Mutagenetix > Incidental Mutation

Incidental Mutation 'P0014:Dnah5'

7584

Institutional Source

Beutler Lab

Gene Symbol

Dnah5

Ensembl Gene

ENSMUSG00000022262

Gene Name

dynein, axonemal, heavy chain 5

Synonyms

Dnahc5, b2b3491Clo, b2b1154Clo, b2b1134Clo, b2b1565Clo, b2b1537Clo, Mdnah5

MMRRC Submission

038267-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

P0014 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28203898-28472198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28403619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 3448 (L3448Q)

Ref Sequence

ENSEMBL: ENSMUSP00000069751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067048]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067048
AA Change: L3448Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069751
Gene: ENSMUSG00000022262
AA Change: L3448Q

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	247	802	2.3e-163	PFAM
low complexity region	1077	1088	N/A	INTRINSIC
low complexity region	1113	1128	N/A	INTRINSIC
Pfam:DHC_N2	1399	1807	2.3e-134	PFAM
AAA	1972	2108	2e-3	SMART
AAA	2251	2424	4.3e-3	SMART
AAA	2579	2777	2.2e-3	SMART
low complexity region	2874	2889	N/A	INTRINSIC
Pfam:AAA_8	2914	3186	3.2e-70	PFAM
Pfam:MT	3198	3546	1e-44	PFAM
Pfam:AAA_9	3567	3792	1.4e-86	PFAM
low complexity region	3889	3899	N/A	INTRINSIC
Pfam:Dynein_heavy	3930	4618	4.4e-246	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 85.4%
3x: 80.7%
10x: 66.7%
20x: 50.4%

Validation Efficiency

95% (100/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted(2) Gene trapped(1) Transgenic(1) Chemically induced(7)

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,000,083 (GRCm39)	Y1017C	probably benign	Het
Acly	T	C	11: 100,375,430 (GRCm39)	I787V	probably benign	Het
Aldob	T	C	4: 49,538,153 (GRCm39)	Q325R	probably benign	Het
Armh4	C	T	14: 49,989,116 (GRCm39)	E618K	probably damaging	Het
Capns2	A	G	8: 93,628,842 (GRCm39)	T244A	probably damaging	Het
Clec16a	C	T	16: 10,378,020 (GRCm39)		probably benign	Het
Creb3	A	G	4: 43,563,265 (GRCm39)	T121A	possibly damaging	Het
Ddah1	A	G	3: 145,558,913 (GRCm39)	D160G	probably benign	Het
Dhx57	A	T	17: 80,582,620 (GRCm39)	H328Q	probably benign	Het
Dmxl2	A	C	9: 54,309,048 (GRCm39)	L1901R	probably damaging	Het
Gcdh	A	G	8: 85,615,154 (GRCm39)		probably null	Het
Lrrc8c	T	C	5: 105,755,110 (GRCm39)	V295A	probably benign	Het
Nek1	A	T	8: 61,524,781 (GRCm39)		probably benign	Het
Pkp2	C	T	16: 16,058,386 (GRCm39)	P356L	probably benign	Het
Sipa1l3	T	C	7: 29,082,640 (GRCm39)	T752A	probably damaging	Het
Slc38a2	C	A	15: 96,588,042 (GRCm39)	W494L	probably damaging	Het
Ttn	T	C	2: 76,628,814 (GRCm39)	D12734G	probably damaging	Het
Uggt2	A	G	14: 119,281,950 (GRCm39)	S742P	probably damaging	Het
Vwa3b	C	T	1: 37,212,995 (GRCm39)		probably benign	Het

Other mutations in Dnah5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Dnah5	APN	15	28,272,488 (GRCm39)	missense	probably benign
IGL00331:Dnah5	APN	15	28,421,766 (GRCm39)	missense	probably damaging	1.00
IGL00519:Dnah5	APN	15	28,444,364 (GRCm39)	missense	probably benign	0.10
IGL00537:Dnah5	APN	15	28,458,848 (GRCm39)	critical splice donor site	probably null
IGL01102:Dnah5	APN	15	28,410,149 (GRCm39)	critical splice donor site	probably null
IGL01126:Dnah5	APN	15	28,302,545 (GRCm39)	missense	possibly damaging	0.85
IGL01154:Dnah5	APN	15	28,458,802 (GRCm39)	missense	possibly damaging	0.75
IGL01349:Dnah5	APN	15	28,295,059 (GRCm39)	splice site	probably benign
IGL01353:Dnah5	APN	15	28,233,418 (GRCm39)	missense	probably benign	0.00
IGL01372:Dnah5	APN	15	28,230,636 (GRCm39)	missense	probably benign	0.00
IGL01390:Dnah5	APN	15	28,411,686 (GRCm39)	missense	probably benign	0.00
IGL01446:Dnah5	APN	15	28,326,815 (GRCm39)	missense	probably damaging	1.00
IGL01472:Dnah5	APN	15	28,331,872 (GRCm39)	missense	probably damaging	1.00
IGL01485:Dnah5	APN	15	28,331,872 (GRCm39)	missense	probably damaging	1.00
IGL01568:Dnah5	APN	15	28,229,798 (GRCm39)	missense	probably benign	0.01
IGL01592:Dnah5	APN	15	28,236,783 (GRCm39)	missense	probably benign	0.01
IGL01594:Dnah5	APN	15	28,311,480 (GRCm39)	missense	possibly damaging	0.87
IGL01677:Dnah5	APN	15	28,367,928 (GRCm39)	missense	probably damaging	1.00
IGL01845:Dnah5	APN	15	28,449,315 (GRCm39)	missense	probably benign	0.06
IGL01904:Dnah5	APN	15	28,307,510 (GRCm39)	missense	probably benign	0.09
IGL01913:Dnah5	APN	15	28,313,899 (GRCm39)	missense	possibly damaging	0.50
IGL01950:Dnah5	APN	15	28,290,435 (GRCm39)	missense	probably null	1.00
IGL01963:Dnah5	APN	15	28,370,682 (GRCm39)	missense	probably benign	0.12
IGL02008:Dnah5	APN	15	28,343,698 (GRCm39)	missense	probably damaging	0.98
IGL02088:Dnah5	APN	15	28,459,264 (GRCm39)	critical splice acceptor site	probably null
IGL02090:Dnah5	APN	15	28,240,187 (GRCm39)	splice site	probably benign
IGL02114:Dnah5	APN	15	28,397,270 (GRCm39)	missense	probably damaging	0.97
IGL02135:Dnah5	APN	15	28,248,031 (GRCm39)	missense	possibly damaging	0.50
IGL02232:Dnah5	APN	15	28,299,386 (GRCm39)	missense	probably damaging	1.00
IGL02386:Dnah5	APN	15	28,340,527 (GRCm39)	missense	probably damaging	1.00
IGL02475:Dnah5	APN	15	28,219,296 (GRCm39)	missense	probably benign	0.09
IGL02626:Dnah5	APN	15	28,307,422 (GRCm39)	missense	possibly damaging	0.94
IGL02650:Dnah5	APN	15	28,289,193 (GRCm39)	splice site	probably benign
IGL02651:Dnah5	APN	15	28,350,768 (GRCm39)	missense	probably benign	0.05
IGL02652:Dnah5	APN	15	28,366,333 (GRCm39)	missense	probably damaging	0.99
IGL02670:Dnah5	APN	15	28,409,442 (GRCm39)	missense	probably damaging	1.00
IGL02697:Dnah5	APN	15	28,445,289 (GRCm39)	missense	probably benign	0.00
IGL02721:Dnah5	APN	15	28,234,389 (GRCm39)	critical splice acceptor site	probably null
IGL02858:Dnah5	APN	15	28,453,358 (GRCm39)	missense	possibly damaging	0.65
IGL02859:Dnah5	APN	15	28,383,771 (GRCm39)	missense	probably benign	0.01
IGL02945:Dnah5	APN	15	28,270,572 (GRCm39)	missense	probably benign	0.00
IGL02949:Dnah5	APN	15	28,272,331 (GRCm39)	missense	probably benign	0.32
IGL02971:Dnah5	APN	15	28,384,607 (GRCm39)	missense	probably damaging	1.00
IGL03017:Dnah5	APN	15	28,340,471 (GRCm39)	missense	possibly damaging	0.93
IGL03177:Dnah5	APN	15	28,295,545 (GRCm39)	missense	probably damaging	0.97
IGL03212:Dnah5	APN	15	28,290,309 (GRCm39)	missense	probably benign	0.08
IGL03224:Dnah5	APN	15	28,459,300 (GRCm39)	missense	probably damaging	1.00
IGL03231:Dnah5	APN	15	28,311,294 (GRCm39)	missense	probably damaging	1.00
IGL03273:Dnah5	APN	15	28,458,795 (GRCm39)	missense	probably damaging	0.98
IGL03294:Dnah5	APN	15	28,233,441 (GRCm39)	critical splice donor site	probably null
IGL03331:Dnah5	APN	15	28,420,086 (GRCm39)	missense	probably damaging	1.00
IGL03337:Dnah5	APN	15	28,290,287 (GRCm39)	missense	probably benign	0.10
IGL03367:Dnah5	APN	15	28,234,473 (GRCm39)	missense	possibly damaging	0.95
Firtel	UTSW	15	28,448,513 (GRCm39)	missense	possibly damaging	0.95
lowbar	UTSW	15	28,311,279 (GRCm39)	splice site	probably null
notherone	UTSW	15	28,340,552 (GRCm39)	missense	probably benign	0.13
scheffler	UTSW	15	28,438,237 (GRCm39)	splice site	probably benign
IGL02837:Dnah5	UTSW	15	28,269,546 (GRCm39)	missense	probably benign
P0008:Dnah5	UTSW	15	28,302,533 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Dnah5	UTSW	15	28,383,723 (GRCm39)	missense	probably damaging	0.98
R0030:Dnah5	UTSW	15	28,451,663 (GRCm39)	missense	probably benign	0.34
R0087:Dnah5	UTSW	15	28,350,759 (GRCm39)	missense	probably damaging	1.00
R0099:Dnah5	UTSW	15	28,240,080 (GRCm39)	missense	probably damaging	1.00
R0102:Dnah5	UTSW	15	28,245,897 (GRCm39)	splice site	probably benign
R0102:Dnah5	UTSW	15	28,245,897 (GRCm39)	splice site	probably benign
R0104:Dnah5	UTSW	15	28,453,499 (GRCm39)	missense	possibly damaging	0.88
R0112:Dnah5	UTSW	15	28,263,825 (GRCm39)	missense	probably benign	0.00
R0122:Dnah5	UTSW	15	28,378,509 (GRCm39)	missense	probably damaging	1.00
R0126:Dnah5	UTSW	15	28,246,465 (GRCm39)	missense	probably benign	0.00
R0127:Dnah5	UTSW	15	28,295,071 (GRCm39)	missense	probably damaging	1.00
R0233:Dnah5	UTSW	15	28,333,216 (GRCm39)	missense	probably damaging	1.00
R0310:Dnah5	UTSW	15	28,299,256 (GRCm39)	missense	probably benign	0.19
R0386:Dnah5	UTSW	15	28,383,727 (GRCm39)	missense	probably damaging	1.00
R0421:Dnah5	UTSW	15	28,229,687 (GRCm39)	missense	possibly damaging	0.79
R0481:Dnah5	UTSW	15	28,383,745 (GRCm39)	missense	probably benign	0.31
R0514:Dnah5	UTSW	15	28,366,467 (GRCm39)	missense	probably damaging	1.00
R0609:Dnah5	UTSW	15	28,327,925 (GRCm39)	missense	probably benign
R0720:Dnah5	UTSW	15	28,314,007 (GRCm39)	missense	probably null	0.98
R0731:Dnah5	UTSW	15	28,311,289 (GRCm39)	missense	possibly damaging	0.78
R0747:Dnah5	UTSW	15	28,444,333 (GRCm39)	missense	possibly damaging	0.64
R0747:Dnah5	UTSW	15	28,444,332 (GRCm39)	missense	probably damaging	0.99
R0766:Dnah5	UTSW	15	28,448,633 (GRCm39)	missense	probably null	0.89
R0849:Dnah5	UTSW	15	28,263,745 (GRCm39)	missense	probably damaging	0.96
R1034:Dnah5	UTSW	15	28,302,617 (GRCm39)	missense	probably damaging	1.00
R1084:Dnah5	UTSW	15	28,343,598 (GRCm39)	missense	probably benign	0.01
R1148:Dnah5	UTSW	15	28,421,836 (GRCm39)	missense	probably damaging	1.00
R1148:Dnah5	UTSW	15	28,421,836 (GRCm39)	missense	probably damaging	1.00
R1200:Dnah5	UTSW	15	28,246,403 (GRCm39)	missense	possibly damaging	0.88
R1208:Dnah5	UTSW	15	28,327,877 (GRCm39)	missense	probably damaging	1.00
R1208:Dnah5	UTSW	15	28,327,877 (GRCm39)	missense	probably damaging	1.00
R1269:Dnah5	UTSW	15	28,238,657 (GRCm39)	missense	probably damaging	1.00
R1373:Dnah5	UTSW	15	28,314,064 (GRCm39)	splice site	probably benign
R1401:Dnah5	UTSW	15	28,402,059 (GRCm39)	missense	probably damaging	1.00
R1413:Dnah5	UTSW	15	28,370,555 (GRCm39)	missense	probably benign
R1430:Dnah5	UTSW	15	28,346,003 (GRCm39)	missense	probably benign	0.37
R1457:Dnah5	UTSW	15	28,403,688 (GRCm39)	critical splice donor site	probably null
R1468:Dnah5	UTSW	15	28,230,609 (GRCm39)	nonsense	probably null
R1468:Dnah5	UTSW	15	28,230,609 (GRCm39)	nonsense	probably null
R1560:Dnah5	UTSW	15	28,420,149 (GRCm39)	missense	probably damaging	1.00
R1568:Dnah5	UTSW	15	28,409,323 (GRCm39)	missense	probably damaging	0.98
R1574:Dnah5	UTSW	15	28,252,569 (GRCm39)	missense	probably benign	0.00
R1574:Dnah5	UTSW	15	28,252,569 (GRCm39)	missense	probably benign	0.00
R1603:Dnah5	UTSW	15	28,449,326 (GRCm39)	missense	probably benign	0.09
R1603:Dnah5	UTSW	15	28,295,131 (GRCm39)	splice site	probably benign
R1673:Dnah5	UTSW	15	28,290,294 (GRCm39)	missense	probably benign
R1755:Dnah5	UTSW	15	28,326,782 (GRCm39)	missense	probably damaging	0.99
R1785:Dnah5	UTSW	15	28,313,932 (GRCm39)	missense	probably damaging	1.00
R1786:Dnah5	UTSW	15	28,313,932 (GRCm39)	missense	probably damaging	1.00
R1789:Dnah5	UTSW	15	28,270,572 (GRCm39)	missense	probably benign	0.00
R1817:Dnah5	UTSW	15	28,246,546 (GRCm39)	nonsense	probably null
R1819:Dnah5	UTSW	15	28,246,546 (GRCm39)	nonsense	probably null
R1834:Dnah5	UTSW	15	28,409,270 (GRCm39)	missense	probably benign	0.00
R1855:Dnah5	UTSW	15	28,411,815 (GRCm39)	missense	possibly damaging	0.88
R1870:Dnah5	UTSW	15	28,331,859 (GRCm39)	nonsense	probably null
R1871:Dnah5	UTSW	15	28,331,859 (GRCm39)	nonsense	probably null
R1987:Dnah5	UTSW	15	28,343,737 (GRCm39)	missense	probably damaging	0.99
R1988:Dnah5	UTSW	15	28,343,737 (GRCm39)	missense	probably damaging	0.99
R1989:Dnah5	UTSW	15	28,343,737 (GRCm39)	missense	probably damaging	0.99
R2062:Dnah5	UTSW	15	28,366,416 (GRCm39)	missense	probably damaging	1.00
R2069:Dnah5	UTSW	15	28,312,534 (GRCm39)	splice site	probably null
R2121:Dnah5	UTSW	15	28,297,151 (GRCm39)	splice site	probably benign
R2128:Dnah5	UTSW	15	28,408,467 (GRCm39)	missense	probably benign	0.00
R2129:Dnah5	UTSW	15	28,408,467 (GRCm39)	missense	probably benign	0.00
R2151:Dnah5	UTSW	15	28,444,237 (GRCm39)	missense	probably damaging	1.00
R2159:Dnah5	UTSW	15	28,252,691 (GRCm39)	missense	probably benign	0.00
R2207:Dnah5	UTSW	15	28,343,817 (GRCm39)	missense	probably benign	0.11
R2231:Dnah5	UTSW	15	28,408,563 (GRCm39)	critical splice donor site	probably null
R2232:Dnah5	UTSW	15	28,408,563 (GRCm39)	critical splice donor site	probably null
R2282:Dnah5	UTSW	15	28,327,448 (GRCm39)	missense	probably damaging	0.99
R2305:Dnah5	UTSW	15	28,387,913 (GRCm39)	missense	probably benign	0.25
R2339:Dnah5	UTSW	15	28,314,028 (GRCm39)	missense	probably benign	0.00
R2437:Dnah5	UTSW	15	28,307,537 (GRCm39)	critical splice donor site	probably null
R2696:Dnah5	UTSW	15	28,278,722 (GRCm39)	missense	probably benign	0.00
R3156:Dnah5	UTSW	15	28,438,237 (GRCm39)	splice site	probably benign
R3431:Dnah5	UTSW	15	28,295,413 (GRCm39)	missense	probably benign	0.20
R3700:Dnah5	UTSW	15	28,387,937 (GRCm39)	missense	possibly damaging	0.72
R3724:Dnah5	UTSW	15	28,270,566 (GRCm39)	missense	probably benign	0.08
R3732:Dnah5	UTSW	15	28,409,268 (GRCm39)	missense	possibly damaging	0.64
R3872:Dnah5	UTSW	15	28,411,656 (GRCm39)	missense	possibly damaging	0.50
R4063:Dnah5	UTSW	15	28,421,144 (GRCm39)	missense	probably damaging	0.98
R4072:Dnah5	UTSW	15	28,340,444 (GRCm39)	nonsense	probably null
R4075:Dnah5	UTSW	15	28,293,937 (GRCm39)	missense	probably benign
R4245:Dnah5	UTSW	15	28,219,335 (GRCm39)	missense	probably benign
R4254:Dnah5	UTSW	15	28,438,248 (GRCm39)	missense	probably benign	0.07
R4255:Dnah5	UTSW	15	28,438,248 (GRCm39)	missense	probably benign	0.07
R4392:Dnah5	UTSW	15	28,289,375 (GRCm39)	missense	probably benign	0.19
R4552:Dnah5	UTSW	15	28,397,300 (GRCm39)	missense	probably benign	0.19
R4574:Dnah5	UTSW	15	28,367,909 (GRCm39)	missense	probably benign	0.05
R4577:Dnah5	UTSW	15	28,289,396 (GRCm39)	missense	probably benign	0.06
R4587:Dnah5	UTSW	15	28,304,745 (GRCm39)	missense	probably damaging	1.00
R4631:Dnah5	UTSW	15	28,420,140 (GRCm39)	missense	probably damaging	1.00
R4631:Dnah5	UTSW	15	28,402,099 (GRCm39)	missense	probably damaging	1.00
R4676:Dnah5	UTSW	15	28,295,406 (GRCm39)	missense	possibly damaging	0.65
R4707:Dnah5	UTSW	15	28,372,521 (GRCm39)	missense	probably damaging	0.97
R4754:Dnah5	UTSW	15	28,421,101 (GRCm39)	splice site	probably null
R4767:Dnah5	UTSW	15	28,270,620 (GRCm39)	missense	probably benign	0.02
R4857:Dnah5	UTSW	15	28,345,953 (GRCm39)	missense	probably benign	0.00
R4883:Dnah5	UTSW	15	28,343,784 (GRCm39)	missense	probably benign	0.00
R4889:Dnah5	UTSW	15	28,235,938 (GRCm39)	missense	probably benign	0.01
R4946:Dnah5	UTSW	15	28,388,050 (GRCm39)	missense	probably damaging	1.00
R4946:Dnah5	UTSW	15	28,326,703 (GRCm39)	missense	probably damaging	0.96
R4947:Dnah5	UTSW	15	28,272,518 (GRCm39)	missense	probably benign
R5033:Dnah5	UTSW	15	28,421,824 (GRCm39)	missense	probably damaging	0.96
R5164:Dnah5	UTSW	15	28,408,438 (GRCm39)	missense	probably benign	0.00
R5175:Dnah5	UTSW	15	28,448,550 (GRCm39)	missense	probably damaging	1.00
R5182:Dnah5	UTSW	15	28,311,424 (GRCm39)	missense	probably damaging	0.99
R5187:Dnah5	UTSW	15	28,272,318 (GRCm39)	missense	probably benign	0.41
R5272:Dnah5	UTSW	15	28,350,811 (GRCm39)	missense	probably benign
R5308:Dnah5	UTSW	15	28,229,797 (GRCm39)	missense	possibly damaging	0.80
R5310:Dnah5	UTSW	15	28,311,474 (GRCm39)	missense	probably damaging	1.00
R5322:Dnah5	UTSW	15	28,384,390 (GRCm39)	missense	probably benign	0.41
R5398:Dnah5	UTSW	15	28,293,872 (GRCm39)	missense	probably benign
R5596:Dnah5	UTSW	15	28,343,754 (GRCm39)	missense	probably damaging	1.00
R5603:Dnah5	UTSW	15	28,420,078 (GRCm39)	missense	probably damaging	1.00
R5619:Dnah5	UTSW	15	28,302,581 (GRCm39)	missense	probably damaging	1.00
R5656:Dnah5	UTSW	15	28,421,210 (GRCm39)	missense	probably benign	0.03
R5741:Dnah5	UTSW	15	28,246,513 (GRCm39)	missense	probably benign	0.11
R5754:Dnah5	UTSW	15	28,402,014 (GRCm39)	missense	probably benign	0.01
R5763:Dnah5	UTSW	15	28,311,298 (GRCm39)	missense	probably damaging	1.00
R5824:Dnah5	UTSW	15	28,313,967 (GRCm39)	missense	probably benign	0.00
R5836:Dnah5	UTSW	15	28,383,738 (GRCm39)	missense	probably damaging	1.00
R5838:Dnah5	UTSW	15	28,290,341 (GRCm39)	missense	probably benign	0.00
R5864:Dnah5	UTSW	15	28,297,159 (GRCm39)	missense	possibly damaging	0.83
R5895:Dnah5	UTSW	15	28,234,599 (GRCm39)	splice site	probably null
R5896:Dnah5	UTSW	15	28,272,206 (GRCm39)	missense	probably benign
R5899:Dnah5	UTSW	15	28,448,513 (GRCm39)	missense	possibly damaging	0.95
R5905:Dnah5	UTSW	15	28,387,979 (GRCm39)	missense	probably damaging	1.00
R5924:Dnah5	UTSW	15	28,307,473 (GRCm39)	missense	probably benign	0.41
R5927:Dnah5	UTSW	15	28,335,864 (GRCm39)	missense	probably benign	0.00
R5929:Dnah5	UTSW	15	28,311,354 (GRCm39)	missense	probably damaging	1.00
R5929:Dnah5	UTSW	15	28,311,353 (GRCm39)	missense	probably benign	0.01
R5931:Dnah5	UTSW	15	28,453,425 (GRCm39)	missense	probably damaging	0.99
R5964:Dnah5	UTSW	15	28,458,730 (GRCm39)	missense	possibly damaging	0.49
R5975:Dnah5	UTSW	15	28,234,428 (GRCm39)	missense	probably damaging	1.00
R5993:Dnah5	UTSW	15	28,299,372 (GRCm39)	missense	probably benign	0.09
R6016:Dnah5	UTSW	15	28,328,030 (GRCm39)	missense	probably damaging	1.00
R6028:Dnah5	UTSW	15	28,387,979 (GRCm39)	missense	probably damaging	1.00
R6065:Dnah5	UTSW	15	28,230,614 (GRCm39)	missense	possibly damaging	0.47
R6117:Dnah5	UTSW	15	28,270,566 (GRCm39)	missense	probably damaging	0.99
R6143:Dnah5	UTSW	15	28,233,377 (GRCm39)	missense	probably benign	0.05
R6146:Dnah5	UTSW	15	28,459,331 (GRCm39)	missense	probably benign
R6154:Dnah5	UTSW	15	28,204,177 (GRCm39)	missense	probably benign	0.15
R6164:Dnah5	UTSW	15	28,378,489 (GRCm39)	missense	probably benign	0.08
R6266:Dnah5	UTSW	15	28,335,773 (GRCm39)	missense	possibly damaging	0.67
R6321:Dnah5	UTSW	15	28,372,557 (GRCm39)	missense	probably damaging	0.99
R6349:Dnah5	UTSW	15	28,238,657 (GRCm39)	missense	probably damaging	1.00
R6431:Dnah5	UTSW	15	28,349,970 (GRCm39)	missense	possibly damaging	0.52
R6467:Dnah5	UTSW	15	28,438,329 (GRCm39)	missense	probably benign	0.10
R6564:Dnah5	UTSW	15	28,367,891 (GRCm39)	missense	probably benign
R6607:Dnah5	UTSW	15	28,445,346 (GRCm39)	missense	possibly damaging	0.95
R6619:Dnah5	UTSW	15	28,409,266 (GRCm39)	missense	probably benign	0.03
R6633:Dnah5	UTSW	15	28,293,933 (GRCm39)	missense	probably benign	0.27
R6647:Dnah5	UTSW	15	28,403,633 (GRCm39)	missense	probably benign	0.02
R6782:Dnah5	UTSW	15	28,449,302 (GRCm39)	missense	possibly damaging	0.89
R6797:Dnah5	UTSW	15	28,233,384 (GRCm39)	nonsense	probably null
R6797:Dnah5	UTSW	15	28,451,609 (GRCm39)	missense	probably damaging	1.00
R6831:Dnah5	UTSW	15	28,411,661 (GRCm39)	missense	possibly damaging	0.88
R6849:Dnah5	UTSW	15	28,278,770 (GRCm39)	missense	probably benign	0.14
R6871:Dnah5	UTSW	15	28,229,786 (GRCm39)	missense	probably benign	0.32
R6936:Dnah5	UTSW	15	28,409,414 (GRCm39)	missense	probably damaging	1.00
R6943:Dnah5	UTSW	15	28,235,866 (GRCm39)	missense	probably damaging	1.00
R7030:Dnah5	UTSW	15	28,333,208 (GRCm39)	missense	probably benign	0.00
R7030:Dnah5	UTSW	15	28,238,738 (GRCm39)	missense	probably benign
R7032:Dnah5	UTSW	15	28,326,796 (GRCm39)	missense	probably damaging	1.00
R7063:Dnah5	UTSW	15	28,233,394 (GRCm39)	missense	probably benign	0.00
R7094:Dnah5	UTSW	15	28,453,482 (GRCm39)	missense	probably damaging	0.98
R7097:Dnah5	UTSW	15	28,453,410 (GRCm39)	missense	probably benign	0.00
R7126:Dnah5	UTSW	15	28,349,983 (GRCm39)	missense	probably benign	0.03
R7153:Dnah5	UTSW	15	28,365,668 (GRCm39)	splice site	probably null
R7209:Dnah5	UTSW	15	28,459,371 (GRCm39)	missense	possibly damaging	0.71
R7276:Dnah5	UTSW	15	28,367,984 (GRCm39)	missense	probably damaging	1.00
R7320:Dnah5	UTSW	15	28,270,616 (GRCm39)	missense	probably null	0.33
R7350:Dnah5	UTSW	15	28,235,965 (GRCm39)	critical splice donor site	probably null
R7380:Dnah5	UTSW	15	28,370,524 (GRCm39)	missense	probably damaging	1.00
R7438:Dnah5	UTSW	15	28,347,098 (GRCm39)	missense	probably damaging	0.99
R7499:Dnah5	UTSW	15	28,302,596 (GRCm39)	missense	probably damaging	1.00
R7513:Dnah5	UTSW	15	28,370,561 (GRCm39)	missense	probably benign
R7519:Dnah5	UTSW	15	28,390,629 (GRCm39)	missense	probably damaging	0.98
R7524:Dnah5	UTSW	15	28,297,212 (GRCm39)	missense	possibly damaging	0.50
R7556:Dnah5	UTSW	15	28,290,389 (GRCm39)	missense	probably null	0.43
R7570:Dnah5	UTSW	15	28,347,098 (GRCm39)	missense	probably damaging	1.00
R7585:Dnah5	UTSW	15	28,402,014 (GRCm39)	missense	probably benign	0.09
R7642:Dnah5	UTSW	15	28,248,125 (GRCm39)	critical splice donor site	probably null
R7670:Dnah5	UTSW	15	28,246,378 (GRCm39)	splice site	probably null
R7763:Dnah5	UTSW	15	28,314,001 (GRCm39)	missense	probably damaging	1.00
R7821:Dnah5	UTSW	15	28,411,678 (GRCm39)	missense	possibly damaging	0.89
R7826:Dnah5	UTSW	15	28,367,958 (GRCm39)	missense	probably damaging	1.00
R7872:Dnah5	UTSW	15	28,245,830 (GRCm39)	missense	probably damaging	0.99
R7889:Dnah5	UTSW	15	28,448,560 (GRCm39)	nonsense	probably null
R7919:Dnah5	UTSW	15	28,350,742 (GRCm39)	missense	probably damaging	1.00
R7920:Dnah5	UTSW	15	28,453,368 (GRCm39)	missense	probably benign	0.00
R7936:Dnah5	UTSW	15	28,345,983 (GRCm39)	missense	possibly damaging	0.64
R7996:Dnah5	UTSW	15	28,409,323 (GRCm39)	missense	probably damaging	0.98
R8063:Dnah5	UTSW	15	28,230,729 (GRCm39)	missense	probably benign
R8084:Dnah5	UTSW	15	28,388,099 (GRCm39)	missense	probably damaging	1.00
R8105:Dnah5	UTSW	15	28,372,548 (GRCm39)	missense	probably benign
R8114:Dnah5	UTSW	15	28,240,122 (GRCm39)	missense	probably benign	0.01
R8142:Dnah5	UTSW	15	28,384,519 (GRCm39)	missense	probably benign	0.36
R8153:Dnah5	UTSW	15	28,384,576 (GRCm39)	missense	probably damaging	1.00
R8161:Dnah5	UTSW	15	28,350,850 (GRCm39)	missense	possibly damaging	0.79
R8174:Dnah5	UTSW	15	28,311,279 (GRCm39)	splice site	probably null
R8187:Dnah5	UTSW	15	28,384,355 (GRCm39)	missense	probably damaging	1.00
R8194:Dnah5	UTSW	15	28,453,414 (GRCm39)	missense	probably damaging	0.99
R8280:Dnah5	UTSW	15	28,408,538 (GRCm39)	missense	probably benign	0.01
R8291:Dnah5	UTSW	15	28,263,743 (GRCm39)	missense	probably benign	0.03
R8324:Dnah5	UTSW	15	28,347,011 (GRCm39)	missense	probably damaging	1.00
R8347:Dnah5	UTSW	15	28,236,812 (GRCm39)	missense	possibly damaging	0.90
R8356:Dnah5	UTSW	15	28,444,313 (GRCm39)	missense	probably benign	0.03
R8356:Dnah5	UTSW	15	28,444,469 (GRCm39)	missense	probably null	0.02
R8361:Dnah5	UTSW	15	28,331,956 (GRCm39)	missense	probably damaging	0.98
R8375:Dnah5	UTSW	15	28,327,489 (GRCm39)	missense	probably benign	0.00
R8474:Dnah5	UTSW	15	28,247,978 (GRCm39)	missense	probably benign	0.00
R8481:Dnah5	UTSW	15	28,419,941 (GRCm39)	missense	probably benign	0.00
R8494:Dnah5	UTSW	15	28,345,977 (GRCm39)	missense	probably benign	0.32
R8495:Dnah5	UTSW	15	28,409,414 (GRCm39)	missense	probably damaging	0.97
R8519:Dnah5	UTSW	15	28,299,245 (GRCm39)	missense	probably benign	0.07
R8683:Dnah5	UTSW	15	28,289,367 (GRCm39)	missense	probably benign	0.00
R8739:Dnah5	UTSW	15	28,346,006 (GRCm39)	missense	probably benign	0.01
R8752:Dnah5	UTSW	15	28,290,365 (GRCm39)	missense	probably benign	0.00
R8784:Dnah5	UTSW	15	28,388,097 (GRCm39)	missense	probably benign	0.16
R8813:Dnah5	UTSW	15	28,229,719 (GRCm39)	missense	probably damaging	1.00
R8862:Dnah5	UTSW	15	28,459,502 (GRCm39)	splice site	probably benign
R8873:Dnah5	UTSW	15	28,219,334 (GRCm39)	missense	probably benign
R8885:Dnah5	UTSW	15	28,327,886 (GRCm39)	missense	probably damaging	1.00
R8901:Dnah5	UTSW	15	28,365,715 (GRCm39)	missense	possibly damaging	0.76
R9025:Dnah5	UTSW	15	28,409,412 (GRCm39)	missense	probably damaging	1.00
R9037:Dnah5	UTSW	15	28,248,104 (GRCm39)	missense	probably benign	0.05
R9057:Dnah5	UTSW	15	28,391,014 (GRCm39)	missense	probably damaging	1.00
R9059:Dnah5	UTSW	15	28,245,812 (GRCm39)	missense	probably benign
R9065:Dnah5	UTSW	15	28,293,936 (GRCm39)	missense	probably benign	0.09
R9098:Dnah5	UTSW	15	28,420,107 (GRCm39)	missense
R9118:Dnah5	UTSW	15	28,401,994 (GRCm39)	frame shift	probably null
R9149:Dnah5	UTSW	15	28,387,914 (GRCm39)	missense	probably benign	0.00
R9184:Dnah5	UTSW	15	28,340,552 (GRCm39)	missense	probably benign	0.13
R9205:Dnah5	UTSW	15	28,448,480 (GRCm39)	missense	possibly damaging	0.88
R9297:Dnah5	UTSW	15	28,204,054 (GRCm39)	start gained	probably benign
R9302:Dnah5	UTSW	15	28,240,032 (GRCm39)	missense	probably benign	0.03
R9310:Dnah5	UTSW	15	28,448,579 (GRCm39)	missense	probably damaging	1.00
R9318:Dnah5	UTSW	15	28,204,054 (GRCm39)	start gained	probably benign
R9405:Dnah5	UTSW	15	28,272,306 (GRCm39)	missense	probably benign
R9424:Dnah5	UTSW	15	28,272,286 (GRCm39)	missense	probably benign	0.01
R9467:Dnah5	UTSW	15	28,366,293 (GRCm39)	missense	possibly damaging	0.94
R9469:Dnah5	UTSW	15	28,421,146 (GRCm39)	missense	probably benign	0.06
R9548:Dnah5	UTSW	15	28,328,025 (GRCm39)	missense	possibly damaging	0.79
R9564:Dnah5	UTSW	15	28,290,422 (GRCm39)	missense	probably benign	0.04
R9576:Dnah5	UTSW	15	28,272,286 (GRCm39)	missense	probably benign	0.01
R9593:Dnah5	UTSW	15	28,236,774 (GRCm39)	missense	probably benign
R9644:Dnah5	UTSW	15	28,230,650 (GRCm39)	missense	probably damaging	0.98
R9655:Dnah5	UTSW	15	28,242,900 (GRCm39)	missense	probably benign
R9657:Dnah5	UTSW	15	28,410,089 (GRCm39)	missense	probably damaging	1.00
R9704:Dnah5	UTSW	15	28,247,965 (GRCm39)	missense	probably benign	0.00
R9797:Dnah5	UTSW	15	28,233,316 (GRCm39)	missense	probably benign	0.34
RF009:Dnah5	UTSW	15	28,204,165 (GRCm39)	missense	probably benign	0.00
X0011:Dnah5	UTSW	15	28,408,527 (GRCm39)	missense	probably benign	0.16
X0018:Dnah5	UTSW	15	28,269,500 (GRCm39)	missense	probably benign	0.00
X0022:Dnah5	UTSW	15	28,270,557 (GRCm39)	missense	probably benign	0.01
X0023:Dnah5	UTSW	15	28,384,454 (GRCm39)	missense	probably damaging	0.99
X0028:Dnah5	UTSW	15	28,470,623 (GRCm39)	missense	probably damaging	1.00
Z1088:Dnah5	UTSW	15	28,366,503 (GRCm39)	missense	probably null	0.10
Z1088:Dnah5	UTSW	15	28,384,376 (GRCm39)	missense	probably damaging	1.00
Z1177:Dnah5	UTSW	15	28,295,457 (GRCm39)	missense	probably damaging	0.98
Z1177:Dnah5	UTSW	15	28,270,549 (GRCm39)	missense	probably benign	0.00
Z1177:Dnah5	UTSW	15	28,270,500 (GRCm39)	missense	probably benign	0.32
Z1177:Dnah5	UTSW	15	28,387,909 (GRCm39)	missense	possibly damaging	0.72

Protein Function and Prediction

Dnahc5 (alternatively, Dnah5 or Mdnah5) is an axonemal dynein heavy chain that provides force production and ATPase activity during ciliary bending.

Expression/Localization

Northern blot analysis of mouse tissues revealed that the strongest expression of Dnah5 in the lung and kidney, with weaker expression in the brain, heart, and testis (1).

Background

Mutations in DNAH5 can cause ciliary dyskinesia, primary, 3, with or without situs inversus [OMIM: #608644; (1-4)]. Patients with primary ciliary dyskinesia (PCD) often have recurrent respiratory tract infections and reduced sperm motility. Approximately 50% of patients with PCD have defects in left-right symmetry (OMIM: *603335).

Dnahc5^{Tg1Htz/ Tg1Htz}; MGI: 2180081

involves: C57BL/6 * CBA/J

This insertional mutation leads to features of PCD including respiratory distress, sinus inflammation, immotile cilia, situs inversus (5). Most of the mice die during the first 2-3 weeks of life, have hydroencephaly, an enlarged and domed cranium, abnormal gait, and increased susceptibility to otitis media (5).

References

1. Olbrich, H., Haffner, K., Kispert, A., Volkel, A., Volz, A., Sasmaz, G., Reinhardt, R., Hennig, S., Lehrach, H., Konietzko, N., Zariwala, M., Noone, P. G., Knowles, M., Mitchison, H. M., Meeks, M., Chung, E. M., Hildebrandt, F., Sudbrak, R., and Omran, H. (2002) Mutations in DNAH5 Cause Primary Ciliary Dyskinesia and Randomization of Left-Right Asymmetry. Nat Genet. 30, 143-144.

2. Omran, H., Haffner, K., Volkel, A., Kuehr, J., Ketelsen, U. P., Ross, U. H., Konietzko, N., Wienker, T., Brandis, M., and Hildebrandt, F. (2000) Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH5 as a Candidate Gene. Am J Respir Cell Mol Biol. 23, 696-702.

3. Failly, M., Bartoloni, L., Letourneau, A., Munoz, A., Falconnet, E., Rossier, C., de Santi, M. M., Santamaria, F., Sacco, O., DeLozier-Blanchet, C. D., Lazor, R., and Blouin, J. L. (2009) Mutations in DNAH5 Account for Only 15% of a Non-Preselected Cohort of Patients with Primary Ciliary Dyskinesia. J Med Genet. 46, 281-286.

4. Hornef, N., Olbrich, H., Horvath, J., Zariwala, M. A., Fliegauf, M., Loges, N. T., Wildhaber, J., Noone, P. G., Kennedy, M., Antonarakis, S. E., Blouin, J. L., Bartoloni, L., Nusslein, T., Ahrens, P., Griese, M., Kuhl, H., Sudbrak, R., Knowles, M. R., Reinhardt, R., and Omran, H. (2006) DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects. Am J Respir Crit Care Med. 174, 120-126.

5. Ibanez-Tallon, I., Gorokhova, S., and Heintz, N. (2002) Loss of Function of Axonemal Dynein Mdnah5 Causes Primary Ciliary Dyskinesia and Hydrocephalus. Hum Mol Genet. 11, 715-721.

Posted On

2012-10-05

Science Writer

Anne Murray