Mutagenetix > Incidental Mutation

Incidental Mutation 'R4576:Dnaaf5'

342463

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

041799-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R4576 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

139135978-139172265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139171394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 557 (A557D)

Ref Sequence

ENSEMBL: ENSMUSP00000142924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026975] [ENSMUST00000196441]

AlphaFold

B9EJR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026975
AA Change: A852D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: A852D

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	43	59	N/A	INTRINSIC
low complexity region	73	83	N/A	INTRINSIC
low complexity region	91	153	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
Pfam:Vac14_Fab1_bd	673	770	2.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196441
AA Change: A557D

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: A557D

Domain	Start	End	E-Value	Type
Pfam:Vac14_Fab1_bd	378	475	4.1e-5	PFAM
Pfam:HEAT	447	477	1.7e-3	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,623,979 (GRCm39)	D160V	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Atp4a	A	G	7: 30,417,147 (GRCm39)	D510G	probably benign	Het
Atp8a1	T	C	5: 67,973,158 (GRCm39)		probably benign	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
C7	A	G	15: 5,032,238 (GRCm39)	S658P	probably damaging	Het
Cdh9	T	C	15: 16,832,325 (GRCm39)	V404A	possibly damaging	Het
Cfap54	C	T	10: 92,879,090 (GRCm39)		probably null	Het
Chml	G	T	1: 175,514,506 (GRCm39)	Q129K	probably damaging	Het
Chst2	T	C	9: 95,287,224 (GRCm39)	H374R	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Cirbp	A	G	10: 80,006,075 (GRCm39)	K84E	probably damaging	Het
Cln6	G	T	9: 62,746,231 (GRCm39)	Q23H	probably benign	Het
Cntn5	A	G	9: 9,673,297 (GRCm39)	M801T	probably benign	Het
Dapk1	A	T	13: 60,869,636 (GRCm39)	M293L	probably benign	Het
Ddx11	A	G	17: 66,457,721 (GRCm39)	K869E	probably damaging	Het
Ddx17	A	T	15: 79,425,347 (GRCm39)	M108K	probably benign	Het
Ecpas	A	T	4: 58,834,708 (GRCm39)		probably benign	Het
Edil3	T	C	13: 89,467,850 (GRCm39)	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Enah	G	A	1: 181,747,128 (GRCm39)	S298L	possibly damaging	Het
Exoc7	T	C	11: 116,180,009 (GRCm39)	*685W	probably null	Het
Fgfbp1	C	T	5: 44,136,806 (GRCm39)	R162H	probably benign	Het
Foxj3	A	G	4: 119,478,860 (GRCm39)	S439G	unknown	Het
Fzd9	A	G	5: 135,279,166 (GRCm39)	S240P	probably damaging	Het
Gin1	A	G	1: 97,720,064 (GRCm39)	D442G	probably damaging	Het
Gm10804	C	T	2: 93,299,014 (GRCm39)		noncoding transcript	Het
Grhl3	G	T	4: 135,288,562 (GRCm39)	T41K	probably damaging	Het
H6pd	A	T	4: 150,078,933 (GRCm39)	D243E	probably damaging	Het
Heatr6	T	A	11: 83,655,826 (GRCm39)	S306T	probably benign	Het
Hkdc1	T	C	10: 62,221,622 (GRCm39)	D812G	possibly damaging	Het
Hmcn1	G	T	1: 150,610,238 (GRCm39)	T1477K	probably benign	Het
Ift80	A	G	3: 68,857,863 (GRCm39)	S261P	possibly damaging	Het
Kcnu1	A	T	8: 26,380,048 (GRCm39)	D424V	probably benign	Het
Kctd1	A	G	18: 15,140,757 (GRCm39)	S658P	probably damaging	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Llph-ps2	A	G	X: 13,084,690 (GRCm39)		noncoding transcript	Het
Lpxn	T	C	19: 12,810,654 (GRCm39)	I366T	probably benign	Het
Lrp1	ACAGGCGC	AC	10: 127,376,057 (GRCm39)		probably benign	Het
Maml3	G	A	3: 51,763,927 (GRCm39)	Q346*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mlc1	G	A	15: 88,858,740 (GRCm39)	T136M	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Pcdhga9	A	C	18: 37,870,881 (GRCm39)	N237H	probably damaging	Het
Pde4dip	C	A	3: 97,661,565 (GRCm39)	E657D	probably damaging	Het
Pknox2	A	G	9: 36,834,844 (GRCm39)		probably benign	Het
Plcb3	C	T	19: 6,936,415 (GRCm39)		probably benign	Het
Plxnd1	G	A	6: 115,945,005 (GRCm39)	A99V	probably benign	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Ppp1r14c	G	T	10: 3,316,912 (GRCm39)	K82N	probably damaging	Het
Pum3	G	A	19: 27,393,308 (GRCm39)	T389M	probably benign	Het
Pxdn	A	T	12: 30,061,922 (GRCm39)	T1165S	probably benign	Het
Rasgrf2	T	C	13: 92,044,529 (GRCm39)	D925G	possibly damaging	Het
Samhd1	A	T	2: 156,943,670 (GRCm39)	C615S	probably damaging	Het
Sec16a	A	T	2: 26,321,131 (GRCm39)	Y1320*	probably null	Het
Slco6b1	T	A	1: 96,916,422 (GRCm39)		noncoding transcript	Het
Slitrk6	C	A	14: 110,987,602 (GRCm39)	V702F	probably benign	Het
Spata31d1b	C	A	13: 59,864,675 (GRCm39)	H608N	probably damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Tacc3	T	A	5: 33,818,841 (GRCm39)		probably benign	Het
Tango2	A	T	16: 18,119,392 (GRCm39)	D146E	probably damaging	Het
Thbs1	G	A	2: 117,949,897 (GRCm39)	R624Q	probably damaging	Het
Tmem161a	T	C	8: 70,634,713 (GRCm39)		probably null	Het
Tmem175	A	G	5: 108,792,468 (GRCm39)	D248G	possibly damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Trip11	G	A	12: 101,852,499 (GRCm39)	Q521*	probably null	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Ttc16	A	T	2: 32,660,071 (GRCm39)	F246I	probably benign	Het
Unc79	T	C	12: 102,968,062 (GRCm39)		probably benign	Het
Vmn1r74	A	G	7: 11,580,696 (GRCm39)		probably null	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly damaging	Het
Zc3h4	G	A	7: 16,168,579 (GRCm39)	R896H	unknown	Het
Zfp941	T	A	7: 140,391,503 (GRCm39)	K619*	probably null	Het
Zfp970	A	T	2: 177,167,473 (GRCm39)	H349L	probably damaging	Het

Other mutations in Dnaaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Dnaaf5	APN	5	139,163,701 (GRCm39)	missense	probably benign	0.19
IGL00730:Dnaaf5	APN	5	139,137,423 (GRCm39)	critical splice donor site	probably null
IGL01468:Dnaaf5	APN	5	139,137,235 (GRCm39)	splice site	probably null
IGL02106:Dnaaf5	APN	5	139,137,268 (GRCm39)	missense	probably damaging	1.00
IGL02273:Dnaaf5	APN	5	139,163,671 (GRCm39)	nonsense	probably null
IGL02514:Dnaaf5	APN	5	139,159,872 (GRCm39)	splice site	probably benign
IGL02572:Dnaaf5	APN	5	139,170,384 (GRCm39)	missense	probably benign	0.00
IGL02699:Dnaaf5	APN	5	139,139,105 (GRCm39)	splice site	probably benign
PIT4142001:Dnaaf5	UTSW	5	139,171,273 (GRCm39)	missense	possibly damaging	0.91
PIT4283001:Dnaaf5	UTSW	5	139,151,917 (GRCm39)	missense	probably benign	0.26
R0458:Dnaaf5	UTSW	5	139,147,633 (GRCm39)	missense	possibly damaging	0.47
R2060:Dnaaf5	UTSW	5	139,163,758 (GRCm39)	missense	probably damaging	1.00
R2162:Dnaaf5	UTSW	5	139,167,320 (GRCm39)	missense	possibly damaging	0.46
R3833:Dnaaf5	UTSW	5	139,167,320 (GRCm39)	missense	possibly damaging	0.46
R3944:Dnaaf5	UTSW	5	139,138,679 (GRCm39)	start gained	probably benign
R4438:Dnaaf5	UTSW	5	139,149,147 (GRCm39)	missense	probably damaging	1.00
R4534:Dnaaf5	UTSW	5	139,137,282 (GRCm39)	nonsense	probably null
R4581:Dnaaf5	UTSW	5	139,170,440 (GRCm39)	missense	probably damaging	1.00
R4715:Dnaaf5	UTSW	5	139,163,755 (GRCm39)	missense	probably damaging	0.99
R4791:Dnaaf5	UTSW	5	139,170,405 (GRCm39)	missense	possibly damaging	0.56
R4868:Dnaaf5	UTSW	5	139,155,941 (GRCm39)	missense	probably benign	0.01
R5011:Dnaaf5	UTSW	5	139,149,012 (GRCm39)	missense	probably damaging	1.00
R5074:Dnaaf5	UTSW	5	139,159,962 (GRCm39)	missense	probably damaging	1.00
R5137:Dnaaf5	UTSW	5	139,167,215 (GRCm39)	missense	probably damaging	1.00
R5215:Dnaaf5	UTSW	5	139,147,632 (GRCm39)	missense	probably benign	0.00
R5309:Dnaaf5	UTSW	5	139,138,617 (GRCm39)	missense	probably damaging	0.99
R5312:Dnaaf5	UTSW	5	139,138,617 (GRCm39)	missense	probably damaging	0.99
R6632:Dnaaf5	UTSW	5	139,156,088 (GRCm39)	missense	probably benign	0.04
R6863:Dnaaf5	UTSW	5	139,137,351 (GRCm39)	missense	probably damaging	0.96
R7292:Dnaaf5	UTSW	5	139,136,072 (GRCm39)	missense	unknown
R7439:Dnaaf5	UTSW	5	139,151,868 (GRCm39)	missense	probably damaging	1.00
R7571:Dnaaf5	UTSW	5	139,155,963 (GRCm39)	missense	possibly damaging	0.73
R7679:Dnaaf5	UTSW	5	139,136,392 (GRCm39)	missense	unknown
R7706:Dnaaf5	UTSW	5	139,138,596 (GRCm39)	missense	probably damaging	1.00
R7867:Dnaaf5	UTSW	5	139,147,565 (GRCm39)	missense	probably damaging	1.00
R8191:Dnaaf5	UTSW	5	139,167,250 (GRCm39)	missense	probably benign	0.06
R8354:Dnaaf5	UTSW	5	139,147,614 (GRCm39)	frame shift	probably null
R8355:Dnaaf5	UTSW	5	139,147,614 (GRCm39)	frame shift	probably null
R8990:Dnaaf5	UTSW	5	139,155,951 (GRCm39)	missense	probably damaging	1.00
R9178:Dnaaf5	UTSW	5	139,138,652 (GRCm39)	missense	probably damaging	1.00
R9447:Dnaaf5	UTSW	5	139,163,743 (GRCm39)	missense	probably damaging	0.96
R9646:Dnaaf5	UTSW	5	139,151,832 (GRCm39)	missense	probably benign	0.00
R9649:Dnaaf5	UTSW	5	139,159,909 (GRCm39)	missense	probably benign	0.00
X0020:Dnaaf5	UTSW	5	139,149,075 (GRCm39)	missense	probably damaging	0.99
Z1177:Dnaaf5	UTSW	5	139,171,340 (GRCm39)	missense	probably damaging	1.00
Z1177:Dnaaf5	UTSW	5	139,171,297 (GRCm39)	missense	probably benign	0.04
Z1177:Dnaaf5	UTSW	5	139,163,730 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTGTAAAGCTGGGAGGTG -3'
(R):5'- CAAGCAGCTAATTGGGAAGC -3'

Sequencing Primer
(F):5'- TAAAGCTGGGAGGTGGGCAC -3'
(R):5'- GCTAATTGGGAAGCTGGCG -3'

Posted On

2015-09-24