Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Dnaaf5'

576816

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139150223-139186510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 139166113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 506 (C506W)

Ref Sequence

ENSEMBL: ENSMUSP00000026975 (fasta)

Gene Model

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

AlphaFold

B9EJR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026975
AA Change: C506W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: C506W

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: C211W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: C211W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	Het

Other mutations in Dnaaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Dnaaf5	APN	5	139177946	missense	probably benign	0.19
IGL00730:Dnaaf5	APN	5	139151668	critical splice donor site	probably null
IGL01468:Dnaaf5	APN	5	139151480	splice site	probably null
IGL02106:Dnaaf5	APN	5	139151513	missense	probably damaging	1.00
IGL02273:Dnaaf5	APN	5	139177916	nonsense	probably null
IGL02514:Dnaaf5	APN	5	139174117	splice site	probably benign
IGL02572:Dnaaf5	APN	5	139184629	missense	probably benign	0.00
IGL02699:Dnaaf5	APN	5	139153350	splice site	probably benign
PIT4142001:Dnaaf5	UTSW	5	139185518	missense	possibly damaging	0.91
PIT4283001:Dnaaf5	UTSW	5	139166162	missense	probably benign	0.26
R0458:Dnaaf5	UTSW	5	139161878	missense	possibly damaging	0.47
R2060:Dnaaf5	UTSW	5	139178003	missense	probably damaging	1.00
R2162:Dnaaf5	UTSW	5	139181565	missense	possibly damaging	0.46
R3833:Dnaaf5	UTSW	5	139181565	missense	possibly damaging	0.46
R3944:Dnaaf5	UTSW	5	139152924	start gained	probably benign
R4438:Dnaaf5	UTSW	5	139163392	missense	probably damaging	1.00
R4534:Dnaaf5	UTSW	5	139151527	nonsense	probably null
R4576:Dnaaf5	UTSW	5	139185639	missense	probably damaging	0.98
R4581:Dnaaf5	UTSW	5	139184685	missense	probably damaging	1.00
R4715:Dnaaf5	UTSW	5	139178000	missense	probably damaging	0.99
R4791:Dnaaf5	UTSW	5	139184650	missense	possibly damaging	0.56
R4868:Dnaaf5	UTSW	5	139170186	missense	probably benign	0.01
R5011:Dnaaf5	UTSW	5	139163257	missense	probably damaging	1.00
R5074:Dnaaf5	UTSW	5	139174207	missense	probably damaging	1.00
R5137:Dnaaf5	UTSW	5	139181460	missense	probably damaging	1.00
R5215:Dnaaf5	UTSW	5	139161877	missense	probably benign	0.00
R5309:Dnaaf5	UTSW	5	139152862	missense	probably damaging	0.99
R5312:Dnaaf5	UTSW	5	139152862	missense	probably damaging	0.99
R6632:Dnaaf5	UTSW	5	139170333	missense	probably benign	0.04
R6863:Dnaaf5	UTSW	5	139151596	missense	probably damaging	0.96
R7292:Dnaaf5	UTSW	5	139150317	missense	unknown
R7571:Dnaaf5	UTSW	5	139170208	missense	possibly damaging	0.73
R7679:Dnaaf5	UTSW	5	139150637	missense	unknown
R7706:Dnaaf5	UTSW	5	139152841	missense	probably damaging	1.00
R7867:Dnaaf5	UTSW	5	139161810	missense	probably damaging	1.00
R8191:Dnaaf5	UTSW	5	139181495	missense	probably benign	0.06
R8354:Dnaaf5	UTSW	5	139161859	frame shift	probably null
R8355:Dnaaf5	UTSW	5	139161859	frame shift	probably null
R8990:Dnaaf5	UTSW	5	139170196	missense	probably damaging	1.00
R9178:Dnaaf5	UTSW	5	139152897	missense	probably damaging	1.00
R9447:Dnaaf5	UTSW	5	139177988	missense	probably damaging	0.96
R9646:Dnaaf5	UTSW	5	139166077	missense	probably benign	0.00
R9649:Dnaaf5	UTSW	5	139174154	missense	probably benign	0.00
X0020:Dnaaf5	UTSW	5	139163320	missense	probably damaging	0.99
Z1177:Dnaaf5	UTSW	5	139177975	missense	probably damaging	1.00
Z1177:Dnaaf5	UTSW	5	139185542	missense	probably benign	0.04
Z1177:Dnaaf5	UTSW	5	139185585	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAAGCTTCCCTGTTGGC -3'
(R):5'- CAGGTGTGAAATTCAACCATGC -3'

Sequencing Primer
(F):5'- CTGTGTTCAGGTCAAGGCC -3'
(R):5'- GGTGTGAAATTCAACCATGCTAAAG -3'

Posted On

2019-10-07