Mutagenetix > Incidental Mutation

Incidental Mutation 'R7693:Dnaaf10'

593509

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf10

Ensembl Gene

ENSMUSG00000078970

Gene Name

dynein axonemal assembly factor 10

Synonyms

Wdr92

MMRRC Submission

045708-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

R7693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17161893-17185200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17162064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 34 (V34A)

Ref Sequence

ENSEMBL: ENSMUSP00000040938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020317] [ENSMUST00000046955]

AlphaFold

Q8BGF3

Predicted Effect

probably benign
Transcript: ENSMUST00000020317

SMART Domains

Protein: ENSMUSP00000020317
Gene: ENSMUSG00000020116

Domain	Start	End	E-Value	Type
KH	153	226	8.92e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046955
AA Change: V34A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: V34A

Domain	Start	End	E-Value	Type
WD40	55	96	6.88e0	SMART
WD40	100	145	5.15e-2	SMART
Blast:WD40	149	196	8e-27	BLAST
WD40	199	240	2.54e2	SMART
WD40	246	288	2.06e0	SMART
WD40	310	350	7.7e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,827,968 (GRCm39)	S63I	probably damaging	Het
Adcy10	A	G	1: 165,398,340 (GRCm39)	E1479G	probably benign	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Anapc1	A	G	2: 128,483,457 (GRCm39)	S1213P	possibly damaging	Het
Aoc3	C	A	11: 101,223,338 (GRCm39)	H525N	probably benign	Het
Arhgap33	A	T	7: 30,225,537 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,763,222 (GRCm39)	E826G	probably benign	Het
Art2a	A	T	7: 101,204,056 (GRCm39)	*161R	probably null	Het
Azi2	A	T	9: 117,876,661 (GRCm39)	N59I	probably damaging	Het
Cdhr5	T	C	7: 140,851,691 (GRCm39)	T538A	probably benign	Het
Cilk1	A	G	9: 78,065,008 (GRCm39)	D306G	probably benign	Het
Csnk2b	C	A	17: 35,336,972 (GRCm39)	G123C	probably null	Het
Dnaja2	G	T	8: 86,266,939 (GRCm39)	P306Q	probably damaging	Het
Dusp19	A	G	2: 80,447,905 (GRCm39)	T60A	probably benign	Het
Epm2aip1	G	A	9: 111,101,443 (GRCm39)	G139S	probably benign	Het
Fer1l4	A	G	2: 155,862,351 (GRCm39)	F1774S	possibly damaging	Het
Fxyd3	T	A	7: 30,770,598 (GRCm39)	R66S	probably benign	Het
Gjd2	T	C	2: 113,842,309 (GRCm39)	N56S	probably damaging	Het
Gmcl1	A	G	6: 86,691,239 (GRCm39)	I252T	probably benign	Het
Gnl1	T	C	17: 36,299,112 (GRCm39)	C517R	probably damaging	Het
Grin1	T	A	2: 25,208,679 (GRCm39)	M74L	possibly damaging	Het
Hinfp	A	G	9: 44,209,642 (GRCm39)	M244T	probably damaging	Het
Iqca1l	T	C	5: 24,751,626 (GRCm39)	I541V	probably benign	Het
Kcnma1	T	A	14: 23,417,680 (GRCm39)	I850F	probably damaging	Het
Kif13a	G	T	13: 46,904,089 (GRCm39)	T1748N	probably benign	Het
Lama1	C	T	17: 68,124,026 (GRCm39)	A2817V		Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Neb	C	T	2: 52,189,581 (GRCm39)	A770T	probably damaging	Het
Noc2l	T	A	4: 156,324,764 (GRCm39)	H280Q	probably damaging	Het
Ntrk1	T	C	3: 87,695,733 (GRCm39)	D205G	probably benign	Het
Or5m5	A	T	2: 85,814,979 (GRCm39)	Y265F	probably damaging	Het
Or7a37	A	T	10: 78,806,137 (GRCm39)	Y218F	probably damaging	Het
Parp9	A	G	16: 35,777,282 (GRCm39)	S409G	possibly damaging	Het
Pcnx2	G	A	8: 126,613,864 (GRCm39)	T529I	probably benign	Het
Popdc3	A	G	10: 45,191,227 (GRCm39)	S113G	probably benign	Het
Rbm8a	T	C	3: 96,537,624 (GRCm39)	I25T	probably damaging	Het
Rfc4	A	G	16: 22,946,163 (GRCm39)	W40R	probably damaging	Het
Rp1	T	C	1: 4,417,626 (GRCm39)	D1162G	probably damaging	Het
Slc14a2	G	A	18: 78,197,218 (GRCm39)	A846V	possibly damaging	Het
Spx	A	G	6: 142,360,516 (GRCm39)	D56G	probably damaging	Het
Tanc2	T	A	11: 105,814,293 (GRCm39)	N1912K	probably damaging	Het
Tmcc1	T	C	6: 116,001,843 (GRCm39)	I559V		Het
Tnfaip3	A	G	10: 18,880,528 (GRCm39)	V513A	probably benign	Het
Ucp3	T	C	7: 100,131,799 (GRCm39)	F217L	probably benign	Het
Zc3h11a	A	T	1: 133,573,475 (GRCm39)	M55K	probably damaging	Het
Zfp316	G	A	5: 143,249,167 (GRCm39)	T156I	unknown	Het

Other mutations in Dnaaf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01678:Dnaaf10	APN	11	17,182,790 (GRCm39)	missense	probably benign
IGL01801:Dnaaf10	APN	11	17,169,015 (GRCm39)	missense	probably benign	0.00
IGL02573:Dnaaf10	APN	11	17,162,136 (GRCm39)	missense	possibly damaging	0.92
IGL02985:Dnaaf10	APN	11	17,179,845 (GRCm39)	missense	probably damaging	1.00
IGL03148:Dnaaf10	APN	11	17,179,845 (GRCm39)	missense	probably damaging	1.00
IGL03147:Dnaaf10	UTSW	11	17,179,845 (GRCm39)	missense	probably damaging	1.00
R0244:Dnaaf10	UTSW	11	17,179,851 (GRCm39)	missense	probably damaging	1.00
R0276:Dnaaf10	UTSW	11	17,179,821 (GRCm39)	missense	probably benign	0.33
R1013:Dnaaf10	UTSW	11	17,178,183 (GRCm39)	missense	probably damaging	1.00
R1660:Dnaaf10	UTSW	11	17,177,183 (GRCm39)	missense	probably benign	0.00
R2030:Dnaaf10	UTSW	11	17,179,832 (GRCm39)	missense	probably benign
R4663:Dnaaf10	UTSW	11	17,182,853 (GRCm39)	missense	probably benign	0.01
R4676:Dnaaf10	UTSW	11	17,179,794 (GRCm39)	missense	probably benign	0.00
R4822:Dnaaf10	UTSW	11	17,177,165 (GRCm39)	missense	probably damaging	1.00
R5328:Dnaaf10	UTSW	11	17,172,220 (GRCm39)	missense	probably damaging	0.97
R5439:Dnaaf10	UTSW	11	17,162,031 (GRCm39)	missense	possibly damaging	0.46
R5473:Dnaaf10	UTSW	11	17,174,591 (GRCm39)	missense	probably damaging	0.99
R5642:Dnaaf10	UTSW	11	17,177,263 (GRCm39)	missense	possibly damaging	0.89
R5771:Dnaaf10	UTSW	11	17,174,638 (GRCm39)	missense	probably benign	0.00
R6680:Dnaaf10	UTSW	11	17,179,857 (GRCm39)	missense	probably damaging	1.00
R6889:Dnaaf10	UTSW	11	17,172,309 (GRCm39)	missense	probably damaging	1.00
R7367:Dnaaf10	UTSW	11	17,182,712 (GRCm39)	missense	probably damaging	1.00
R7785:Dnaaf10	UTSW	11	17,179,785 (GRCm39)	missense	probably damaging	1.00
Z1176:Dnaaf10	UTSW	11	17,178,184 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGGCTTCCGGGTAGAATGC -3'
(R):5'- CTGCAGTGAGAGCCTAGTTTG -3'

Sequencing Primer
(F):5'- CTTCCGGGTAGAATGCGGCTAG -3'
(R):5'- GAGAGCCTAGTTTGAAGTATTTCTC -3'

Posted On

2019-11-12