Mutagenetix > Incidental Mutation

Incidental Mutation 'R7785:Dnaaf10'

599505

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf10

Ensembl Gene

ENSMUSG00000078970

Gene Name

dynein axonemal assembly factor 10

Synonyms

Wdr92

MMRRC Submission

045841-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R7785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17161893-17185200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17179785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 262 (V262E)

Ref Sequence

ENSEMBL: ENSMUSP00000040938 (fasta)

Gene Model

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

AlphaFold

Q8BGF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046955
AA Change: V262E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: V262E

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

Meta Mutation Damage Score

0.8016

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

91% (40/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,262,617 (GRCm39)	F70L	probably benign	Het
Abca8a	T	C	11: 109,965,032 (GRCm39)		probably null	Het
Adamts5	T	C	16: 85,659,892 (GRCm39)	D800G	probably damaging	Het
Afm	T	C	5: 90,698,032 (GRCm39)	V478A	possibly damaging	Het
Akap7	T	A	10: 25,096,559 (GRCm39)	K233M	probably damaging	Het
Apbb1	T	C	7: 105,216,630 (GRCm39)	N61S	probably benign	Het
Atp8b1	A	T	18: 64,689,921 (GRCm39)	S604T	probably damaging	Het
Bcl2l14	G	T	6: 134,409,223 (GRCm39)	V266F	possibly damaging	Het
Btnl2	T	A	17: 34,580,137 (GRCm39)	H223Q	probably benign	Het
Cap2	A	G	13: 46,789,224 (GRCm39)	E255G	probably benign	Het
Chd6	A	T	2: 160,812,095 (GRCm39)	F1366Y	possibly damaging	Het
Cryl1	A	T	14: 57,512,938 (GRCm39)	S310T	probably benign	Het
Cyp2c69	A	G	19: 39,839,610 (GRCm39)	C338R	probably damaging	Het
Dclre1c	C	T	2: 3,425,273 (GRCm39)	Q7*	probably null	Het
Dhcr7	A	G	7: 143,399,209 (GRCm39)	E193G	probably damaging	Het
Dnmt1	T	C	9: 20,833,345 (GRCm39)	K652E	probably damaging	Het
Emilin3	A	T	2: 160,752,694 (GRCm39)	C85*	probably null	Het
Erp44	G	A	4: 48,243,531 (GRCm39)	P26S	probably benign	Het
Fxr1	A	G	3: 34,100,403 (GRCm39)	I121V		Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gpc5	A	G	14: 115,654,632 (GRCm39)	N484S	probably benign	Het
Grm8	A	G	6: 27,618,636 (GRCm39)	V402A	probably damaging	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Iqgap1	A	G	7: 80,387,917 (GRCm39)	L910P	probably damaging	Het
Klra2	A	T	6: 131,222,253 (GRCm39)	F13I	possibly damaging	Het
Lmtk2	T	C	5: 144,111,571 (GRCm39)	S764P	probably benign	Het
Ndufs1	T	C	1: 63,186,558 (GRCm39)	D637G	probably damaging	Het
Nnmt	G	A	9: 48,503,309 (GRCm39)	S239F	probably benign	Het
Pdcd11	A	G	19: 47,093,125 (GRCm39)	I468V	probably benign	Het
Pkhd1l1	T	C	15: 44,406,965 (GRCm39)	W2401R	probably damaging	Het
Plec	C	A	15: 76,090,029 (GRCm39)	V104F	unknown	Het
Polq	A	G	16: 36,848,239 (GRCm39)	Y282C	probably damaging	Het
Ppp1r37	A	T	7: 19,265,996 (GRCm39)	V590E	probably damaging	Het
Prr27	T	C	5: 87,991,131 (GRCm39)	S248P	probably benign	Het
Ros1	T	C	10: 52,038,944 (GRCm39)	E351G	probably damaging	Het
Scn11a	T	C	9: 119,645,622 (GRCm39)	I111V	probably benign	Het
Slc35a1	A	G	4: 34,675,148 (GRCm39)	L130S	probably damaging	Het
Slc39a12	T	C	2: 14,425,029 (GRCm39)	L420P	probably damaging	Het
Sp140	T	A	1: 85,547,819 (GRCm39)	I182K	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Trpv3	C	A	11: 73,168,558 (GRCm39)	H42N	probably benign	Het
Zan	A	G	5: 137,427,405 (GRCm39)	S2411P	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
R7693:Dnaaf10	UTSW	11	17,162,064 (GRCm39)	missense	probably benign	0.25
Z1176:Dnaaf10	UTSW	11	17,178,184 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTGAGTCAGGAAGGTGCC -3'
(R):5'- TGAGCATCCTGGCATTGAAGTAATC -3'

Sequencing Primer
(F):5'- TGCTAACCCAGACTGTACTCC -3'
(R):5'- TTCCAGAGGTGAAGACTCC -3'

Posted On

2019-11-26