Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02573:Dnaaf10'

299115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnaaf10

Ensembl Gene

ENSMUSG00000078970

Gene Name

dynein axonemal assembly factor 10

Synonyms

Wdr92

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

IGL02573

Quality Score

Status

Chromosome

Chromosomal Location

17161893-17185200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17162136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 58 (L58P)

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

possibly damaging
Transcript: ENSMUST00000046955
AA Change: L58P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
AA Change: L58P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151431

Coding Region Coverage

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
Angptl3	T	A	4: 98,926,171 (GRCm39)	W434R	probably damaging	Het
Atp7b	T	C	8: 22,512,486 (GRCm39)	Q344R	probably benign	Het
B4galt5	C	T	2: 167,146,982 (GRCm39)	R284Q	probably benign	Het
Ccdc80	T	G	16: 44,915,952 (GRCm39)	V236G	probably damaging	Het
Chd8	T	C	14: 52,457,191 (GRCm39)	I926V	possibly damaging	Het
Dgkz	A	C	2: 91,764,542 (GRCm39)	S1030R	probably damaging	Het
Disp3	T	A	4: 148,355,906 (GRCm39)	D318V	probably damaging	Het
Ehd1	T	C	19: 6,344,330 (GRCm39)	S197P	probably damaging	Het
Emp1	A	G	6: 135,356,945 (GRCm39)	K42R	probably benign	Het
Garin4	G	A	1: 190,896,067 (GRCm39)	T192I	probably damaging	Het
Gm4922	T	A	10: 18,659,423 (GRCm39)	D433V	probably benign	Het
Gsdma	T	C	11: 98,561,577 (GRCm39)		probably benign	Het
Hspbp1	G	T	7: 4,680,852 (GRCm39)	A208E	probably damaging	Het
Il5ra	A	T	6: 106,693,712 (GRCm39)	V342E	possibly damaging	Het
Kif13b	T	C	14: 65,040,880 (GRCm39)	F1660S	probably damaging	Het
Lvrn	A	G	18: 47,010,016 (GRCm39)	E388G	probably damaging	Het
Mettl17	G	A	14: 52,125,504 (GRCm39)		probably null	Het
Mgat5b	T	C	11: 116,868,540 (GRCm39)	Y488H	probably benign	Het
Mtr	A	T	13: 12,214,013 (GRCm39)	D886E	possibly damaging	Het
Naip6	A	T	13: 100,435,979 (GRCm39)	L848*	probably null	Het
Nav3	A	G	10: 109,702,835 (GRCm39)	S233P	probably benign	Het
Nme9	A	T	9: 99,352,908 (GRCm39)	D286V	probably benign	Het
Nod1	C	A	6: 54,920,930 (GRCm39)	A463S	probably benign	Het
Nthl1	A	G	17: 24,852,949 (GRCm39)	K51R	probably benign	Het
Or1n2	A	G	2: 36,797,566 (GRCm39)	I203V	probably damaging	Het
Or6k14	T	A	1: 173,927,696 (GRCm39)	V224D	possibly damaging	Het
Pcnx2	G	A	8: 126,582,012 (GRCm39)	A908V	probably benign	Het
Pdcd6	A	G	13: 74,452,098 (GRCm39)	Y181H	probably damaging	Het
Pde10a	A	C	17: 9,180,722 (GRCm39)	I719L	probably benign	Het
Pikfyve	T	A	1: 65,270,014 (GRCm39)		probably null	Het
Plekha5	G	T	6: 140,527,742 (GRCm39)	A396S	probably damaging	Het
Ppfia2	A	G	10: 106,664,789 (GRCm39)	T342A	probably damaging	Het
Rbck1	A	G	2: 152,164,087 (GRCm39)	I339T	possibly damaging	Het
Rbms2	A	T	10: 127,979,309 (GRCm39)	I140N	probably damaging	Het
Scn1b	A	T	7: 30,822,546 (GRCm39)	L78Q	possibly damaging	Het
Slc12a6	T	C	2: 112,188,986 (GRCm39)		probably null	Het
Slc25a30	A	T	14: 76,007,108 (GRCm39)		probably benign	Het
Slc30a7	C	T	3: 115,783,796 (GRCm39)		probably benign	Het
Slc5a10	C	A	11: 61,563,898 (GRCm39)	R546L	possibly damaging	Het
Stxbp4	T	C	11: 90,431,095 (GRCm39)	D405G	probably damaging	Het
Tm4sf19	A	C	16: 32,226,678 (GRCm39)	T156P	possibly damaging	Het
Tmem37	A	T	1: 119,995,719 (GRCm39)	D119E	probably damaging	Het
Tor1aip1	T	A	1: 155,889,117 (GRCm39)	N113I	probably damaging	Het
Ubac2	T	A	14: 122,144,802 (GRCm39)	Y87N	possibly damaging	Het
Usp29	A	T	7: 6,965,617 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,991,736 (GRCm39)	E428G	probably damaging	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
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
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

Posted On

2015-04-16