Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00272:Dnaaf6'

10430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnaaf6

Ensembl Gene

ENSMUSG00000042433

Gene Name

dynein axonemal assembly factor 6

Synonyms

Pih1h3b, E230019M04Rik, Dnaaf6b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL00272

Quality Score

Status

Chromosome

Chromosomal Location

138963628-139007546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139006711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 197 (I197V)

Ref Sequence

ENSEMBL: ENSMUSP00000048754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044806]

AlphaFold

Q8C6P5

Predicted Effect

probably benign
Transcript: ENSMUST00000044806
AA Change: I197V

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048754
Gene: ENSMUSG00000042433
AA Change: I197V

Domain	Start	End	E-Value	Type
Pfam:PIH1	10	209	3.2e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,700,279 (GRCm39)	V41A	probably damaging	Het
Ankrd12	C	T	17: 66,293,169 (GRCm39)	V755I	probably benign	Het
Arrdc3	T	C	13: 81,038,691 (GRCm39)	S218P	probably damaging	Het
Bzw1	T	C	1: 58,442,101 (GRCm39)	V292A	possibly damaging	Het
Cers2	T	C	3: 95,229,211 (GRCm39)	Y228H	probably damaging	Het
Egf	C	T	3: 129,505,098 (GRCm39)	M625I	probably benign	Het
Fbxw8	A	T	5: 118,206,162 (GRCm39)	H595Q	probably benign	Het
Fshr	T	A	17: 89,292,699 (GRCm39)	I660F	probably benign	Het
Gapdh	C	T	6: 125,139,470 (GRCm39)	V267M	probably damaging	Het
Ginm1	T	C	10: 7,668,460 (GRCm39)		probably benign	Het
Gja1	A	G	10: 56,264,418 (GRCm39)	D259G	probably benign	Het
Gm21814	T	A	6: 149,483,502 (GRCm39)		noncoding transcript	Het
Gm26870	T	C	9: 3,002,340 (GRCm39)		probably benign	Het
Habp2	G	A	19: 56,306,264 (GRCm39)	C482Y	probably damaging	Het
Knl1	A	C	2: 118,894,564 (GRCm39)	N79T	probably damaging	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lats2	T	C	14: 57,929,026 (GRCm39)	T950A	probably benign	Het
Map2k2	T	A	10: 80,956,907 (GRCm39)	M95K	probably damaging	Het
Med12l	T	A	3: 58,949,757 (GRCm39)	I160N	probably damaging	Het
Or9m1b	A	G	2: 87,836,988 (GRCm39)	S45P	probably damaging	Het
Or9m2	A	T	2: 87,820,782 (GRCm39)	D109V	probably damaging	Het
Pes1	T	C	11: 3,926,803 (GRCm39)	S362P	probably damaging	Het
Ppp6r2	G	T	15: 89,170,016 (GRCm39)	A844S	probably benign	Het
Rnf130	A	G	11: 49,984,623 (GRCm39)	I308V	probably damaging	Het
Scn11a	T	C	9: 119,645,669 (GRCm39)	N95S	probably damaging	Het
Shoc1	A	G	4: 59,086,961 (GRCm39)	F284L	probably benign	Het
Skint2	A	G	4: 112,481,409 (GRCm39)	T91A	probably damaging	Het
Smg1	A	G	7: 117,797,494 (GRCm39)		probably benign	Het
Snapc1	A	G	12: 74,015,148 (GRCm39)		probably null	Het
Stard10	A	T	7: 100,971,173 (GRCm39)	Y47F	probably damaging	Het
Tenm3	C	T	8: 48,870,095 (GRCm39)	V233I	probably damaging	Het
Tex14	G	A	11: 87,426,469 (GRCm39)	S1165N	probably damaging	Het
Unc5a	A	G	13: 55,143,633 (GRCm39)	I106V	probably benign	Het
Vps54	T	A	11: 21,227,909 (GRCm39)	Y275N	possibly damaging	Het
Wdr87-ps	G	T	7: 29,237,047 (GRCm39)		noncoding transcript	Het

Other mutations in Dnaaf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3413:Dnaaf6	UTSW	X	139,006,770 (GRCm39)	missense	possibly damaging	0.72

Posted On

2012-12-06