Mutagenetix > Incidental Mutation

Incidental Mutation 'R1165:Fam91a1'

100969

Institutional Source

Beutler Lab

Gene Symbol

Fam91a1

Ensembl Gene

ENSMUSG00000037119

Gene Name

family with sequence similarity 91, member A1

Synonyms

D15Ertd621e

MMRRC Submission

039238-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58287317-58329589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58302518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 286 (V286A)

Ref Sequence

ENSEMBL: ENSMUSP00000036524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037270]

AlphaFold

Q3UVG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037270
AA Change: V286A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036524
Gene: ENSMUSG00000037119
AA Change: V286A

Domain	Start	End	E-Value	Type
Pfam:FAM91_N	8	312	2.8e-149	PFAM
Pfam:FAM91_C	374	821	3.8e-182	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227796

Meta Mutation Damage Score

0.1428

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,482,406 (GRCm39)	C1209G	probably benign	Het
Abcg2	C	A	6: 58,655,285 (GRCm39)	L407I	probably benign	Het
Adtrp	A	G	13: 41,967,779 (GRCm39)	V56A	probably damaging	Het
Angptl6	T	G	9: 20,789,604 (GRCm39)	N96T	probably benign	Het
Ank3	C	A	10: 69,734,132 (GRCm39)	N780K	possibly damaging	Het
AU040320	A	T	4: 126,717,433 (GRCm39)		probably benign	Het
Best2	C	T	8: 85,737,789 (GRCm39)	R202H	probably benign	Het
Bod1l	A	T	5: 41,978,396 (GRCm39)	S973T	probably benign	Het
Brca2	T	A	5: 150,466,212 (GRCm39)	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563 (GRCm39)	P539L	probably benign	Het
Ccr1	A	T	9: 123,763,531 (GRCm39)	V333E	possibly damaging	Het
Celf5	A	T	10: 81,307,172 (GRCm39)	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275 (GRCm39)		probably benign	Het
Coro1b	C	A	19: 4,199,901 (GRCm39)	H81N	probably damaging	Het
Cwc22	A	T	2: 77,734,242 (GRCm39)	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,678,242 (GRCm39)	G45W	probably damaging	Het
Dysf	T	A	6: 84,044,051 (GRCm39)	N297K	probably damaging	Het
Edem1	T	A	6: 108,828,214 (GRCm39)	L513Q	probably damaging	Het
Erich1	G	A	8: 14,140,530 (GRCm39)		probably benign	Het
Fdxr	C	A	11: 115,162,608 (GRCm39)		probably benign	Het
Gas7	T	C	11: 67,561,512 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,705,397 (GRCm39)	D151G	probably damaging	Het
Gm14410	A	C	2: 176,885,282 (GRCm39)	Y327*	probably null	Het
Grep1	A	C	17: 23,929,489 (GRCm39)		probably benign	Het
H6pd	A	G	4: 150,080,413 (GRCm39)	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,810,947 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,840 (GRCm39)	T519A	possibly damaging	Het
Hpd	A	G	5: 123,314,153 (GRCm39)		probably null	Het
Insyn2b	A	G	11: 34,352,740 (GRCm39)	T261A	probably benign	Het
Or6c76	A	G	10: 129,612,302 (GRCm39)	D188G	probably damaging	Het
Or7c19	T	A	8: 85,957,400 (GRCm39)	I92N	probably damaging	Het
Pcdha11	A	G	18: 37,140,757 (GRCm39)		probably benign	Het
Pdgfrb	T	C	18: 61,197,074 (GRCm39)	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,115,420 (GRCm39)	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,694,017 (GRCm39)	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Rtel1	A	G	2: 180,976,732 (GRCm39)	K243E	probably benign	Het
Slc19a2	G	A	1: 164,091,014 (GRCm39)	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,887,059 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,790 (GRCm39)	F266L	probably damaging	Het
Snx25	T	G	8: 46,488,752 (GRCm39)	I868L	probably damaging	Het
Spag16	A	G	1: 70,036,036 (GRCm39)	I355V	probably benign	Het
Tmem198	A	T	1: 75,456,576 (GRCm39)		probably benign	Het
Traf3ip3	A	C	1: 192,866,786 (GRCm39)	S349A	probably damaging	Het
Trim17	A	G	11: 58,862,041 (GRCm39)	N358D	possibly damaging	Het
Trmu	A	G	15: 85,776,875 (GRCm39)	T196A	probably damaging	Het
Tsen2	A	G	6: 115,538,396 (GRCm39)	Y291C	probably damaging	Het
Vps13d	A	G	4: 144,853,041 (GRCm39)	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,946 (GRCm39)	H317R	probably benign	Het
Zfp120	A	T	2: 149,961,849 (GRCm39)	V33E	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Fam91a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Fam91a1	APN	15	58,302,584 (GRCm39)	missense	probably damaging	0.99
IGL00590:Fam91a1	APN	15	58,287,565 (GRCm39)	missense	possibly damaging	0.66
IGL01301:Fam91a1	APN	15	58,314,720 (GRCm39)	missense	probably damaging	0.99
IGL01372:Fam91a1	APN	15	58,301,911 (GRCm39)	missense	probably damaging	1.00
IGL01979:Fam91a1	APN	15	58,304,433 (GRCm39)	missense	probably damaging	1.00
IGL02085:Fam91a1	APN	15	58,313,505 (GRCm39)	missense	possibly damaging	0.95
IGL02553:Fam91a1	APN	15	58,304,831 (GRCm39)	critical splice donor site	probably null
IGL02605:Fam91a1	APN	15	58,303,045 (GRCm39)	splice site	probably benign
IGL02882:Fam91a1	APN	15	58,324,910 (GRCm39)	splice site	probably benign
IGL02894:Fam91a1	APN	15	58,315,080 (GRCm39)	missense	probably benign	0.09
ANU18:Fam91a1	UTSW	15	58,314,720 (GRCm39)	missense	probably damaging	0.99
H8562:Fam91a1	UTSW	15	58,298,970 (GRCm39)	splice site	probably null
R0395:Fam91a1	UTSW	15	58,326,641 (GRCm39)	missense	probably benign
R1699:Fam91a1	UTSW	15	58,304,797 (GRCm39)	missense	probably benign	0.04
R1749:Fam91a1	UTSW	15	58,298,443 (GRCm39)	missense	probably benign	0.02
R1997:Fam91a1	UTSW	15	58,296,044 (GRCm39)	critical splice acceptor site	probably null
R2042:Fam91a1	UTSW	15	58,298,443 (GRCm39)	missense	probably benign	0.02
R2188:Fam91a1	UTSW	15	58,302,512 (GRCm39)	missense	probably damaging	0.98
R2518:Fam91a1	UTSW	15	58,322,449 (GRCm39)	missense	possibly damaging	0.92
R3124:Fam91a1	UTSW	15	58,293,738 (GRCm39)	missense	probably benign	0.34
R3916:Fam91a1	UTSW	15	58,302,583 (GRCm39)	missense	probably damaging	1.00
R4810:Fam91a1	UTSW	15	58,306,589 (GRCm39)	missense	probably damaging	1.00
R4959:Fam91a1	UTSW	15	58,303,059 (GRCm39)	missense	probably benign	0.16
R4973:Fam91a1	UTSW	15	58,303,059 (GRCm39)	missense	probably benign	0.16
R5288:Fam91a1	UTSW	15	58,320,243 (GRCm39)	missense	probably benign
R5385:Fam91a1	UTSW	15	58,320,243 (GRCm39)	missense	probably benign
R5386:Fam91a1	UTSW	15	58,320,243 (GRCm39)	missense	probably benign
R5941:Fam91a1	UTSW	15	58,303,166 (GRCm39)	missense	probably benign	0.01
R6415:Fam91a1	UTSW	15	58,314,766 (GRCm39)	missense	probably damaging	1.00
R6869:Fam91a1	UTSW	15	58,303,117 (GRCm39)	missense	probably benign	0.00
R7175:Fam91a1	UTSW	15	58,302,527 (GRCm39)	missense	probably benign	0.06
R7872:Fam91a1	UTSW	15	58,320,209 (GRCm39)	missense	probably benign	0.01
X0024:Fam91a1	UTSW	15	58,302,038 (GRCm39)	missense	probably damaging	0.98
Z1177:Fam91a1	UTSW	15	58,304,397 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

Posted On

2014-01-15