Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Fam91a1'

608203

Institutional Source

Beutler Lab

Gene Symbol

Fam91a1

Ensembl Gene

ENSMUSG00000037119

Gene Name

family with sequence similarity 91, member A1

Synonyms

D15Ertd621e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58415468-58457740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58448360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 634 (M634V)

Ref Sequence

ENSEMBL: ENSMUSP00000036524 (fasta)

Gene Model

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

AlphaFold

Q3UVG3

Predicted Effect

probably benign
Transcript: ENSMUST00000037270
AA Change: M634V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000036524
Gene: ENSMUSG00000037119
AA Change: M634V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,243,439	D290N	probably damaging	Het
Adam18	T	C	8: 24,611,100	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,843	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,665,386	K305I	probably damaging	Het
Atrn	T	A	2: 130,970,227		probably null	Het
Bambi	A	T	18: 3,511,406	T76S	probably benign	Het
Cacna1a	T	A	8: 84,583,654	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Clcn2	A	G	16: 20,708,460	M629T	probably damaging	Het
Clcn4	T	C	7: 7,287,781	N673S	probably benign	Het
Col20a1	T	C	2: 180,986,578	F15S	probably benign	Het
Col2a1	G	A	15: 98,000,577	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,684	D556A	probably damaging	Het
Edar	C	T	10: 58,610,526	M192I	possibly damaging	Het
Fbxo10	C	T	4: 45,051,699	V471I	not run	Het
Fer1l5	T	C	1: 36,421,886	F2032L	probably benign	Het
Gm5150	A	C	3: 16,006,321	M1R	probably null	Het
Grin1	T	C	2: 25,298,190	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,704,929		probably benign	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,966,275	Y74H	probably damaging	Het
Kpna1	T	C	16: 36,023,195	V313A	probably benign	Het
Lrp4	C	T	2: 91,490,716	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,353,462	C3S	probably damaging	Het
Lyst	C	A	13: 13,635,865	H707N	probably benign	Het
Map3k20	A	G	2: 72,371,754	K148R	probably damaging	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Miip	C	T	4: 147,862,918	G236S	probably benign	Het
Mocs1	T	A	17: 49,439,533	I177N	probably damaging	Het
Muc5b	A	G	7: 141,846,113	D441G	unknown	Het
Ncoa1	T	C	12: 4,278,186	N884S	probably benign	Het
Olfr33	A	G	7: 102,714,182	V77A	probably benign	Het
Olfr533	A	G	7: 140,466,783	N194S	probably damaging	Het
Padi6	A	T	4: 140,727,762	F621L	probably damaging	Het
Pde8b	C	A	13: 95,086,839	M197I	possibly damaging	Het
Pear1	T	A	3: 87,752,215	I771L	probably benign	Het
Poli	A	G	18: 70,522,820	L281P	probably damaging	Het
Prdm12	T	C	2: 31,640,219	W41R	probably damaging	Het
Prkdc	T	G	16: 15,715,006	S1500A	probably benign	Het
Prune2	T	A	19: 17,119,434	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,234,544	Q196*	probably null	Het
Rnpc3	A	T	3: 113,622,447	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724	M1V	probably null	Het
Ryr2	T	A	13: 11,595,724	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,125,365	H314R	probably damaging	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Slc37a3	A	T	6: 39,347,310	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,706,492	H9Q	probably benign	Het
Tnrc6a	T	A	7: 123,179,834	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,909	N126S	probably damaging	Het
Ubr4	T	C	4: 139,393,062	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,069,737	V424A	possibly damaging	Het
Utrn	T	C	10: 12,698,129	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,556,234	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,220,614	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 20,101,914	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,221,353	H118L	probably benign	Het
Zcchc11	T	G	4: 108,517,518	C933G	probably damaging	Het
Zfp775	A	G	6: 48,620,470	K426R	probably benign	Het

Other mutations in Fam91a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Fam91a1	APN	15	58430735	missense	probably damaging	0.99
IGL00590:Fam91a1	APN	15	58415716	missense	possibly damaging	0.66
IGL01301:Fam91a1	APN	15	58442871	missense	probably damaging	0.99
IGL01372:Fam91a1	APN	15	58430062	missense	probably damaging	1.00
IGL01979:Fam91a1	APN	15	58432584	missense	probably damaging	1.00
IGL02085:Fam91a1	APN	15	58441656	missense	possibly damaging	0.95
IGL02553:Fam91a1	APN	15	58432982	critical splice donor site	probably null
IGL02605:Fam91a1	APN	15	58431196	splice site	probably benign
IGL02882:Fam91a1	APN	15	58453061	splice site	probably benign
IGL02894:Fam91a1	APN	15	58443231	missense	probably benign	0.09
ANU18:Fam91a1	UTSW	15	58442871	missense	probably damaging	0.99
H8562:Fam91a1	UTSW	15	58427121	splice site	probably null
R0395:Fam91a1	UTSW	15	58454792	missense	probably benign
R1165:Fam91a1	UTSW	15	58430669	missense	possibly damaging	0.90
R1699:Fam91a1	UTSW	15	58432948	missense	probably benign	0.04
R1749:Fam91a1	UTSW	15	58426594	missense	probably benign	0.02
R1997:Fam91a1	UTSW	15	58424195	critical splice acceptor site	probably null
R2042:Fam91a1	UTSW	15	58426594	missense	probably benign	0.02
R2188:Fam91a1	UTSW	15	58430663	missense	probably damaging	0.98
R2518:Fam91a1	UTSW	15	58450600	missense	possibly damaging	0.92
R3124:Fam91a1	UTSW	15	58421889	missense	probably benign	0.34
R3916:Fam91a1	UTSW	15	58430734	missense	probably damaging	1.00
R4810:Fam91a1	UTSW	15	58434740	missense	probably damaging	1.00
R4959:Fam91a1	UTSW	15	58431210	missense	probably benign	0.16
R4973:Fam91a1	UTSW	15	58431210	missense	probably benign	0.16
R5288:Fam91a1	UTSW	15	58448394	missense	probably benign
R5385:Fam91a1	UTSW	15	58448394	missense	probably benign
R5386:Fam91a1	UTSW	15	58448394	missense	probably benign
R5941:Fam91a1	UTSW	15	58431317	missense	probably benign	0.01
R6415:Fam91a1	UTSW	15	58442917	missense	probably damaging	1.00
R6869:Fam91a1	UTSW	15	58431268	missense	probably benign	0.00
R7175:Fam91a1	UTSW	15	58430678	missense	probably benign	0.06
X0024:Fam91a1	UTSW	15	58430189	missense	probably damaging	0.98
Z1177:Fam91a1	UTSW	15	58432548	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CCCATAGAAAAGGAGCTGTCC -3'
(R):5'- GCAGATGCCATGGTGCAATG -3'

Sequencing Primer
(F):5'- CTCTGACATGTCTTCACTGGAATTG -3'
(R):5'- CAATGCTGAGTGAACACAGTTCTGC -3'

Posted On

2019-12-20