Mutagenetix > Incidental Mutation

Incidental Mutation 'R3125:Fem1b'

264245

Institutional Source

Beutler Lab

Gene Symbol

Fem1b

Ensembl Gene

ENSMUSG00000032244

Gene Name

fem 1 homolog b

Synonyms

MMRRC Submission

040598-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62699106-62718930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62703836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 475 (I475V)

Ref Sequence

ENSEMBL: ENSMUSP00000034775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034775]

AlphaFold

Q9Z2G0

Predicted Effect

probably benign
Transcript: ENSMUST00000034775
AA Change: I475V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034775
Gene: ENSMUSG00000032244
AA Change: I475V

Domain	Start	End	E-Value	Type
ANK	45	74	6.81e-3	SMART
ANK	87	116	6.65e-6	SMART
ANK	120	149	8.39e-3	SMART
ANK	153	182	8.91e-7	SMART
ANK	186	215	4.13e-2	SMART
ANK	218	246	6.71e-2	SMART
ANK	483	527	1.72e1	SMART
ANK	531	570	6.05e2	SMART

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous targeted mutants display abnormal glucose tolerance due to defective glucose-stimulated insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	T	6: 116,404,098 (GRCm39)		probably null	Het
Aoc1l1	A	T	6: 48,952,305 (GRCm39)	I77F	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Cep135	T	C	5: 76,769,210 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,716,310 (GRCm39)	H385L	possibly damaging	Het
Dach2	T	C	X: 112,729,664 (GRCm39)	I417T	possibly damaging	Het
Dcaf8l	A	T	X: 88,448,327 (GRCm39)	Y601N	probably benign	Het
Dhx32	T	C	7: 133,327,085 (GRCm39)	Y332C	probably damaging	Het
Dlx1	T	A	2: 71,362,740 (GRCm39)	W216R	probably damaging	Het
Dna2	G	A	10: 62,784,981 (GRCm39)	A33T	possibly damaging	Het
Dyrk1a	G	A	16: 94,469,660 (GRCm39)		probably benign	Het
Fam227b	T	C	2: 125,966,006 (GRCm39)	T140A	probably benign	Het
Fign	T	A	2: 63,809,044 (GRCm39)	Q742L	possibly damaging	Het
Hip1r	A	G	5: 124,138,204 (GRCm39)	D766G	probably benign	Het
Hsd17b12	C	T	2: 93,864,303 (GRCm39)	R268Q	probably benign	Het
Htt	T	C	5: 34,961,875 (GRCm39)	S287P	probably benign	Het
Icam5	A	G	9: 20,947,954 (GRCm39)	I617M	probably benign	Het
Ifi27l2b	T	C	12: 103,417,594 (GRCm39)	T198A	unknown	Het
Ip6k3	T	C	17: 27,376,516 (GRCm39)	Y65C	probably damaging	Het
Kif15	A	C	9: 122,817,026 (GRCm39)	Q542P	probably damaging	Het
Kit	G	T	5: 75,808,487 (GRCm39)	A744S	probably benign	Het
Kit	C	T	5: 75,808,488 (GRCm39)	A744V	probably null	Het
Lonp1	A	G	17: 56,933,488 (GRCm39)	I129T	possibly damaging	Het
Ltbp4	C	T	7: 27,027,203 (GRCm39)	R389Q	possibly damaging	Het
Map3k21	A	T	8: 126,668,593 (GRCm39)	K726N	probably benign	Het
Mcpt8	A	T	14: 56,321,398 (GRCm39)	I22K	probably damaging	Het
Npb	G	A	11: 120,499,728 (GRCm39)	V103I	possibly damaging	Het
Or13a22	T	C	7: 140,072,764 (GRCm39)	M71T	probably benign	Het
Or2y3	G	A	17: 38,392,903 (GRCm39)		probably null	Het
Plin2	G	T	4: 86,575,381 (GRCm39)	Y389*	probably null	Het
Pnpla6	G	T	8: 3,584,670 (GRCm39)	G763C	probably null	Het
Pnpla7	A	G	2: 24,932,150 (GRCm39)	D935G	probably damaging	Het
Prr29	A	G	11: 106,265,711 (GRCm39)	S10G	probably benign	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Serpina12	G	A	12: 104,004,242 (GRCm39)	T130I	probably benign	Het
Slc6a18	A	G	13: 73,825,921 (GRCm39)	F43S	probably damaging	Het
Stx6	C	T	1: 155,034,654 (GRCm39)	P6S	probably damaging	Het
Togaram1	G	T	12: 65,013,118 (GRCm39)	R123L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim9	C	T	12: 70,295,167 (GRCm39)	G648R	probably damaging	Het
Trpm2	T	A	10: 77,747,208 (GRCm39)	N1430I	probably damaging	Het
Trpm6	C	G	19: 18,831,795 (GRCm39)	H1553Q	probably benign	Het
Vav3	G	A	3: 109,535,484 (GRCm39)		probably null	Het
Zfp574	G	T	7: 24,781,026 (GRCm39)	A683S	possibly damaging	Het

Other mutations in Fem1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Fem1b	APN	9	62,704,201 (GRCm39)	missense	probably damaging	1.00
IGL01306:Fem1b	APN	9	62,704,810 (GRCm39)	missense	possibly damaging	0.69
IGL02059:Fem1b	APN	9	62,703,446 (GRCm39)	missense	possibly damaging	0.57
IGL02292:Fem1b	APN	9	62,703,977 (GRCm39)	missense	probably benign	0.00
IGL03390:Fem1b	APN	9	62,704,246 (GRCm39)	missense	probably benign	0.01
physeter	UTSW	9	62,704,916 (GRCm39)	missense	probably damaging	0.99
ANU23:Fem1b	UTSW	9	62,704,810 (GRCm39)	missense	possibly damaging	0.69
R0054:Fem1b	UTSW	9	62,704,082 (GRCm39)	missense	probably damaging	1.00
R0054:Fem1b	UTSW	9	62,704,082 (GRCm39)	missense	probably damaging	1.00
R0733:Fem1b	UTSW	9	62,704,125 (GRCm39)	missense	possibly damaging	0.50
R1661:Fem1b	UTSW	9	62,704,556 (GRCm39)	missense	probably damaging	0.96
R1697:Fem1b	UTSW	9	62,704,456 (GRCm39)	missense	possibly damaging	0.56
R2228:Fem1b	UTSW	9	62,704,020 (GRCm39)	nonsense	probably null
R2326:Fem1b	UTSW	9	62,704,285 (GRCm39)	missense	probably damaging	0.98
R3123:Fem1b	UTSW	9	62,703,836 (GRCm39)	missense	probably benign	0.00
R3124:Fem1b	UTSW	9	62,703,836 (GRCm39)	missense	probably benign	0.00
R4849:Fem1b	UTSW	9	62,704,576 (GRCm39)	missense	probably damaging	1.00
R5749:Fem1b	UTSW	9	62,704,288 (GRCm39)	missense	probably damaging	1.00
R6338:Fem1b	UTSW	9	62,704,293 (GRCm39)	missense	probably benign	0.08
R6727:Fem1b	UTSW	9	62,704,015 (GRCm39)	missense	possibly damaging	0.65
R7036:Fem1b	UTSW	9	62,704,310 (GRCm39)	missense	probably damaging	1.00
R7287:Fem1b	UTSW	9	62,703,404 (GRCm39)	missense	probably benign	0.00
R7538:Fem1b	UTSW	9	62,718,449 (GRCm39)	missense	probably damaging	0.98
R7877:Fem1b	UTSW	9	62,703,844 (GRCm39)	missense	probably benign	0.13
R8079:Fem1b	UTSW	9	62,703,643 (GRCm39)	missense	probably damaging	1.00
R8110:Fem1b	UTSW	9	62,703,550 (GRCm39)	missense	probably damaging	1.00
R8682:Fem1b	UTSW	9	62,704,432 (GRCm39)	nonsense	probably null
R8924:Fem1b	UTSW	9	62,704,916 (GRCm39)	missense	probably damaging	0.99
R9334:Fem1b	UTSW	9	62,703,604 (GRCm39)	nonsense	probably null
R9592:Fem1b	UTSW	9	62,704,959 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGGCCTGTTGTACTGGAC -3'
(R):5'- TGCAGTGTCTTGGAAATAGAGC -3'

Sequencing Primer
(F):5'- ATAATGTGGAGGGCACTGTTCCC -3'
(R):5'- TGTCTTGGAAATAGAGCAGAGC -3'

Posted On

2015-02-05