Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Fem1b'

514332

Institutional Source

Beutler Lab

Gene Symbol

Fem1b

Ensembl Gene

ENSMUSG00000032244

Gene Name

fem 1 homolog b

Synonyms

MMRRC Submission

044492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62699106-62718930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62704293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 322 (D322E)

Ref Sequence

ENSEMBL: ENSMUSP00000034775 (fasta)

Gene Model

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

AlphaFold

Q9Z2G0

Predicted Effect

probably benign
Transcript: ENSMUST00000034775
AA Change: D322E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034775
Gene: ENSMUSG00000032244
AA Change: D322E

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

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Or56b2	T	A	7: 104,337,378 (GRCm39)	V52E	possibly damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Pold3	A	G	7: 99,737,312 (GRCm39)	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,630,505 (GRCm39)		probably null	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,318,360 (GRCm39)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,241,229 (GRCm39)	I183T	probably damaging	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,559,643 (GRCm39)	V110I	probably benign	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Unc13c	T	A	9: 73,641,729 (GRCm39)	I1255F	probably damaging	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	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
R3125: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
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'- TGAGCAAACCGAAGCAGATC -3'
(R):5'- GTGCCTCCTTTGCAAATGATC -3'

Sequencing Primer
(F):5'- CAAACCGAAGCAGATCTTTGTG -3'
(R):5'- GCCTCCTTTGCAAATGATCGTGAG -3'

Posted On

2018-04-27