Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Fem1b'

192338

Institutional Source

Beutler Lab

Gene Symbol

Fem1b

Ensembl Gene

ENSMUSG00000032244

Gene Name

feminization 1 homolog b (C. elegans)

Synonyms

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62791821-62811934 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62797174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 268 (D268G)

Ref Sequence

ENSEMBL: ENSMUSP00000034775 (fasta)

Gene Model

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

AlphaFold

Q9Z2G0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034775
AA Change: D268G

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034775
Gene: ENSMUSG00000032244
AA Change: D268G

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

0.1693

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

Other mutations in Fem1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Fem1b	APN	9	62796919	missense	probably damaging	1.00
IGL01306:Fem1b	APN	9	62797528	missense	possibly damaging	0.69
IGL02059:Fem1b	APN	9	62796164	missense	possibly damaging	0.57
IGL02292:Fem1b	APN	9	62796695	missense	probably benign	0.00
IGL03390:Fem1b	APN	9	62796964	missense	probably benign	0.01
physeter	UTSW	9	62797634	missense	probably damaging	0.99
ANU23:Fem1b	UTSW	9	62797528	missense	possibly damaging	0.69
R0054:Fem1b	UTSW	9	62796800	missense	probably damaging	1.00
R0054:Fem1b	UTSW	9	62796800	missense	probably damaging	1.00
R0733:Fem1b	UTSW	9	62796843	missense	possibly damaging	0.50
R1661:Fem1b	UTSW	9	62797274	missense	probably damaging	0.96
R2228:Fem1b	UTSW	9	62796738	nonsense	probably null
R2326:Fem1b	UTSW	9	62797003	missense	probably damaging	0.98
R3123:Fem1b	UTSW	9	62796554	missense	probably benign	0.00
R3124:Fem1b	UTSW	9	62796554	missense	probably benign	0.00
R3125:Fem1b	UTSW	9	62796554	missense	probably benign	0.00
R4849:Fem1b	UTSW	9	62797294	missense	probably damaging	1.00
R5749:Fem1b	UTSW	9	62797006	missense	probably damaging	1.00
R6338:Fem1b	UTSW	9	62797011	missense	probably benign	0.08
R6727:Fem1b	UTSW	9	62796733	missense	possibly damaging	0.65
R7036:Fem1b	UTSW	9	62797028	missense	probably damaging	1.00
R7287:Fem1b	UTSW	9	62796122	missense	probably benign	0.00
R7538:Fem1b	UTSW	9	62811167	missense	probably damaging	0.98
R7877:Fem1b	UTSW	9	62796562	missense	probably benign	0.13
R8079:Fem1b	UTSW	9	62796361	missense	probably damaging	1.00
R8110:Fem1b	UTSW	9	62796268	missense	probably damaging	1.00
R8682:Fem1b	UTSW	9	62797150	nonsense	probably null
R8924:Fem1b	UTSW	9	62797634	missense	probably damaging	0.99
R9334:Fem1b	UTSW	9	62796322	nonsense	probably null
R9592:Fem1b	UTSW	9	62797677	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATCTCTGTCTTGCCGAATAGCC -3'
(R):5'- CACAGCTTTGCACTTTGCAGCC -3'

Sequencing Primer
(F):5'- CGAATAGCCTCCAATTCCTGTG -3'
(R):5'- CGAAGCTGGTCACATTGACATTG -3'

Posted On

2014-05-14