Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU23:Fem1b'

262641

Institutional Source

Beutler Lab

Gene Symbol

Fem1b

Ensembl Gene

ENSMUSG00000032244

Gene Name

feminization 1 homolog b (C. elegans)

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

ANU23

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62791821-62811934 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62797528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 150 (A150V)

Ref Sequence

ENSEMBL: ENSMUSP00000034775 (fasta)

Gene Model

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

AlphaFold

Q9Z2G0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034775
AA Change: A150V

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034775
Gene: ENSMUSG00000032244
AA Change: A150V

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: 98.7%
3x: 98.2%
10x: 96.6%
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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	G	A	12: 70,169,048	G88S	probably damaging	Het
Acot10	A	G	15: 20,665,965	F230S	probably benign	Het
Akap12	G	T	10: 4,353,273	A28S	probably benign	Het
Anks1	C	A	17: 27,986,253	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,313,509	Y349H	possibly damaging	Het
Cacna1g	G	A	11: 94,466,228		probably benign	Het
Camsap2	T	A	1: 136,297,790	E199D	probably benign	Het
Ccdc13	A	T	9: 121,827,363	M128K	probably benign	Het
Ccdc38	T	C	10: 93,569,935		probably null	Het
Cep95	G	A	11: 106,813,815	V499I	probably benign	Het
Cpne6	G	C	14: 55,512,002	M6I	probably benign	Het
Cpne6	A	T	14: 55,515,249	I299F	probably damaging	Het
Cse1l	T	A	2: 166,927,508	Y278*	probably null	Het
Dip2c	A	G	13: 9,575,143	N558D	possibly damaging	Het
Edar	A	T	10: 58,628,638	C60S	probably damaging	Het
Fat2	T	C	11: 55,310,872	N459D	probably benign	Het
Fbxw8	C	T	5: 118,113,720	V243M	possibly damaging	Het
Gm5422	A	T	10: 31,249,436		noncoding transcript	Het
Gpatch3	CAGGAGGAGGAGGAGGAG	CAGGAGGAGGAGGAG	4: 133,578,302		probably benign	Het
Grin2c	T	C	11: 115,256,194	T392A	probably benign	Het
Idh3a	T	A	9: 54,586,545		probably null	Het
Itpk1	T	C	12: 102,606,103	E117G	probably damaging	Het
Kif12	G	T	4: 63,165,884	P627Q	probably damaging	Het
Krtap15	T	A	16: 88,829,367	F88L	probably benign	Het
Mcm7	C	T	5: 138,170,391	V13I	probably benign	Het
Mlh1	T	C	9: 111,252,912	N248D	possibly damaging	Het
Olfr617	T	C	7: 103,584,693	Y224H	probably damaging	Het
Olfr727	A	G	14: 50,126,582	N2D	probably benign	Het
Olfr94	T	C	17: 37,196,942	N342S	probably benign	Het
Per2	T	C	1: 91,448,833	H106R	probably damaging	Het
Pfkl	T	A	10: 77,991,395	T486S	probably benign	Het
Prkdc	T	C	16: 15,667,731	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,609,422	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,154,665	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,183,995	A110E	probably benign	Het
Siglecf	T	A	7: 43,351,953	L115*	probably null	Het
Slc6a11	C	T	6: 114,134,665	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,946,587	K18*	probably null	Het
Spata1	A	T	3: 146,487,399	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,180,524	T440I	probably benign	Het
Vmn1r159	A	G	7: 22,843,163	V148A	probably damaging	Het
Wnt16	C	T	6: 22,297,935	R267C	probably damaging	Het
Xylt1	A	C	7: 117,548,890	S230R	probably benign	Het
Zfp334	T	C	2: 165,381,097	H342R	probably damaging	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
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
R1697:Fem1b	UTSW	9	62797174	missense	possibly damaging	0.56
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'- GGCCATTCACCACTATTGCAGCTC -3'
(R):5'- ATGTCATTGACGGTGCCACTGCTC -3'

Sequencing Primer
(F):5'- ATTGCAGCTCTCCATTTTATCAG -3'
(R):5'- GGTGCCACTGCTCTTTGG -3'

Posted On

2015-02-04