Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02436:Fam46c'

293275

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam46c

Ensembl Gene

ENSMUSG00000044468

Gene Name

family with sequence similarity 46, member C

Synonyms

4930431B09Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02436

Quality Score

Status

Chromosome

Chromosomal Location

100451628-100489324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100472507 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 311 (R311L)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061455]

Predicted Effect

probably benign
Transcript: ENSMUST00000061455
AA Change: R311L

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: R311L

Domain	Start	End	E-Value	Type
DUF1693	17	336	3.33e-241	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139833

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypochromic microcytic anemia and decreased B cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC005561	T	A	5: 104,521,155	I1181K	probably benign	Het
Carm1	A	T	9: 21,579,462	R209W	probably damaging	Het
Clec4a2	A	G	6: 123,140,678	D185G	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dyrk3	A	G	1: 131,128,865	S524P	probably benign	Het
Gm17175	A	T	14: 51,569,651		probably benign	Het
Hdx	A	T	X: 111,600,748	D512E	probably damaging	Het
Hs6st2	T	G	X: 51,680,014	T275P	possibly damaging	Het
Hus1	T	C	11: 9,006,057	I159V	possibly damaging	Het
Lrrc37a	T	C	11: 103,498,177	T2141A	unknown	Het
Ncoa7	A	T	10: 30,694,147	I272N	probably damaging	Het
Olfr286	G	T	15: 98,227,290	C118*	probably null	Het
P3h2	T	C	16: 25,997,200	K188E	probably benign	Het
Pcsk5	A	G	19: 17,564,708		probably null	Het
Pramef12	G	T	4: 144,392,969	P343T	possibly damaging	Het
Scn1a	G	A	2: 66,351,153	P9S	probably benign	Het
Slc7a9	C	A	7: 35,457,053	L307I	probably benign	Het
Srebf2	G	A	15: 82,197,727	G87S	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tex30	T	C	1: 44,088,505		probably null	Het
Tnrc6a	C	T	7: 123,184,215	R970*	probably null	Het
Vgll2	A	T	10: 52,025,222	R83*	probably null	Het

Other mutations in Fam46c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Fam46c	APN	3	100473356	missense	probably damaging	0.96
IGL01314:Fam46c	APN	3	100473174	missense	probably benign	0.18
IGL01409:Fam46c	APN	3	100473169	missense	probably damaging	1.00
IGL01817:Fam46c	APN	3	100472855	missense	probably damaging	1.00
IGL01863:Fam46c	APN	3	100472664	missense	probably benign	0.05
IGL01992:Fam46c	APN	3	100472630	missense	probably damaging	1.00
R0111:Fam46c	UTSW	3	100472786	missense	probably damaging	1.00
R0529:Fam46c	UTSW	3	100472370	missense	probably benign	0.36
R1196:Fam46c	UTSW	3	100473000	missense	possibly damaging	0.73
R1242:Fam46c	UTSW	3	100472876	missense	probably damaging	1.00
R4671:Fam46c	UTSW	3	100473199	missense	probably benign	0.44
R5252:Fam46c	UTSW	3	100472708	missense	probably damaging	1.00
R6730:Fam46c	UTSW	3	100472957	missense	probably benign	0.07
R8205:Fam46c	UTSW	3	100472822	missense	probably benign	0.04
R8282:Fam46c	UTSW	3	100473011	missense	probably damaging	1.00
R8483:Fam46c	UTSW	3	100472468	missense	probably damaging	1.00

Posted On

2015-04-16