Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01409:Fam46c'

79900

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01409

Quality Score

Status

Chromosome

Chromosomal Location

100451628-100489324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100473169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 90 (D90E)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

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

AlphaFold

Q5SSF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061455
AA Change: D90E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: D90E

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap26	C	T	18: 39,110,451		probably benign	Het
Asxl1	T	C	2: 153,392,940		probably benign	Het
Atm	A	T	9: 53,499,171	V1037E	probably benign	Het
Bmp6	A	G	13: 38,485,889	N383S	probably damaging	Het
Btbd11	C	T	10: 85,658,165	A1049V	possibly damaging	Het
Btf3l4	A	C	4: 108,819,197	S103R	probably damaging	Het
Cadps2	T	C	6: 23,587,441	D321G	probably damaging	Het
Ccdc144b	T	A	3: 36,025,928	M227L	possibly damaging	Het
Col24a1	G	A	3: 145,538,564	S1531N	probably benign	Het
Cpb1	T	A	3: 20,249,805	Y365F	possibly damaging	Het
Dpp6	T	C	5: 27,557,601	Y238H	probably damaging	Het
Epha6	G	A	16: 59,655,737	R1089*	probably null	Het
Fga	T	C	3: 83,032,752	F571S	probably damaging	Het
Focad	A	G	4: 88,342,305	T933A	unknown	Het
Gria2	A	G	3: 80,707,697		probably null	Het
Hnrnpul1	T	C	7: 25,724,652	N725S	unknown	Het
Ik	A	T	18: 36,756,921	K534N	probably damaging	Het
Itga8	T	C	2: 12,191,714	T631A	probably benign	Het
Kcnip1	G	T	11: 33,630,593	D214E	probably benign	Het
Kcnk10	A	T	12: 98,490,063	Y170N	probably damaging	Het
Lalba	A	G	15: 98,482,067		probably null	Het
Ly75	A	T	2: 60,321,692		probably null	Het
Myh10	T	C	11: 68,807,219	L1629P	probably damaging	Het
Myo15b	C	A	11: 115,869,504	C1127*	probably null	Het
Neurl4	T	G	11: 69,907,099	N728K	probably damaging	Het
Nrxn3	T	A	12: 89,510,358	F801Y	probably damaging	Het
Nup214	G	T	2: 32,026,931		probably null	Het
Obscn	G	A	11: 59,031,058	R6624C	probably damaging	Het
Olfr123	T	C	17: 37,795,522	F26S	probably damaging	Het
Pdk1	A	G	2: 71,895,779	T344A	probably benign	Het
Pitx2	C	A	3: 129,214,764	S63Y	probably damaging	Het
Ppara	A	C	15: 85,777,643	L28F	probably damaging	Het
Rad54l	G	A	4: 116,105,877	T308I	probably damaging	Het
Sbds	T	C	5: 130,254,066	E7G	probably damaging	Het
Slc22a19	T	C	19: 7,711,130	I22V	probably benign	Het
Slfn10-ps	T	C	11: 83,035,496		noncoding transcript	Het
Spag4	T	C	2: 156,069,332	S396P	possibly damaging	Het
Spef2	C	A	15: 9,716,413	L362F	probably damaging	Het
Srebf2	A	G	15: 82,171,218	T208A	probably damaging	Het
Ssc5d	A	G	7: 4,942,809	T947A	probably benign	Het
Tdp1	T	C	12: 99,909,681	I297T	possibly damaging	Het
Tsen2	T	C	6: 115,559,594	Y104H	possibly damaging	Het
Was	G	A	X: 8,087,816	R229C	probably damaging	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
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
IGL02436:Fam46c	APN	3	100472507	missense	probably benign	0.43
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
R8883:Fam46c	UTSW	3	100472391	missense	probably benign	0.01
R9052:Fam46c	UTSW	3	100473302	missense	probably benign	0.12
R9259:Fam46c	UTSW	3	100472324	missense	probably damaging	1.00

Posted On

2013-11-05