Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01863:Fam46c'

178431

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 #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

100451628-100489324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100472664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 259 (D259N)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

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

AlphaFold

Q5SSF7

Predicted Effect

probably benign
Transcript: ENSMUST00000061455
AA Change: D259N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: D259N

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	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
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

2014-05-07