Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00551:Fam47c'

332589

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam47c

Ensembl Gene

ENSMUSG00000078315

Gene Name

family with sequence similarity 47, member C

Synonyms

4921509A18Rik, Fam47a-ps

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00551

Quality Score

Status

Chromosome

Chromosomal Location

77781369-77783007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77782060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 214 (E214G)

Ref Sequence

ENSEMBL: ENSMUSP00000137737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105110]

AlphaFold

Q14BE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000105110
AA Change: E214G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137737
Gene: ENSMUSG00000078315
AA Change: E214G

Domain	Start	End	E-Value	Type
Pfam:FAM47	7	222	4.2e-34	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art2b	C	T	7: 101,229,776 (GRCm39)	C41Y	probably damaging	Het
Btk	A	G	X: 133,474,683 (GRCm39)	Y42H	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Ccr5	T	C	9: 123,924,625 (GRCm39)	I76T	probably damaging	Het
Chd3	A	G	11: 69,237,455 (GRCm39)	V1913A	probably damaging	Het
Dmxl2	A	G	9: 54,358,122 (GRCm39)	Y526H	probably damaging	Het
Dnah8	A	T	17: 30,882,452 (GRCm39)	K675*	probably null	Het
Eif2b1	A	G	5: 124,714,932 (GRCm39)	F115L	probably damaging	Het
Erlin1	T	C	19: 44,047,585 (GRCm39)	D112G	probably damaging	Het
Fabp12	A	G	3: 10,311,115 (GRCm39)		probably benign	Het
Fkbp5	G	T	17: 28,620,020 (GRCm39)		probably benign	Het
H1f2	C	A	13: 23,922,828 (GRCm39)		probably benign	Het
Kidins220	G	T	12: 25,088,559 (GRCm39)		probably benign	Het
Limd2	T	C	11: 106,050,031 (GRCm39)	E15G	probably benign	Het
Mga	T	A	2: 119,750,295 (GRCm39)	C696S	possibly damaging	Het
Naa16	A	G	14: 79,593,169 (GRCm39)	F468L	probably damaging	Het
Ndufaf1	A	G	2: 119,490,950 (GRCm39)	S37P	probably damaging	Het
Phrf1	A	G	7: 140,838,790 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,819 (GRCm39)	T228A	probably benign	Het
Rfc1	A	T	5: 65,453,352 (GRCm39)	F265L	probably benign	Het
Selenos	A	G	7: 65,736,942 (GRCm39)	E137G	probably benign	Het
Tars1	T	C	15: 11,388,307 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,698,390 (GRCm39)	I44T	probably benign	Het
Usp26	A	G	X: 50,846,182 (GRCm39)	V31A	probably benign	Het

Other mutations in Fam47c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Fam47c	APN	X	77,781,931 (GRCm39)	missense	probably benign
IGL01313:Fam47c	APN	X	77,781,454 (GRCm39)	missense	probably damaging	0.96
IGL02426:Fam47c	APN	X	77,781,943 (GRCm39)	missense	probably benign

Posted On

2015-08-05