Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00507:Fam47c'

332525

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 #

IGL00507

Quality Score

Status

Chromosome

Chromosomal Location

77781369-77783007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77781931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 171 (D171V)

Ref Sequence

ENSEMBL: ENSMUSP00000137737 (fasta)

Gene Model

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

AlphaFold

Q14BE7

Predicted Effect

probably benign
Transcript: ENSMUST00000105110
AA Change: D171V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137737
Gene: ENSMUSG00000078315
AA Change: D171V

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	T	9: 54,529,712 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,796 (GRCm39)	R1450S	possibly damaging	Het
Apc	A	G	18: 34,449,979 (GRCm39)	I2258V	probably benign	Het
Atxn2l	C	A	7: 126,095,756 (GRCm39)	A374S	possibly damaging	Het
Cacna1a	T	A	8: 85,297,837 (GRCm39)	Y1182*	probably null	Het
Cc2d1b	G	T	4: 108,486,927 (GRCm39)	A647S	probably damaging	Het
Csn2	A	G	5: 87,842,632 (GRCm39)	S116P	probably benign	Het
Eya4	G	A	10: 23,033,434 (GRCm39)	Q163*	probably null	Het
Fhdc1	A	T	3: 84,356,107 (GRCm39)	C446S	probably damaging	Het
Fkbp9	T	A	6: 56,827,686 (GRCm39)	V169E	probably damaging	Het
Fras1	A	T	5: 96,926,048 (GRCm39)	I3751F	probably damaging	Het
Gkn1	T	C	6: 87,323,321 (GRCm39)	Y164C	probably damaging	Het
Hs3st5	T	C	10: 36,708,918 (GRCm39)	I151T	probably benign	Het
Ighv8-6	A	T	12: 115,129,472 (GRCm39)	S95T	probably damaging	Het
Loxhd1	A	G	18: 77,420,263 (GRCm39)	I296V	probably benign	Het
Lrrc66	T	C	5: 73,764,457 (GRCm39)	E862G	probably benign	Het
Ltbp3	T	C	19: 5,806,044 (GRCm39)	V934A	probably damaging	Het
Mpp3	A	T	11: 101,892,929 (GRCm39)	I501K	possibly damaging	Het
Mroh2b	C	T	15: 4,991,609 (GRCm39)	T1569I	probably damaging	Het
Nup133	A	T	8: 124,645,706 (GRCm39)	Y626*	probably null	Het
Pak3	T	A	X: 142,572,329 (GRCm39)	N477K	probably damaging	Het
Plod3	A	G	5: 137,025,030 (GRCm39)	H714R	possibly damaging	Het
Ppil1	T	C	17: 29,470,675 (GRCm39)	N102S	probably damaging	Het
Rapgef6	A	T	11: 54,554,935 (GRCm39)	R996*	probably null	Het
Scd3	G	A	19: 44,224,273 (GRCm39)	D169N	probably damaging	Het
Sgo2a	T	A	1: 58,055,753 (GRCm39)	F646I	probably damaging	Het
Slc5a8	A	G	10: 88,743,902 (GRCm39)	Y346C	possibly damaging	Het
Slc7a15	A	T	12: 8,585,474 (GRCm39)	V49E	probably damaging	Het
Stard8	G	A	X: 98,112,941 (GRCm39)	E649K	probably damaging	Het

Other mutations in Fam47c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Fam47c	APN	X	77,782,060 (GRCm39)	missense	probably damaging	1.00
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