Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01564:Fam131c'

90943

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam131c

Ensembl Gene

ENSMUSG00000006218

Gene Name

family with sequence similarity 131, member C

Synonyms

LOC277743

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01564

Quality Score

Status

Chromosome

Chromosomal Location

141095531-141111486 bp(+) (GRCm39)

Type of Mutation

splice site (4937 bp from exon)

DNA Base Change (assembly)

T to A at 141106984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006380] [ENSMUST00000042617] [ENSMUST00000105790]

AlphaFold

A2ADB2

Predicted Effect

probably benign
Transcript: ENSMUST00000006380

SMART Domains

Protein: ENSMUSP00000006380
Gene: ENSMUSG00000006218

Domain	Start	End	E-Value	Type
Pfam:FAM131	62	258	1.4e-47	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000042617

SMART Domains

Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	102	514	2.1e-69	PFAM
CBS	554	604	6.54e-6	SMART
Pfam:CBS	623	679	5.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105790

SMART Domains

Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	101	514	3.1e-75	PFAM
CBS	554	604	6.54e-6	SMART
Blast:CBS	629	678	1e-20	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	A	10: 80,442,693 (GRCm39)	M177K	probably damaging	Het
Ankrd28	G	T	14: 31,477,724 (GRCm39)	T48K	probably damaging	Het
Capn3	T	C	2: 120,311,189 (GRCm39)	I112T	probably damaging	Het
Clec3a	T	A	8: 115,152,282 (GRCm39)	I96N	probably damaging	Het
Clic4	C	T	4: 134,944,504 (GRCm39)	A224T	probably damaging	Het
Eif2b3	T	C	4: 116,885,739 (GRCm39)	Y94H	probably benign	Het
Ep300	A	T	15: 81,516,665 (GRCm39)		probably benign	Het
Errfi1	C	A	4: 150,951,487 (GRCm39)	T305N	probably damaging	Het
Fbxo11	G	A	17: 88,310,324 (GRCm39)	T494I	probably benign	Het
Homer2	T	C	7: 81,268,320 (GRCm39)		probably null	Het
Hpf1	C	A	8: 61,343,513 (GRCm39)		probably benign	Het
Hspa1b	T	C	17: 35,176,525 (GRCm39)	N487D	probably benign	Het
Ikbke	C	A	1: 131,185,658 (GRCm39)	A617S	probably benign	Het
Jade1	G	T	3: 41,551,084 (GRCm39)	R174S	possibly damaging	Het
Lcmt1	T	C	7: 123,003,663 (GRCm39)	F139S	probably benign	Het
Lipo2	T	C	19: 33,698,424 (GRCm39)	T318A	probably benign	Het
Lrp1b	C	T	2: 40,567,498 (GRCm39)		probably benign	Het
Lsm14a	T	C	7: 34,088,780 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,345 (GRCm39)	D393G	probably benign	Het
Nfyb	T	C	10: 82,588,260 (GRCm39)	Y137C	probably damaging	Het
Or10g1	T	C	14: 52,648,299 (GRCm39)	D10G	probably benign	Het
Or5d35	A	T	2: 87,855,648 (GRCm39)	H194L	probably benign	Het
Or5p55	T	C	7: 107,567,198 (GRCm39)	I198T	probably benign	Het
Scn3a	A	C	2: 65,291,790 (GRCm39)	I1652S	probably damaging	Het
Slc33a1	C	T	3: 63,850,768 (GRCm39)	V519I	probably benign	Het
Strada	G	T	11: 106,064,118 (GRCm39)	N66K	probably damaging	Het
Thoc2l	A	T	5: 104,668,529 (GRCm39)	Y1017F	probably benign	Het
Tlr1	T	A	5: 65,083,189 (GRCm39)	I463F	probably damaging	Het
Tnfrsf19	G	T	14: 61,212,058 (GRCm39)	F197L	possibly damaging	Het
Tph1	T	A	7: 46,300,305 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,646,922 (GRCm39)	L3287H	probably damaging	Het
Vmn2r18	A	T	5: 151,508,633 (GRCm39)	S164T	possibly damaging	Het
Zan	C	T	5: 137,444,995 (GRCm39)	V1755I	unknown	Het
Zmym4	T	C	4: 126,805,073 (GRCm39)	I396V	possibly damaging	Het

Other mutations in Fam131c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Fam131c	APN	4	141,109,761 (GRCm39)	missense	possibly damaging	0.83
IGL01623:Fam131c	APN	4	141,109,761 (GRCm39)	missense	possibly damaging	0.83
IGL01820:Fam131c	APN	4	141,107,648 (GRCm39)	missense	probably damaging	0.98
IGL02726:Fam131c	APN	4	141,110,113 (GRCm39)	missense	probably benign	0.19
IGL03163:Fam131c	APN	4	141,110,069 (GRCm39)	missense	probably damaging	1.00
R1523:Fam131c	UTSW	4	141,110,142 (GRCm39)	missense	probably benign
R5330:Fam131c	UTSW	4	141,110,141 (GRCm39)	missense	probably benign
R5331:Fam131c	UTSW	4	141,110,141 (GRCm39)	missense	probably benign
R6464:Fam131c	UTSW	4	141,109,653 (GRCm39)	missense	probably damaging	0.97
R7179:Fam131c	UTSW	4	141,110,328 (GRCm39)	splice site	probably null
X0019:Fam131c	UTSW	4	141,107,072 (GRCm39)	missense	probably benign	0.03

Posted On

2013-12-09