Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03163:Fam131c'

411527

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 #

IGL03163

Quality Score

Status

Chromosome

Chromosomal Location

141095531-141111486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141110069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 156 (F156L)

Ref Sequence

ENSEMBL: ENSMUSP00000006380 (fasta)

Gene Model

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

AlphaFold

A2ADB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000006380
AA Change: F156L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000006380
Gene: ENSMUSG00000006218
AA Change: F156L

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

Predicted Effect

probably benign
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 benign
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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,228,191 (GRCm39)	D393V	probably benign	Het
Amz2	C	A	11: 109,319,751 (GRCm39)	Q46K	probably benign	Het
Ankhd1	G	A	18: 36,780,681 (GRCm39)	R1911H	probably damaging	Het
Apba3	A	G	10: 81,105,057 (GRCm39)		probably null	Het
Atxn1l	T	C	8: 110,459,017 (GRCm39)	N415S	probably damaging	Het
Clu	C	T	14: 66,217,235 (GRCm39)	S356F	probably benign	Het
Cluh	T	C	11: 74,556,894 (GRCm39)	V1029A	probably benign	Het
Creb3	C	T	4: 43,566,315 (GRCm39)	L274F	probably damaging	Het
Dcaf8	T	C	1: 172,000,475 (GRCm39)	V211A	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Fbxw21	T	A	9: 108,974,552 (GRCm39)	I323F	probably benign	Het
Fmo9	A	G	1: 166,502,019 (GRCm39)	V202A	possibly damaging	Het
Gipr	C	T	7: 18,896,481 (GRCm39)	W205*	probably null	Het
Gm13941	A	T	2: 110,928,761 (GRCm39)	I99K	unknown	Het
Gpr22	A	T	12: 31,759,171 (GRCm39)	V317E	possibly damaging	Het
Hace1	T	C	10: 45,548,701 (GRCm39)	I582T	probably damaging	Het
Iho1	G	T	9: 108,282,132 (GRCm39)	L519I	probably benign	Het
Khdrbs1	T	C	4: 129,619,508 (GRCm39)	E211G	probably benign	Het
Lonrf1	T	C	8: 36,697,484 (GRCm39)	D500G	probably benign	Het
Lrp2	A	C	2: 69,331,870 (GRCm39)	Y1628*	probably null	Het
Lrrc40	T	C	3: 157,747,224 (GRCm39)	I112T	possibly damaging	Het
Matr3	G	A	18: 35,705,644 (GRCm39)	D190N	probably damaging	Het
Or8c16	T	C	9: 38,130,710 (GRCm39)	V194A	probably benign	Het
Ptpn13	A	T	5: 103,739,212 (GRCm39)	D2326V	probably damaging	Het
Ptpn3	T	C	4: 57,222,020 (GRCm39)	D557G	probably damaging	Het
Rangap1	A	T	15: 81,600,801 (GRCm39)	N194K	probably damaging	Het
Rasgef1c	T	C	11: 49,862,200 (GRCm39)	V363A	possibly damaging	Het
Ric8b	A	G	10: 84,837,686 (GRCm39)	N498D	probably damaging	Het
Scn1a	A	C	2: 66,148,418 (GRCm39)	D22E	probably benign	Het
Spc25	T	G	2: 69,027,548 (GRCm39)	I115L	probably damaging	Het
Sspo	A	G	6: 48,461,266 (GRCm39)	H3569R	probably benign	Het
Stra6l	T	C	4: 45,881,455 (GRCm39)	I439T	probably benign	Het
Trappc12	G	T	12: 28,796,653 (GRCm39)	P293Q	probably damaging	Het
Trcg1	T	C	9: 57,155,630 (GRCm39)	L761P	possibly damaging	Het
Usp15	A	C	10: 123,007,049 (GRCm39)	M144R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,692 (GRCm39)	I271V	probably benign	Het
Zcchc2	T	C	1: 105,958,841 (GRCm39)	V1104A	probably damaging	Het
Zftraf1	A	T	15: 76,543,474 (GRCm39)	L13Q	probably damaging	Het

Other mutations in Fam131c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Fam131c	APN	4	141,106,984 (GRCm39)	splice site	probably null
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
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

2016-08-02