Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02726:Fam131c'

305229

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 #

IGL02726

Quality Score

Status

Chromosome

Chromosomal Location

141095531-141111486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141110113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 170 (D170E)

Ref Sequence

ENSEMBL: ENSMUSP00000006380 (fasta)

Gene Model

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

AlphaFold

A2ADB2

Predicted Effect

probably benign
Transcript: ENSMUST00000006380
AA Change: D170E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006380
Gene: ENSMUSG00000006218
AA Change: D170E

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	T	2: 128,501,705 (GRCm39)	M779K	probably benign	Het
Art1	G	A	7: 101,759,955 (GRCm39)	V85M	probably damaging	Het
Atad2b	G	T	12: 5,024,003 (GRCm39)	E43*	probably null	Het
Clec4a4	A	T	6: 122,967,338 (GRCm39)	I5F	probably damaging	Het
Cr1l	A	T	1: 194,812,188 (GRCm39)	I45N	probably damaging	Het
Dmbt1	T	A	7: 130,676,140 (GRCm39)		probably benign	Het
Dnajb3	A	T	1: 88,133,372 (GRCm39)	V10E	probably damaging	Het
Dnajc22	A	T	15: 98,998,881 (GRCm39)	H22L	probably damaging	Het
Dnal4	A	G	15: 79,647,745 (GRCm39)	V40A	probably damaging	Het
Dsg1b	G	A	18: 20,532,542 (GRCm39)	V529I	probably benign	Het
Elp1	T	A	4: 56,767,878 (GRCm39)		probably null	Het
Got1	G	A	19: 43,488,851 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,349,270 (GRCm39)	V2043E	probably benign	Het
Hmcn1	A	T	1: 150,532,445 (GRCm39)	Y3147*	probably null	Het
Ifi44	T	C	3: 151,455,233 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Ino80	A	T	2: 119,272,964 (GRCm39)	I504N	probably damaging	Het
Itpr2	A	G	6: 146,277,419 (GRCm39)	I655T	probably benign	Het
Kcnk4	A	G	19: 6,904,457 (GRCm39)		probably null	Het
Mrgprb2	T	A	7: 48,202,618 (GRCm39)	R36W	probably damaging	Het
Mslnl	T	C	17: 25,963,077 (GRCm39)		probably null	Het
Or10ak14	T	A	4: 118,610,961 (GRCm39)	Y260F	probably benign	Het
Or1e33	T	C	11: 73,738,691 (GRCm39)	S87G	probably benign	Het
Or2ag1b	A	C	7: 106,288,577 (GRCm39)	Y120*	probably null	Het
Or8k16	G	T	2: 85,520,554 (GRCm39)	L260F	possibly damaging	Het
Pcnx4	G	T	12: 72,620,986 (GRCm39)	M935I	probably benign	Het
Pdgfra	C	T	5: 75,355,618 (GRCm39)	Q1043*	probably null	Het
Pf4	T	C	5: 90,920,523 (GRCm39)	V28A	probably benign	Het
Piezo1	A	G	8: 123,213,894 (GRCm39)	L1689P	probably damaging	Het
Ppa2	A	G	3: 133,076,222 (GRCm39)	S284G	possibly damaging	Het
Pramel22	G	T	4: 143,381,955 (GRCm39)	P247H	probably damaging	Het
Psd2	T	C	18: 36,120,355 (GRCm39)		probably null	Het
Rbm25	G	T	12: 83,719,626 (GRCm39)	G549W	probably damaging	Het
Ryr2	T	C	13: 11,753,206 (GRCm39)	D1705G	probably damaging	Het
Shf	A	T	2: 122,189,969 (GRCm39)	D96E	probably damaging	Het
Slc1a1	G	A	19: 28,889,169 (GRCm39)	V481M	probably benign	Het
Slc4a9	T	C	18: 36,672,670 (GRCm39)	V807A	probably benign	Het
Syne2	T	A	12: 76,062,356 (GRCm39)	I4226N	probably damaging	Het
Tex56	A	G	13: 35,136,943 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,573,576 (GRCm39)	V254E	possibly damaging	Het
Ubr2	A	C	17: 47,283,847 (GRCm39)	Y601D	probably damaging	Het
Ubr5	A	C	15: 38,000,806 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,854 (GRCm39)	I50K	possibly damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	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
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

2015-04-16