Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01820:Fam131c'

154492

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: 0.060) question?

Stock #

IGL01820

Quality Score

Status

Chromosome

Chromosomal Location

141095531-141111486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141107648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 53 (C53R)

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: C53R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006380
Gene: ENSMUSG00000006218
AA Change: C53R

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,896 (GRCm39)		probably benign	Het
Adcy2	T	C	13: 68,886,664 (GRCm39)		probably null	Het
Akna	G	T	4: 63,304,495 (GRCm39)	T553N	probably benign	Het
Boc	A	G	16: 44,312,235 (GRCm39)	I609T	possibly damaging	Het
Btbd9	C	T	17: 30,746,383 (GRCm39)	V148I	possibly damaging	Het
Cacna1d	A	T	14: 29,764,823 (GRCm39)	I2049N	possibly damaging	Het
Cdhr1	A	T	14: 36,807,536 (GRCm39)	M368K	probably benign	Het
Cftr	A	G	6: 18,226,138 (GRCm39)	Y362C	probably damaging	Het
Cnppd1	G	T	1: 75,116,236 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,360,768 (GRCm39)	I66T	unknown	Het
Col5a2	C	A	1: 45,481,985 (GRCm39)	M46I	unknown	Het
Csmd3	G	T	15: 47,470,538 (GRCm39)	C3379*	probably null	Het
Ctla2b	T	A	13: 61,044,503 (GRCm39)	*28C	probably null	Het
Ddhd2	C	T	8: 26,239,781 (GRCm39)	E33K	possibly damaging	Het
Dock3	T	C	9: 106,773,092 (GRCm39)	H387R	probably damaging	Het
Dyrk1b	T	A	7: 27,881,025 (GRCm39)		probably benign	Het
Fat1	T	A	8: 45,463,539 (GRCm39)	F1360L	probably damaging	Het
Gm10320	G	T	13: 98,626,045 (GRCm39)	S113*	probably null	Het
Ifih1	T	C	2: 62,447,657 (GRCm39)	D349G	probably damaging	Het
Il12a	T	C	3: 68,599,495 (GRCm39)		probably benign	Het
Ivl	A	T	3: 92,478,940 (GRCm39)	M375K	possibly damaging	Het
Krt82	C	A	15: 101,451,887 (GRCm39)		probably benign	Het
Mc4r	C	T	18: 66,992,226 (GRCm39)	V296I	probably benign	Het
Met	T	A	6: 17,534,230 (GRCm39)	I691N	possibly damaging	Het
Mycbp2	A	T	14: 103,425,937 (GRCm39)	I2396K	probably damaging	Het
Napg	C	A	18: 63,119,516 (GRCm39)	Q135K	probably benign	Het
Nf2	A	T	11: 4,739,655 (GRCm39)		probably null	Het
Nrxn1	G	T	17: 90,950,531 (GRCm39)	H549Q	probably damaging	Het
P4ha1	T	A	10: 59,197,736 (GRCm39)	I321K	probably damaging	Het
Prl5a1	T	C	13: 28,332,683 (GRCm39)	S94P	probably benign	Het
Prnp	T	C	2: 131,778,990 (GRCm39)	V214A	probably benign	Het
Ptprc	A	T	1: 137,993,936 (GRCm39)	F1165I	probably damaging	Het
Rdh10	T	C	1: 16,198,483 (GRCm39)	V207A	possibly damaging	Het
Rel	A	T	11: 23,703,218 (GRCm39)	N131K	probably benign	Het
Rgs14	A	T	13: 55,531,338 (GRCm39)	D448V	probably benign	Het
Spag5	T	G	11: 78,195,085 (GRCm39)	S131A	probably benign	Het
Styxl1	C	T	5: 135,794,604 (GRCm39)	D88N	probably damaging	Het
Tlr3	C	T	8: 45,851,376 (GRCm39)	R507H	probably benign	Het
Ttn	C	T	2: 76,616,670 (GRCm39)	E16528K	possibly damaging	Het
Txlnb	T	C	10: 17,682,606 (GRCm39)		probably null	Het
Unc13a	A	G	8: 72,107,591 (GRCm39)	V567A	probably damaging	Het
Vmn1r8	T	C	6: 57,013,653 (GRCm39)	S235P	possibly damaging	Het
Vmn2r51	T	A	7: 9,839,409 (GRCm39)	N60Y	probably damaging	Het
Wbp1l	T	A	19: 46,640,922 (GRCm39)	L68Q	probably damaging	Het
Wdfy3	A	T	5: 102,071,947 (GRCm39)	V981E	probably benign	Het
Zdhhc13	T	C	7: 48,458,613 (GRCm39)	S316P	probably damaging	Het
Zfp516	C	T	18: 83,005,486 (GRCm39)	R797C	probably benign	Het
Zp3r	A	G	1: 130,526,657 (GRCm39)	V182A	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
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

2014-02-04