Mutagenetix > Incidental Mutation

Incidental Mutation 'R0027:Fam131b'

15073

Institutional Source

Beutler Lab

Gene Symbol

Fam131b

Ensembl Gene

ENSMUSG00000029861

Gene Name

family with sequence similarity 131, member B

Synonyms

6330503C03Rik, 6530406I18Rik

MMRRC Submission

038322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0027 (G1) of strain 730

Quality Score

Status

Validated

Chromosome

Chromosomal Location

42292246-42301577 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42295182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 304 (M304L)

Ref Sequence

ENSEMBL: ENSMUSP00000093670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031891] [ENSMUST00000031894] [ENSMUST00000095974] [ENSMUST00000143278] [ENSMUST00000164091] [ENSMUST00000168660]

AlphaFold

Q3TY60

Predicted Effect

probably benign
Transcript: ENSMUST00000031891
AA Change: M320L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031891
Gene: ENSMUSG00000029861
AA Change: M320L

Domain	Start	End	E-Value	Type
Pfam:FAM131	49	341	7.4e-128	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031894

SMART Domains

Protein: ENSMUSP00000031894
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
low complexity region	121	130	N/A	INTRINSIC
Pfam:Voltage_CLC	170	572	3.2e-87	PFAM
Blast:CBS	612	662	1e-24	BLAST
low complexity region	723	747	N/A	INTRINSIC
Blast:CBS	830	877	4e-19	BLAST
low complexity region	928	950	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095974
AA Change: M304L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093670
Gene: ENSMUSG00000029861
AA Change: M304L

Domain	Start	End	E-Value	Type
Pfam:FAM131	33	325	4.5e-128	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114684

SMART Domains

Protein: ENSMUSP00000110332
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	3	254	2.6e-42	PFAM
CBS	294	344	1.3e1	SMART
low complexity region	405	429	N/A	INTRINSIC
Blast:CBS	480	524	2e-13	BLAST
low complexity region	575	597	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143278
AA Change: M332L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116779
Gene: ENSMUSG00000029861
AA Change: M332L

Domain	Start	End	E-Value	Type
Pfam:FAM131	61	353	1.9e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163936

SMART Domains

Protein: ENSMUSP00000130148
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC
Pfam:Voltage_CLC	141	261	1.2e-27	PFAM
Pfam:Voltage_CLC	258	501	3.9e-44	PFAM
PDB:2D4Z\|B	520	807	2e-47	PDB
Blast:CBS	541	591	2e-24	BLAST
Blast:CBS	759	806	3e-19	BLAST
low complexity region	857	879	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164091

SMART Domains

Protein: ENSMUSP00000131354
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
low complexity region	121	130	N/A	INTRINSIC
Pfam:Voltage_CLC	170	256	2.9e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169902

Predicted Effect

probably benign
Transcript: ENSMUST00000169024

SMART Domains

Protein: ENSMUSP00000130968
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC
Pfam:Voltage_CLC	141	261	2.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170028

SMART Domains

Protein: ENSMUSP00000132154
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC
Pfam:Voltage_CLC	141	235	8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165780

SMART Domains

Protein: ENSMUSP00000130550
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC
Pfam:Voltage_CLC	141	227	9.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168660

SMART Domains

Protein: ENSMUSP00000126045
Gene: ENSMUSG00000029862

Domain	Start	End	E-Value	Type
low complexity region	88	97	N/A	INTRINSIC
Pfam:Voltage_CLC	136	257	1.1e-22	PFAM

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 77.1%
3x: 64.8%
10x: 37.0%
20x: 19.3%

Validation Efficiency

92% (60/65)

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,285,959 (GRCm39)	I723F	probably damaging	Het
Anapc1	G	T	2: 128,483,431 (GRCm39)	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 98,082,204 (GRCm39)	E1201V	possibly damaging	Het
Cdkl3	C	T	11: 51,923,176 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Ints15	G	A	5: 143,293,817 (GRCm39)	T220I	probably damaging	Het
Kif11	C	T	19: 37,395,431 (GRCm39)		probably benign	Het
Lrpprc	G	A	17: 85,074,435 (GRCm39)	R491*	probably null	Het
Mbtd1	T	C	11: 93,815,375 (GRCm39)	V321A	possibly damaging	Het
Mon2	G	A	10: 122,871,953 (GRCm39)	S357L	possibly damaging	Het
Nopchap1	G	A	10: 83,200,393 (GRCm39)		probably benign	Het
Papola	A	C	12: 105,799,395 (GRCm39)	S675R	probably benign	Het
Pcdh9	T	A	14: 94,126,081 (GRCm39)	I30F	probably null	Het
Prl6a1	T	A	13: 27,502,011 (GRCm39)	L126Q	probably damaging	Het
Rad9b	A	G	5: 122,489,786 (GRCm39)		probably benign	Het
Snrnp40	T	A	4: 130,262,066 (GRCm39)	H151Q	probably damaging	Het
Stard9	A	T	2: 120,533,982 (GRCm39)	Q3413L	probably benign	Het
Ubr4	C	A	4: 139,127,704 (GRCm39)	N567K	probably damaging	Het

Other mutations in Fam131b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Fam131b	APN	6	42,295,895 (GRCm39)	missense	probably damaging	1.00
IGL01328:Fam131b	APN	6	42,295,206 (GRCm39)	missense	probably damaging	1.00
IGL02948:Fam131b	APN	6	42,297,926 (GRCm39)	splice site	probably benign
IGL03226:Fam131b	APN	6	42,295,888 (GRCm39)	missense	possibly damaging	0.81
R0027:Fam131b	UTSW	6	42,295,182 (GRCm39)	missense	probably benign	0.01
R1730:Fam131b	UTSW	6	42,295,514 (GRCm39)	missense	possibly damaging	0.75
R1783:Fam131b	UTSW	6	42,295,514 (GRCm39)	missense	possibly damaging	0.75
R1858:Fam131b	UTSW	6	42,295,914 (GRCm39)	missense	probably damaging	1.00
R1993:Fam131b	UTSW	6	42,297,818 (GRCm39)	missense	possibly damaging	0.94
R1994:Fam131b	UTSW	6	42,297,818 (GRCm39)	missense	possibly damaging	0.94
R4275:Fam131b	UTSW	6	42,298,241 (GRCm39)	missense	probably damaging	1.00
R4636:Fam131b	UTSW	6	42,297,914 (GRCm39)	missense	probably damaging	1.00
R5876:Fam131b	UTSW	6	42,298,182 (GRCm39)	critical splice donor site	probably null
R5877:Fam131b	UTSW	6	42,297,913 (GRCm39)	missense	probably benign	0.09
R5979:Fam131b	UTSW	6	42,298,905 (GRCm39)	missense	probably damaging	0.98
R7725:Fam131b	UTSW	6	42,295,476 (GRCm39)	missense	probably benign	0.01
R9023:Fam131b	UTSW	6	42,298,946 (GRCm39)	missense	possibly damaging	0.73
Z1177:Fam131b	UTSW	6	42,295,854 (GRCm39)	missense	possibly damaging	0.62

Posted On

2012-12-12