Mutagenetix > Incidental Mutations

Incidental Mutation 'R4275:Fam131b'

324753

Institutional Source

Beutler Lab

Gene Symbol

Fam131b

Ensembl Gene

ENSMUSG00000029861

Gene Name

family with sequence similarity 131, member B

Synonyms

6330503C03Rik, 6530406I18Rik

MMRRC Submission

041646-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R4275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42315312-42324643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42321307 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 43 (L43F)

Ref Sequence

ENSEMBL: ENSMUSP00000093670 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031891
AA Change: L59F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031891
Gene: ENSMUSG00000029861
AA Change: L59F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000095974
AA Change: L43F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093670
Gene: ENSMUSG00000029861
AA Change: L43F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143278
AA Change: L71F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116779
Gene: ENSMUSG00000029861
AA Change: L71F

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

Meta Mutation Damage Score

0.1620

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	T	C	1: 154,493,325	Y322C	probably damaging	Het
Camsap2	A	G	1: 136,270,876	V1462A	probably benign	Het
D3Ertd751e	C	A	3: 41,756,154		probably benign	Het
Dhcr7	C	T	7: 143,843,227	A152V	probably damaging	Het
Enpep	A	T	3: 129,332,278	N68K	probably benign	Het
Fam126b	T	C	1: 58,529,933	T440A	probably benign	Het
Fbxl5	T	A	5: 43,762,772		probably benign	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Igf2	T	C	7: 142,655,786	M46V	probably benign	Het
Kntc1	T	A	5: 123,767,779	Y367N	probably damaging	Het
Mapk8ip2	T	C	15: 89,458,995	W647R	probably damaging	Het
Mettl21c	C	T	1: 44,010,556	V110I	probably damaging	Het
Mrgprh	T	C	17: 12,877,227	L118P	probably damaging	Het
Myadm	A	G	7: 3,297,102	T127A	probably benign	Het
Myh10	A	T	11: 68,751,940		probably null	Het
Nadk	T	A	4: 155,584,255	Y128N	probably benign	Het
Olfr1089	T	C	2: 86,733,592	T7A	probably damaging	Het
Olfr996	T	C	2: 85,579,863	V208A	probably benign	Het
Papolg	A	G	11: 23,868,378	I500T	probably benign	Het
Pkhd1	A	T	1: 20,058,384	C4032S	probably benign	Het
Rnase1	A	T	14: 51,145,870	L9Q	probably damaging	Het
Rspry1	G	T	8: 94,649,761	V304L	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Scpep1	T	C	11: 88,947,142		probably null	Het
Serpina3m	T	A	12: 104,389,116	I14N	probably damaging	Het
Smg6	A	C	11: 74,993,874		probably benign	Het
Suz12	T	C	11: 80,030,053	M593T	probably damaging	Het
Tmem139	A	G	6: 42,264,105	E208G	probably damaging	Het
Tnxb	A	G	17: 34,698,231	Y2200C	probably damaging	Het
Usp19	T	G	9: 108,498,694	V911G	probably damaging	Het
Vipr1	T	C	9: 121,664,618	L245P	probably damaging	Het
Vmn2r105	T	A	17: 20,228,640	I92F	probably damaging	Het
Zfp518b	A	G	5: 38,671,728	V978A	probably damaging	Het
Zfp651	T	A	9: 121,766,539	V576D	probably damaging	Het

Other mutations in Fam131b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Fam131b	APN	6	42318961	missense	probably damaging	1.00
IGL01328:Fam131b	APN	6	42318272	missense	probably damaging	1.00
IGL02948:Fam131b	APN	6	42320992	splice site	probably benign
IGL03226:Fam131b	APN	6	42318954	missense	possibly damaging	0.81
R0027:Fam131b	UTSW	6	42318248	missense	probably benign	0.01
R0027:Fam131b	UTSW	6	42318248	missense	probably benign	0.01
R1730:Fam131b	UTSW	6	42318580	missense	possibly damaging	0.75
R1783:Fam131b	UTSW	6	42318580	missense	possibly damaging	0.75
R1858:Fam131b	UTSW	6	42318980	missense	probably damaging	1.00
R1993:Fam131b	UTSW	6	42320884	missense	possibly damaging	0.94
R1994:Fam131b	UTSW	6	42320884	missense	possibly damaging	0.94
R4636:Fam131b	UTSW	6	42320980	missense	probably damaging	1.00
R5876:Fam131b	UTSW	6	42321248	critical splice donor site	probably null
R5877:Fam131b	UTSW	6	42320979	missense	probably benign	0.09
R5979:Fam131b	UTSW	6	42321971	missense	probably damaging	0.98
R7725:Fam131b	UTSW	6	42318542	missense	probably benign	0.01
Z1177:Fam131b	UTSW	6	42318920	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TCAGGATTGGAGAGGCTTGAC -3'
(R):5'- TATAGACAGGCTATTCTGCTGATCC -3'

Sequencing Primer
(F):5'- CTTGACATAAAACCAGGTGATTCGG -3'
(R):5'- TGATCCCCCAGTATGTACCAGG -3'

Posted On

2015-06-24