Mutagenetix > Incidental Mutation

Incidental Mutation 'R5876:Fam131b'

455525

Institutional Source

Beutler Lab

Gene Symbol

Fam131b

Ensembl Gene

ENSMUSG00000029861

Gene Name

family with sequence similarity 131, member B

Synonyms

6330503C03Rik, 6530406I18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5876 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42315312-42324643 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 42321248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116779 (fasta)

Gene Model

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

AlphaFold

Q3TY60

Predicted Effect

probably null
Transcript: ENSMUST00000031891

SMART Domains

Protein: ENSMUSP00000031891
Gene: ENSMUSG00000029861

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

Predicted Effect

probably null
Transcript: ENSMUST00000095974

SMART Domains

Protein: ENSMUSP00000093670
Gene: ENSMUSG00000029861

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

Predicted Effect

probably null
Transcript: ENSMUST00000143278

SMART Domains

Protein: ENSMUSP00000116779
Gene: ENSMUSG00000029861

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,663,582	D64G	possibly damaging	Het
Ano2	T	A	6: 126,039,279	M925K	possibly damaging	Het
Arnt2	T	C	7: 84,347,512	T69A	probably damaging	Het
Asap2	T	A	12: 21,212,809	N229K	possibly damaging	Het
Atp13a3	T	A	16: 30,362,734	N23Y	probably benign	Het
Cbr4	G	A	8: 61,490,593	G91R	possibly damaging	Het
Cdc27	A	T	11: 104,515,418	C624S	probably benign	Het
Cdc42bpg	T	A	19: 6,310,815	I201N	probably damaging	Het
Cdh5	A	G	8: 104,142,577	Y645C	probably damaging	Het
Celsr2	C	T	3: 108,413,943	V518I	probably damaging	Het
Clca4b	T	C	3: 144,912,060	T761A	possibly damaging	Het
Cpne4	C	A	9: 104,925,770	S204R	probably damaging	Het
Dcaf1	T	C	9: 106,863,650	W1279R	probably damaging	Het
Dennd4a	C	T	9: 64,911,755	P1731S	probably damaging	Het
Dmxl1	T	A	18: 49,870,984	V892D	possibly damaging	Het
Fam83b	T	A	9: 76,491,850	D657V	possibly damaging	Het
Fam83e	T	A	7: 45,722,363		probably null	Het
Fbxo4	A	T	15: 3,977,819	I121N	probably damaging	Het
Gabrg2	A	G	11: 41,968,820	S202P	probably damaging	Het
Gm10471	T	C	5: 26,084,718	E237G	probably damaging	Het
Grid2	T	A	6: 64,663,162	I788N	probably damaging	Het
Grik4	T	A	9: 42,688,023	N53Y	probably damaging	Het
Hipk2	A	C	6: 38,730,867		probably null	Het
Hps5	T	C	7: 46,789,196	T38A	probably damaging	Het
Hs1bp3	A	G	12: 8,341,843	D315G	possibly damaging	Het
Kdm4a	C	T	4: 118,138,876	M985I	probably damaging	Het
Kdm5d	A	G	Y: 900,525	Y190C	probably damaging	Het
Krt86	T	C	15: 101,476,610	S295P	probably damaging	Het
Matr3	T	A	18: 35,587,738	D413E	probably benign	Het
Mbd5	T	A	2: 49,274,645	F319L	probably damaging	Het
Mcoln1	T	A	8: 3,510,910	Y411N	probably damaging	Het
Mpdz	C	A	4: 81,285,474	E1863*	probably null	Het
Mrps9	A	G	1: 42,895,378	E173G	probably damaging	Het
Olfr8	A	T	10: 78,955,357	I51F	probably benign	Het
Osmr	T	C	15: 6,821,047	T692A	probably benign	Het
Pkhd1l1	A	T	15: 44,578,588	H3641L	possibly damaging	Het
Pml	T	C	9: 58,233,182	T421A	possibly damaging	Het
Podxl	A	G	6: 31,528,456		probably null	Het
Ppargc1b	C	G	18: 61,309,093	D591H	probably damaging	Het
Prkag3	A	G	1: 74,748,816		probably benign	Het
Proz	A	G	8: 13,073,448	R240G	probably benign	Het
Ptpn13	C	A	5: 103,476,960	D43E	probably damaging	Het
Rbm5	T	G	9: 107,760,326	K135N	probably damaging	Het
Ska1	G	A	18: 74,197,528	T201M	probably damaging	Het
Slc35f5	A	C	1: 125,587,363		probably null	Het
Slc9a3	T	C	13: 74,161,723	L510P	probably damaging	Het
Svil	A	G	18: 5,082,828	K1231E	probably damaging	Het
Tanc2	T	C	11: 105,922,613	S1628P	possibly damaging	Het
Tm9sf3	T	A	19: 41,240,584	D260V	probably damaging	Het
Ttc9	G	T	12: 81,631,622	R73L	probably damaging	Het
Vps13b	A	G	15: 35,917,061	I3684V	probably damaging	Het
Vps8	T	C	16: 21,461,439		probably null	Het
Vwa3b	T	A	1: 37,076,439	I328N	probably damaging	Het
Wdr1	C	T	5: 38,530,023	V222M	probably benign	Het
Xpnpep1	T	A	19: 52,997,008	T530S	probably damaging	Het
Zc3h6	C	T	2: 128,993,277	S111F	probably benign	Het
Zfp768	G	A	7: 127,344,546	P137S	probably benign	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
R4275:Fam131b	UTSW	6	42321307	missense	probably damaging	1.00
R4636:Fam131b	UTSW	6	42320980	missense	probably damaging	1.00
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
R9023:Fam131b	UTSW	6	42322012	missense	possibly damaging	0.73
Z1177:Fam131b	UTSW	6	42318920	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AACAGATTCTGCAGTCATCCCTAC -3'
(R):5'- GGGTATCTATCTTCCTGGGAGC -3'

Sequencing Primer
(F):5'- CCAGGACCCATGGGATTCC -3'
(R):5'- TGGGAGCCAGAAACTCTATTC -3'

Posted On

2017-02-10