Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03181:Slc51b'

412266

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc51b

Ensembl Gene

ENSMUSG00000053862

Gene Name

solute carrier family 51, beta subunit

Synonyms

Ostb

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03181

Quality Score

Status

Chromosome

Chromosomal Location

65320035-65330055 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 65322447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065894] [ENSMUST00000065894] [ENSMUST00000065894] [ENSMUST00000065894] [ENSMUST00000085453] [ENSMUST00000165682] [ENSMUST00000217172]

AlphaFold

Q80WK2

Predicted Effect

probably null
Transcript: ENSMUST00000065894

SMART Domains

Protein: ENSMUSP00000064494
Gene: ENSMUSG00000053862

Domain	Start	End	E-Value	Type
Pfam:OSTbeta	1	122	1.1e-55	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000065894

SMART Domains

Protein: ENSMUSP00000064494
Gene: ENSMUSG00000053862

Domain	Start	End	E-Value	Type
Pfam:OSTbeta	1	122	1.1e-55	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000065894

SMART Domains

Protein: ENSMUSP00000064494
Gene: ENSMUSG00000053862

Domain	Start	End	E-Value	Type
Pfam:OSTbeta	1	122	1.1e-55	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000065894

SMART Domains

Protein: ENSMUSP00000064494
Gene: ENSMUSG00000053862

Domain	Start	End	E-Value	Type
Pfam:OSTbeta	1	122	1.1e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085453

SMART Domains

Protein: ENSMUSP00000082580
Gene: ENSMUSG00000041696

Domain	Start	End	E-Value	Type
Pfam:Arf	15	154	4e-7	PFAM
Pfam:Roc	22	138	1.5e-8	PFAM
Pfam:Ras	22	185	9.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165682

SMART Domains

Protein: ENSMUSP00000131837
Gene: ENSMUSG00000041696

Domain	Start	End	E-Value	Type
Pfam:Arf	15	155	3.9e-8	PFAM
Pfam:Miro	22	137	9.2e-14	PFAM
Pfam:Ras	22	159	1.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217172

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,240,147 (GRCm39)	V1319A	possibly damaging	Het
Abcb11	T	A	2: 69,158,352 (GRCm39)		probably benign	Het
Acss3	G	T	10: 106,889,249 (GRCm39)	H190Q	probably damaging	Het
Adra2b	C	T	2: 127,205,903 (GRCm39)	T140I	probably benign	Het
Arl1	T	A	10: 88,578,921 (GRCm39)		probably benign	Het
Atp4a	T	G	7: 30,424,129 (GRCm39)	C968G	probably benign	Het
Clec4n	T	C	6: 123,207,474 (GRCm39)	C13R	possibly damaging	Het
Cnot3	T	C	7: 3,656,247 (GRCm39)	Y178H	probably damaging	Het
Col18a1	G	A	10: 76,891,532 (GRCm39)	R1560C	probably damaging	Het
Cyp2c66	T	C	19: 39,130,483 (GRCm39)	F106S	probably benign	Het
Dcn	A	C	10: 97,319,314 (GRCm39)	E30D	probably damaging	Het
Dennd5a	A	T	7: 109,532,865 (GRCm39)	F302I	probably damaging	Het
Dip2b	T	C	15: 100,113,088 (GRCm39)	V1501A	probably damaging	Het
Dnah10	C	T	5: 124,825,521 (GRCm39)	P687S	probably damaging	Het
Drc7	A	G	8: 95,794,755 (GRCm39)	T387A	probably benign	Het
Dusp7	T	A	9: 106,251,009 (GRCm39)	M378K	probably damaging	Het
Ftmt	T	C	18: 52,464,953 (GRCm39)	Y90H	probably damaging	Het
Glb1l3	T	C	9: 26,739,659 (GRCm39)		probably null	Het
Gpatch3	T	C	4: 133,305,433 (GRCm39)	F223L	probably damaging	Het
Gpr158	T	A	2: 21,787,972 (GRCm39)	F538I	probably benign	Het
Gucy2e	A	G	11: 69,121,008 (GRCm39)		probably benign	Het
Hadha	A	G	5: 30,326,524 (GRCm39)	V566A	probably benign	Het
Hectd4	A	T	5: 121,492,021 (GRCm39)	S3787C	possibly damaging	Het
Hnrnpk	A	T	13: 58,542,130 (GRCm39)	D265E	possibly damaging	Het
Hspbp1	G	A	7: 4,687,363 (GRCm39)	R83W	probably damaging	Het
Hspg2	T	A	4: 137,243,248 (GRCm39)	L758Q	probably damaging	Het
Ippk	A	G	13: 49,595,463 (GRCm39)	Y180C	probably damaging	Het
Itpr3	T	A	17: 27,330,242 (GRCm39)	M1620K	probably benign	Het
Klf7	T	C	1: 64,074,885 (GRCm39)	K298R	possibly damaging	Het
Ktn1	A	T	14: 47,970,741 (GRCm39)	T1229S	probably benign	Het
Lefty2	A	G	1: 180,725,115 (GRCm39)	N282D	probably damaging	Het
Lrrc37	A	T	11: 103,507,242 (GRCm39)		probably benign	Het
Nsd1	G	A	13: 55,394,858 (GRCm39)	E820K	probably damaging	Het
Obsl1	C	A	1: 75,469,228 (GRCm39)	A1238S	probably benign	Het
Odr4	G	T	1: 150,239,290 (GRCm39)	P378T	probably benign	Het
Pias2	T	C	18: 77,220,938 (GRCm39)	I391T	possibly damaging	Het
Ppp1r10	G	T	17: 36,241,516 (GRCm39)	G764*	probably null	Het
Ptpra	T	C	2: 130,359,707 (GRCm39)	F158L	probably damaging	Het
Recql	T	C	6: 142,323,918 (GRCm39)	S59G	probably benign	Het
Rrp1b	A	T	17: 32,276,150 (GRCm39)	I566F	probably benign	Het
Sh3yl1	G	A	12: 30,991,979 (GRCm39)	D145N	possibly damaging	Het
Slc35f5	T	A	1: 125,512,922 (GRCm39)	I52N	probably damaging	Het
Smpd4	C	T	16: 17,443,671 (GRCm39)	Q72*	probably null	Het
Spata6	A	G	4: 111,679,963 (GRCm39)	D391G	probably benign	Het
Tnc	T	A	4: 63,885,543 (GRCm39)	D1853V	possibly damaging	Het
Tnks1bp1	C	T	2: 84,893,058 (GRCm39)	T333I	probably benign	Het
Vmn2r100	T	A	17: 19,752,207 (GRCm39)	I813N	probably damaging	Het
Vwa8	T	A	14: 79,246,690 (GRCm39)	H677Q	probably benign	Het
Washc4	T	C	10: 83,426,883 (GRCm39)	Y1064H	probably damaging	Het
Wdr82	T	A	9: 106,063,614 (GRCm39)	I272K	probably benign	Het
Zc3h12a	T	C	4: 125,013,097 (GRCm39)	Y589C	probably damaging	Het

Other mutations in Slc51b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1930:Slc51b	UTSW	9	65,322,478 (GRCm39)	missense	probably damaging	1.00
R3816:Slc51b	UTSW	9	65,321,300 (GRCm39)	unclassified	probably benign
R6745:Slc51b	UTSW	9	65,320,212 (GRCm39)	missense	possibly damaging	0.94
R8979:Slc51b	UTSW	9	65,320,210 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02