Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03151:Slc35b1'

411112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35b1

Ensembl Gene

ENSMUSG00000020873

Gene Name

solute carrier family 35, member B1

Synonyms

Ugalt2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.946) question?

Stock #

IGL03151

Quality Score

Status

Chromosome

Chromosomal Location

95384692-95391776 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 95390386 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021243] [ENSMUST00000021243] [ENSMUST00000131193] [ENSMUST00000146556] [ENSMUST00000232252]

Predicted Effect

probably null
Transcript: ENSMUST00000021243

SMART Domains

Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873

Domain	Start	End	E-Value	Type
Pfam:TPT	12	309	1.3e-14	PFAM
Pfam:UAA	13	313	2.1e-58	PFAM
Pfam:EamA	170	309	1.9e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000021243

SMART Domains

Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873

Domain	Start	End	E-Value	Type
Pfam:TPT	12	309	1.3e-14	PFAM
Pfam:UAA	13	313	2.1e-58	PFAM
Pfam:EamA	170	309	1.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131193

SMART Domains

Protein: ENSMUSP00000125307
Gene: ENSMUSG00000020873

Domain	Start	End	E-Value	Type
Pfam:UAA	14	91	5.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143090

Predicted Effect

probably benign
Transcript: ENSMUST00000146556

SMART Domains

Protein: ENSMUSP00000125597
Gene: ENSMUSG00000020873

Domain	Start	End	E-Value	Type
low complexity region	14	23	N/A	INTRINSIC
Pfam:EmrE	38	149	3.9e-9	PFAM
Pfam:UAA	46	153	4.5e-30	PFAM
Pfam:EamA	63	146	1.4e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000232252

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	G	6: 40,926,012	F142S	probably damaging	Het
Acot1	G	A	12: 84,014,552	A211T	probably damaging	Het
Ampd1	T	C	3: 103,092,470		probably null	Het
Armc3	T	G	2: 19,238,698	L75R	probably damaging	Het
Atp9b	T	C	18: 80,776,850	D573G	probably benign	Het
Baz1a	T	A	12: 54,909,149		probably null	Het
BC037034	A	G	5: 138,262,672	L237S	possibly damaging	Het
C1ra	A	T	6: 124,519,771	I389F	probably benign	Het
Ccdc87	T	A	19: 4,841,557	N692K	probably benign	Het
Ccr9	A	G	9: 123,774,573		probably benign	Het
Ces4a	G	T	8: 105,148,197		probably null	Het
Dazap1	G	A	10: 80,280,920		probably benign	Het
Dock5	A	G	14: 67,866,067	Y45H	probably damaging	Het
Eloa	A	T	4: 136,010,421	Y409*	probably null	Het
Fam170a	A	G	18: 50,281,641	E118G	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Glra1	C	T	11: 55,527,380	V180I	probably damaging	Het
Il17rb	T	C	14: 30,006,853	T28A	probably benign	Het
Ints9	T	A	14: 65,032,340	V493E	possibly damaging	Het
Kcnq5	C	T	1: 21,535,069	C204Y	probably damaging	Het
Npc1	A	T	18: 12,219,275	N122K	probably benign	Het
Olfr124	G	A	17: 37,805,268	G41D	probably damaging	Het
Podnl1	G	A	8: 84,132,189	V548I	probably benign	Het
Prss21	A	G	17: 23,869,402	T114A	probably damaging	Het
Rab10	G	A	12: 3,249,812	T193M	probably benign	Het
Serpini1	T	A	3: 75,613,296	S67T	probably benign	Het
Sorbs2	A	T	8: 45,799,713	H388L	probably benign	Het
Tfap2c	T	A	2: 172,557,190	C427*	probably null	Het
Ttn	G	T	2: 76,802,388	F14107L	probably damaging	Het
Upf1	G	T	8: 70,335,387	T774K	probably damaging	Het
Vmn1r170	G	A	7: 23,606,577	V135M	probably benign	Het
Vmn2r14	C	T	5: 109,216,394	C552Y	probably damaging	Het
Zfp367	A	G	13: 64,145,631	I147T	probably damaging	Het
Zfp952	T	C	17: 33,003,008	S116P	probably benign	Het

Other mutations in Slc35b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Slc35b1	APN	11	95389084	missense	probably benign	0.01
R0026:Slc35b1	UTSW	11	95390642	missense	probably benign
R0026:Slc35b1	UTSW	11	95390642	missense	probably benign
R0125:Slc35b1	UTSW	11	95386527	missense	probably benign	0.01
R1331:Slc35b1	UTSW	11	95385863	missense	probably damaging	1.00
R2061:Slc35b1	UTSW	11	95385892	missense	possibly damaging	0.72
R2192:Slc35b1	UTSW	11	95385814	missense	probably damaging	1.00
R5283:Slc35b1	UTSW	11	95384988	start gained	probably benign
R5484:Slc35b1	UTSW	11	95387805	missense	probably damaging	1.00
R7620:Slc35b1	UTSW	11	95387865	missense	probably damaging	1.00
R8678:Slc35b1	UTSW	11	95387820	missense	probably damaging	1.00

Posted On

2016-08-02