Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01670:Slc35b4'

103459

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35b4

Ensembl Gene

ENSMUSG00000018999

Gene Name

solute carrier family 35, member B4

Synonyms

4930474D06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01670

Quality Score

Status

Chromosome

Chromosomal Location

34132810-34153921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34147484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 35 (V35I)

Ref Sequence

ENSEMBL: ENSMUSP00000019143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019143] [ENSMUST00000138250]

AlphaFold

Q8CIA5

Predicted Effect

probably benign
Transcript: ENSMUST00000019143
AA Change: V35I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000019143
Gene: ENSMUSG00000018999
AA Change: V35I

Domain	Start	End	E-Value	Type
Pfam:UAA	2	314	1.7e-120	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126498

Predicted Effect

probably benign
Transcript: ENSMUST00000138250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145857

Meta Mutation Damage Score

0.0898

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	A	C	9: 106,314,006 (GRCm39)		probably benign	Het
Add1	C	A	5: 34,777,407 (GRCm39)	Q57K	probably damaging	Het
Alms1	A	G	6: 85,655,132 (GRCm39)	E3226G	probably benign	Het
Arl1	G	T	10: 88,577,884 (GRCm39)	R151L	probably damaging	Het
Cabs1	T	A	5: 88,127,869 (GRCm39)	D173E	possibly damaging	Het
Cdc34b	T	C	11: 94,632,845 (GRCm39)	L15P	probably benign	Het
Cdyl2	A	G	8: 117,351,092 (GRCm39)	V13A	probably damaging	Het
Chd7	G	T	4: 8,827,033 (GRCm39)	R1026L	probably damaging	Het
Cldn34b4	T	C	X: 75,441,195 (GRCm39)	S151P	probably damaging	Het
Col14a1	T	A	15: 55,192,662 (GRCm39)	I25N	unknown	Het
Crisp4	T	A	1: 18,198,901 (GRCm39)	T178S	probably benign	Het
Csmd2	C	T	4: 128,407,164 (GRCm39)		probably benign	Het
Csmd3	T	G	15: 47,475,225 (GRCm39)	N2454H	probably damaging	Het
Cytip	A	T	2: 58,023,785 (GRCm39)	I345N	probably damaging	Het
Frem2	A	T	3: 53,564,358 (GRCm39)	S50T	possibly damaging	Het
Gm9747	C	T	1: 82,211,870 (GRCm39)		probably benign	Het
Gpr37	A	G	6: 25,669,833 (GRCm39)	F337S	probably damaging	Het
Herc1	A	G	9: 66,394,342 (GRCm39)	E4182G	probably damaging	Het
Isyna1	C	T	8: 71,049,706 (GRCm39)	P511L	probably benign	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Larp7-ps	T	C	4: 92,079,737 (GRCm39)		probably null	Het
Mcm2	A	G	6: 88,864,614 (GRCm39)		probably benign	Het
Myl12a	T	C	17: 71,303,848 (GRCm39)	T10A	probably benign	Het
Nav3	A	G	10: 109,550,102 (GRCm39)	V1876A	possibly damaging	Het
Nkx6-1	T	A	5: 101,809,806 (GRCm39)	Q247L	probably benign	Het
Nol8	A	C	13: 49,814,784 (GRCm39)	K297N	possibly damaging	Het
Or4c119	T	A	2: 88,987,261 (GRCm39)	Y86F	probably benign	Het
Or51e1	A	T	7: 102,358,772 (GRCm39)	Q102L	probably damaging	Het
Or5w18	A	G	2: 87,633,224 (GRCm39)	T164A	probably benign	Het
Pard3b	A	T	1: 62,250,807 (GRCm39)	N579Y	probably damaging	Het
Pdcd11	T	A	19: 47,094,743 (GRCm39)	L509H	probably damaging	Het
Prss29	T	C	17: 25,541,437 (GRCm39)	S266P	probably benign	Het
Rapgef3	G	T	15: 97,647,543 (GRCm39)	H766N	probably benign	Het
Rasa1	A	T	13: 85,373,609 (GRCm39)	S818T	probably damaging	Het
Rtn4ip1	A	G	10: 43,804,322 (GRCm39)	M1V	probably null	Het
Sall1	A	T	8: 89,758,199 (GRCm39)	V635D	probably benign	Het
Slc5a11	G	A	7: 122,869,172 (GRCm39)	A587T	probably benign	Het
Slc6a21	T	C	7: 44,937,557 (GRCm39)	V616A	possibly damaging	Het
Sorl1	A	G	9: 41,912,788 (GRCm39)	S1398P	possibly damaging	Het
Srcap	A	G	7: 127,127,604 (GRCm39)	K390E	probably damaging	Het
Sycp2	C	T	2: 178,019,843 (GRCm39)	E558K	probably benign	Het
Tcf20	T	C	15: 82,739,564 (GRCm39)	N629S	possibly damaging	Het
Tmem154	A	G	3: 84,591,537 (GRCm39)	Y29C	probably damaging	Het
Tmtc3	A	G	10: 100,282,987 (GRCm39)	I856T	probably benign	Het
Zswim6	A	G	13: 107,865,101 (GRCm39)		noncoding transcript	Het

Other mutations in Slc35b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01646:Slc35b4	APN	6	34,135,364 (GRCm39)	missense	probably benign	0.03
IGL01667:Slc35b4	APN	6	34,144,610 (GRCm39)	missense	possibly damaging	0.81
IGL02015:Slc35b4	APN	6	34,147,483 (GRCm39)	missense	probably damaging	1.00
IGL02710:Slc35b4	APN	6	34,135,476 (GRCm39)	missense	probably benign	0.02
IGL03051:Slc35b4	APN	6	34,137,406 (GRCm39)	critical splice donor site	probably null
R0008:Slc35b4	UTSW	6	34,135,452 (GRCm39)	missense	probably damaging	1.00
R0008:Slc35b4	UTSW	6	34,135,452 (GRCm39)	missense	probably damaging	1.00
R1052:Slc35b4	UTSW	6	34,138,619 (GRCm39)	missense	probably damaging	1.00
R1304:Slc35b4	UTSW	6	34,140,300 (GRCm39)	nonsense	probably null
R1606:Slc35b4	UTSW	6	34,135,323 (GRCm39)	nonsense	probably null
R1713:Slc35b4	UTSW	6	34,147,484 (GRCm39)	missense	probably benign	0.00
R1872:Slc35b4	UTSW	6	34,135,440 (GRCm39)	nonsense	probably null
R5539:Slc35b4	UTSW	6	34,153,737 (GRCm39)	missense	probably damaging	0.99
R6954:Slc35b4	UTSW	6	34,135,556 (GRCm39)	missense	probably benign	0.02
R7339:Slc35b4	UTSW	6	34,144,591 (GRCm39)	missense	probably damaging	1.00
R7560:Slc35b4	UTSW	6	34,140,296 (GRCm39)	missense	probably benign	0.01
R8189:Slc35b4	UTSW	6	34,144,570 (GRCm39)	missense	probably damaging	1.00
R8987:Slc35b4	UTSW	6	34,137,442 (GRCm39)	missense	probably benign	0.29

Posted On

2014-01-21