Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01667:Slc35b4'

103351

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

34153380-34177111 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34167675 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 82 (Y82H)

Ref Sequence

ENSEMBL: ENSMUSP00000019143 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019143
AA Change: Y82H

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019143
Gene: ENSMUSG00000018999
AA Change: Y82H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146514

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,570,019	T57A	probably damaging	Het
Akna	G	T	4: 63,379,159	T886N	probably benign	Het
Aqp9	A	G	9: 71,138,213	V38A	probably benign	Het
Awat2	C	T	X: 100,404,254	G124D	probably damaging	Het
Camsap1	A	G	2: 25,945,281		probably benign	Het
Catsperg2	T	C	7: 29,710,133	Y545C	probably damaging	Het
Cldn23	A	G	8: 35,825,920	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,952,860		probably benign	Het
Dlgap3	C	A	4: 127,233,897	T786K	probably benign	Het
Dnah2	A	C	11: 69,544,395	S50A	probably benign	Het
Dnah2	A	T	11: 69,520,941	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,547,292	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,756,754	P115L	probably damaging	Het
Fzd2	G	T	11: 102,605,782	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,736,637	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,177,518	I46S	probably damaging	Het
Gm5581	T	C	6: 131,167,772		noncoding transcript	Het
Krt2	C	A	15: 101,816,330	V282L	possibly damaging	Het
Myh15	G	A	16: 49,195,579	V1873M	probably benign	Het
Myo1b	T	C	1: 51,760,377	T931A	probably damaging	Het
Myo6	A	T	9: 80,289,893	K965N	unknown	Het
Olfr1441	T	C	19: 12,422,756	V149A	probably benign	Het
Pcnx3	T	C	19: 5,686,630	R160G	probably benign	Het
Slc22a16	T	C	10: 40,585,018	I272T	probably damaging	Het
Spdya	T	C	17: 71,556,259	M1T	probably null	Het
St6gal1	A	G	16: 23,321,424	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,914,300		probably benign	Het
Tfrc	A	G	16: 32,624,443		probably benign	Het
Trip11	A	C	12: 101,878,862	F1539C	probably damaging	Het
Ttn	A	T	2: 76,781,078	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,577,800	M206L	probably benign	Het
Zfp362	A	G	4: 128,787,109	L141P	probably damaging	Het
Zfp692	A	G	11: 58,311,553	H378R	probably damaging	Het
Zfp799	T	C	17: 32,821,820	Q52R	possibly damaging	Het

Other mutations in Slc35b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01646:Slc35b4	APN	6	34158429	missense	probably benign	0.03
IGL01670:Slc35b4	APN	6	34170549	missense	probably benign	0.00
IGL02015:Slc35b4	APN	6	34170548	missense	probably damaging	1.00
IGL02710:Slc35b4	APN	6	34158541	missense	probably benign	0.02
IGL03051:Slc35b4	APN	6	34160471	critical splice donor site	probably null
R0008:Slc35b4	UTSW	6	34158517	missense	probably damaging	1.00
R0008:Slc35b4	UTSW	6	34158517	missense	probably damaging	1.00
R1052:Slc35b4	UTSW	6	34161684	missense	probably damaging	1.00
R1304:Slc35b4	UTSW	6	34163365	nonsense	probably null
R1606:Slc35b4	UTSW	6	34158388	nonsense	probably null
R1713:Slc35b4	UTSW	6	34170549	missense	probably benign	0.00
R1872:Slc35b4	UTSW	6	34158505	nonsense	probably null
R5539:Slc35b4	UTSW	6	34176802	missense	probably damaging	0.99
R6954:Slc35b4	UTSW	6	34158621	missense	probably benign	0.02
R7339:Slc35b4	UTSW	6	34167656	missense	probably damaging	1.00
R7560:Slc35b4	UTSW	6	34163361	missense	probably benign	0.01

Posted On

2014-01-21