Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01285:Slc35a3'

72701

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35a3

Ensembl Gene

ENSMUSG00000027957

Gene Name

solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3

Synonyms

2310050P13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL01285

Quality Score

Status

Chromosome

Chromosomal Location

116463118-116506366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116488262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 142 (S142P)

Ref Sequence

ENSEMBL: ENSMUSP00000127284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029569] [ENSMUST00000120120] [ENSMUST00000153108] [ENSMUST00000169530] [ENSMUST00000196335]

AlphaFold

Q8R1T4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029569
AA Change: S2P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029569
Gene: ENSMUSG00000027957
AA Change: S2P

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	1	314	2.3e-141	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120120
AA Change: S2P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112674
Gene: ENSMUSG00000027957
AA Change: S2P

Domain	Start	End	E-Value	Type
Pfam:UAA	13	320	1.4e-11	PFAM
Pfam:EamA	29	156	2.1e-8	PFAM
Pfam:TPT	38	154	1.2e-7	PFAM
Pfam:Nuc_sug_transp	68	306	6.3e-105	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131082

Predicted Effect

probably damaging
Transcript: ENSMUST00000153108
AA Change: S2P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123641
Gene: ENSMUSG00000027957
AA Change: S2P

Domain	Start	End	E-Value	Type
Pfam:UAA	10	209	1.6e-10	PFAM
Pfam:EamA	27	156	6.2e-9	PFAM
Pfam:TPT	37	154	3.2e-8	PFAM
Pfam:Nuc_sug_transp	68	212	1.6e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169530
AA Change: S142P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127284
Gene: ENSMUSG00000027957
AA Change: S142P

Domain	Start	End	E-Value	Type
low complexity region	24	44	N/A	INTRINSIC
low complexity region	89	134	N/A	INTRINSIC
transmembrane domain	143	162	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196335
AA Change: S2P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142374
Gene: ENSMUSG00000027957
AA Change: S2P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EamA	29	156	6.8e-7	PFAM
Pfam:TPT	34	154	1.6e-6	PFAM
Pfam:Nuc_sug_transp	68	167	5.9e-40	PFAM

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 UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,271,610 (GRCm39)	N599S	probably benign	Het
Adam6a	A	T	12: 113,509,893 (GRCm39)	*755Y	probably null	Het
Adgrb3	G	T	1: 25,132,868 (GRCm39)	T1166K	probably benign	Het
Ano1	T	C	7: 144,198,479 (GRCm39)	Y345C	probably benign	Het
Ano1	A	G	7: 144,149,275 (GRCm39)	V862A	probably damaging	Het
Asap2	C	T	12: 21,279,264 (GRCm39)	A382V	probably damaging	Het
Asb18	A	G	1: 89,923,963 (GRCm39)	V100A	probably benign	Het
Bdnf	G	A	2: 109,553,931 (GRCm39)	A102T	probably benign	Het
Ccser2	G	A	14: 36,660,626 (GRCm39)	T509M	probably damaging	Het
Cfap47	A	G	X: 78,532,764 (GRCm39)	I767T	possibly damaging	Het
Des	G	A	1: 75,339,227 (GRCm39)	A251T	probably benign	Het
Dmd	C	T	X: 84,153,590 (GRCm39)	Q3224*	probably null	Het
Endog	G	T	2: 30,061,975 (GRCm39)		probably null	Het
Ggt7	A	G	2: 155,342,691 (GRCm39)	V269A	probably damaging	Het
Gucy2c	A	G	6: 136,686,739 (GRCm39)	F808S	probably damaging	Het
Hira	A	G	16: 18,730,930 (GRCm39)	T210A	probably benign	Het
Ifitm5	C	A	7: 140,530,076 (GRCm39)	R16L	probably benign	Het
Igdcc4	T	C	9: 65,031,273 (GRCm39)	C404R	probably damaging	Het
Ints7	G	A	1: 191,347,890 (GRCm39)	R754H	probably benign	Het
Irf9	A	G	14: 55,845,058 (GRCm39)	E258G	probably damaging	Het
Megf11	T	C	9: 64,567,728 (GRCm39)	C406R	probably damaging	Het
Olfml1	A	G	7: 107,189,364 (GRCm39)	N143S	possibly damaging	Het
Or4m1	A	G	14: 50,557,713 (GRCm39)	F193S	possibly damaging	Het
Or6c66b	T	A	10: 129,376,711 (GRCm39)	F102I	probably benign	Het
Or7g30	A	G	9: 19,352,266 (GRCm39)	D19G	probably benign	Het
Otof	G	T	5: 30,562,527 (GRCm39)	Q254K	probably damaging	Het
Pate7	A	T	9: 35,688,044 (GRCm39)	N65K	possibly damaging	Het
Plcd3	A	G	11: 102,968,696 (GRCm39)	F332L	probably benign	Het
Plxnc1	T	C	10: 94,635,230 (GRCm39)	D1332G	probably damaging	Het
Rnasel	A	T	1: 153,634,130 (GRCm39)	D521V	probably benign	Het
Sema5a	T	A	15: 32,575,143 (GRCm39)	V417D	possibly damaging	Het
Senp6	G	A	9: 80,044,000 (GRCm39)	R877Q	probably benign	Het
Shroom2	A	T	X: 151,442,353 (GRCm39)	D937E	probably damaging	Het
Srpx	A	T	X: 9,905,298 (GRCm39)	V398E	probably damaging	Het
Stk10	A	T	11: 32,560,653 (GRCm39)	K669N	possibly damaging	Het
Sumf2	A	G	5: 129,878,811 (GRCm39)	D49G	probably damaging	Het
Syde1	T	A	10: 78,424,721 (GRCm39)	E370D	probably damaging	Het
Tas2r115	G	T	6: 132,714,641 (GRCm39)	S103R	probably damaging	Het
Top2a	G	A	11: 98,896,985 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,550,842 (GRCm39)	T23190S	probably damaging	Het
Ttyh3	C	A	5: 140,615,167 (GRCm39)	C407F	probably damaging	Het
Vmn2r27	G	T	6: 124,169,370 (GRCm39)	H587N	possibly damaging	Het
Vmn2r74	A	G	7: 85,606,692 (GRCm39)	I218T	possibly damaging	Het
Vsig10	A	G	5: 117,462,954 (GRCm39)	N60S	probably benign	Het
Zc3h7a	A	G	16: 10,956,979 (GRCm39)	S877P	probably damaging	Het
Zfp979	G	T	4: 147,699,853 (GRCm39)	T29N	probably damaging	Het
Znfx1	G	A	2: 166,880,615 (GRCm39)	R390C	possibly damaging	Het

Other mutations in Slc35a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02092:Slc35a3	APN	3	116,474,781 (GRCm39)	missense	probably damaging	1.00
IGL02424:Slc35a3	APN	3	116,488,267 (GRCm39)	missense	possibly damaging	0.92
IGL03304:Slc35a3	APN	3	116,480,960 (GRCm39)	missense	probably damaging	1.00
R1465:Slc35a3	UTSW	3	116,480,983 (GRCm39)	missense	probably benign	0.44
R1465:Slc35a3	UTSW	3	116,480,983 (GRCm39)	missense	probably benign	0.44
R1753:Slc35a3	UTSW	3	116,471,597 (GRCm39)	missense	possibly damaging	0.79
R2035:Slc35a3	UTSW	3	116,480,972 (GRCm39)	missense	probably damaging	1.00
R2265:Slc35a3	UTSW	3	116,467,285 (GRCm39)	missense	possibly damaging	0.87
R2266:Slc35a3	UTSW	3	116,467,285 (GRCm39)	missense	possibly damaging	0.87
R2267:Slc35a3	UTSW	3	116,467,285 (GRCm39)	missense	possibly damaging	0.87
R2268:Slc35a3	UTSW	3	116,467,285 (GRCm39)	missense	possibly damaging	0.87
R4073:Slc35a3	UTSW	3	116,468,887 (GRCm39)	missense	probably benign	0.05
R5187:Slc35a3	UTSW	3	116,474,794 (GRCm39)	missense	probably damaging	1.00
R5490:Slc35a3	UTSW	3	116,474,839 (GRCm39)	nonsense	probably null
R6841:Slc35a3	UTSW	3	116,506,417 (GRCm39)	missense	probably null
R7270:Slc35a3	UTSW	3	116,505,455 (GRCm39)	intron	probably benign
R7964:Slc35a3	UTSW	3	116,480,984 (GRCm39)	missense	possibly damaging	0.56
R8747:Slc35a3	UTSW	3	116,488,219 (GRCm39)	missense	probably damaging	1.00
R9556:Slc35a3	UTSW	3	116,474,763 (GRCm39)	missense	possibly damaging	0.63

Posted On

2013-10-07