Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Slc35a3'

397948

Institutional Source

Beutler Lab

Gene Symbol

Slc35a3

Ensembl Gene

ENSMUSG00000027957

Gene Name

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

Synonyms

2310050P13Rik

MMRRC Submission

042766-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116463118-116506366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116474794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 199 (K199N)

Ref Sequence

ENSEMBL: ENSMUSP00000123641 (fasta)

Gene Model

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

AlphaFold

Q8R1T4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029569
AA Change: K199N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029569
Gene: ENSMUSG00000027957
AA Change: K199N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120120
AA Change: K199N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112674
Gene: ENSMUSG00000027957
AA Change: K199N

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

unknown
Transcript: ENSMUST00000140672
AA Change: K38N

SMART Domains

Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103
AA Change: K38N

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	2	129	2.4e-39	PFAM
Pfam:MFS_1	104	235	1e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153108
AA Change: K199N

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

SMART Domains

Protein: ENSMUSP00000123641
Gene: ENSMUSG00000027957
AA Change: K199N

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

noncoding transcript
Transcript: ENSMUST00000196331

Predicted Effect

probably benign
Transcript: ENSMUST00000196335

SMART Domains

Protein: ENSMUSP00000142374
Gene: ENSMUSG00000027957

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Adsl	A	G	15: 80,833,106 (GRCm39)		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Calm1	T	C	12: 100,166,472 (GRCm39)	S19P	probably benign	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,489,857 (GRCm39)	I184T	probably damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,464,050 (GRCm39)	N38K	probably benign	Het
Ermap	T	C	4: 119,043,015 (GRCm39)		probably null	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpain	A	G	11: 70,864,658 (GRCm39)	D115G	probably benign	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,291,514 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,231,992 (GRCm39)	I172N	probably damaging	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het

Other mutations in Slc35a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Slc35a3	APN	3	116,488,262 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGAAAGACTTAGGGAGATCCAC -3'
(R):5'- GGTAGCTTACCTTCTGCTCAGG -3'

Sequencing Primer
(F):5'- TTTAAGATGCGGTCTCCCTATG -3'
(R):5'- CACAGACTCAGGTTGTCAATCTTGG -3'

Posted On

2016-07-06