Incidental Mutation 'R2137:Slc35c2'
ID235862
Institutional Source Beutler Lab
Gene Symbol Slc35c2
Ensembl Gene ENSMUSG00000017664
Gene Namesolute carrier family 35, member C2
SynonymsCGI-15, Ovcov1, D2Wsu58e
MMRRC Submission 040140-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2137 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location165276554-165287869 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 165281379 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 113 (Y113H)
Ref Sequence ENSEMBL: ENSMUSP00000116288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017808] [ENSMUST00000109298] [ENSMUST00000109299] [ENSMUST00000109300] [ENSMUST00000129210] [ENSMUST00000129336] [ENSMUST00000130393] [ENSMUST00000131409] [ENSMUST00000132270] [ENSMUST00000133961] [ENSMUST00000145301] [ENSMUST00000155289] [ENSMUST00000156134]
Predicted Effect probably damaging
Transcript: ENSMUST00000017808
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017808
Gene: ENSMUSG00000017664
AA Change: Y113H

DomainStartEndE-ValueType
Pfam:UAA 15 320 3.5e-10 PFAM
Pfam:TPT 165 315 6.9e-37 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109298
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104921
Gene: ENSMUSG00000017664
AA Change: Y113H

DomainStartEndE-ValueType
Pfam:UAA 15 320 3.5e-10 PFAM
Pfam:TPT 165 315 6.9e-37 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109299
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104922
Gene: ENSMUSG00000017664
AA Change: Y113H

DomainStartEndE-ValueType
Pfam:UAA 15 320 3.5e-10 PFAM
Pfam:TPT 165 315 6.9e-37 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109300
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104923
Gene: ENSMUSG00000017664
AA Change: Y113H

DomainStartEndE-ValueType
Pfam:TPT 15 314 2.7e-27 PFAM
Pfam:EamA 164 315 1.6e-8 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125550
Predicted Effect probably damaging
Transcript: ENSMUST00000129210
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118605
Gene: ENSMUSG00000017664
AA Change: Y113H

DomainStartEndE-ValueType
Pfam:UAA 15 162 1.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129336
SMART Domains Protein: ENSMUSP00000123299
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130393
SMART Domains Protein: ENSMUSP00000123450
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131409
SMART Domains Protein: ENSMUSP00000120036
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132270
SMART Domains Protein: ENSMUSP00000125708
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133961
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118227
Gene: ENSMUSG00000017664
AA Change: Y113H

DomainStartEndE-ValueType
Pfam:UAA 15 188 9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145301
SMART Domains Protein: ENSMUSP00000123757
Gene: ENSMUSG00000017664

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154608
Predicted Effect probably damaging
Transcript: ENSMUST00000155289
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119071
Gene: ENSMUSG00000017664
AA Change: Y113H

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
transmembrane domain 41 63 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
Pfam:TPT 144 199 1.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156134
AA Change: Y113H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116288
Gene: ENSMUSG00000017664
AA Change: Y113H

DomainStartEndE-ValueType
Pfam:UAA 15 188 9e-9 PFAM
Meta Mutation Damage Score 0.8156 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 C T 10: 81,646,309 T88I probably damaging Het
Atm A T 9: 53,453,375 V49D probably damaging Het
Bub1b G T 2: 118,636,718 E841* probably null Het
Ccdc129 A G 6: 55,889,189 Q189R probably damaging Het
Cdh22 G A 2: 165,116,394 probably benign Het
Cdh7 A T 1: 110,100,106 N527I probably damaging Het
Cog1 T C 11: 113,659,301 L262P probably damaging Het
Col22a1 T C 15: 72,006,948 H120R possibly damaging Het
Col4a2 T C 8: 11,433,749 S890P probably benign Het
Cubn T C 2: 13,336,167 I2248V probably benign Het
Evpl T C 11: 116,221,839 E1675G probably damaging Het
Faiml G A 9: 99,232,492 P115S probably benign Het
Fgg A T 3: 83,008,438 D62V possibly damaging Het
Gak C T 5: 108,606,877 probably null Het
Galntl6 C T 8: 58,535,905 probably null Het
Glyr1 T C 16: 5,018,482 Y501C probably benign Het
Gm9847 G T 12: 14,495,081 noncoding transcript Het
Gria4 T G 9: 4,427,026 probably benign Het
Il1f8 A G 2: 24,154,660 N24S probably benign Het
Il6st C A 13: 112,502,858 H606N possibly damaging Het
Kctd10 A G 5: 114,367,328 F202L probably damaging Het
Kif17 T A 4: 138,262,667 D55E probably damaging Het
Klf1 C T 8: 84,903,146 A200V possibly damaging Het
Klhl32 A T 4: 24,629,275 Y497* probably null Het
Kng2 G T 16: 22,997,326 probably benign Het
Lats1 T C 10: 7,701,847 V245A possibly damaging Het
Mbd3l2 A T 9: 18,444,958 D193V probably damaging Het
Ms4a18 A T 19: 10,997,331 V332D possibly damaging Het
Mss51 T C 14: 20,487,523 I47V probably benign Het
Myoz2 G A 3: 123,034,212 T19M probably benign Het
Nampt T A 12: 32,830,310 N67K probably benign Het
Ncor2 A T 5: 125,030,712 I1607K probably damaging Het
Nudt4 T C 10: 95,563,738 Q7R probably damaging Het
Olfr1475 A G 19: 13,479,809 Y130H probably damaging Het
Olfr1480 T A 19: 13,530,438 I255N probably damaging Het
Olfr870 T A 9: 20,171,167 I135F probably damaging Het
Pgm1 A T 5: 64,116,366 M565L probably benign Het
Phactr1 T G 13: 43,135,175 F639V possibly damaging Het
Plod3 C A 5: 136,988,717 R165S probably damaging Het
Polr2b T A 5: 77,320,346 N164K probably benign Het
Rcbtb2 G A 14: 73,162,051 G52S probably damaging Het
Rfc1 A G 5: 65,311,039 probably null Het
Rheb A G 5: 24,807,603 probably null Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Ripor2 G A 13: 24,721,834 probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Het
Scg3 A T 9: 75,676,810 D136E probably damaging Het
Slc10a4 C T 5: 73,007,580 L172F probably damaging Het
Slc47a1 T A 11: 61,344,492 D505V probably benign Het
Snap29 C A 16: 17,428,249 D244E possibly damaging Het
Taar1 T C 10: 23,921,270 F289L probably benign Het
Thbs2 T A 17: 14,673,306 N871Y probably damaging Het
Tmem108 T A 9: 103,499,963 T96S possibly damaging Het
Tnk2 G T 16: 32,670,802 probably null Het
Trak1 T A 9: 121,472,962 M928K possibly damaging Het
Tuba3b A G 6: 145,618,833 I110V probably benign Het
Tyk2 A G 9: 21,110,985 probably benign Het
Ugt1a9 T A 1: 88,071,037 C70S probably benign Het
Vmn2r10 A T 5: 109,003,544 I68K possibly damaging Het
Wfs1 T C 5: 36,967,501 E682G probably damaging Het
Zfp213 T C 17: 23,559,507 probably null Het
Zfp809 T C 9: 22,235,138 V41A probably benign Het
Zfp831 A G 2: 174,705,746 K1574R possibly damaging Het
Other mutations in Slc35c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Slc35c2 APN 2 165282881 missense probably damaging 1.00
IGL02680:Slc35c2 APN 2 165282135 missense probably damaging 1.00
PIT1430001:Slc35c2 UTSW 2 165277532 missense probably benign 0.27
R0239:Slc35c2 UTSW 2 165280837 missense probably damaging 1.00
R0239:Slc35c2 UTSW 2 165280837 missense probably damaging 1.00
R0399:Slc35c2 UTSW 2 165280895 nonsense probably null
R0496:Slc35c2 UTSW 2 165280815 missense probably damaging 1.00
R0627:Slc35c2 UTSW 2 165282136 missense possibly damaging 0.91
R0631:Slc35c2 UTSW 2 165280929 missense probably damaging 1.00
R1865:Slc35c2 UTSW 2 165278383 missense probably benign 0.03
R6237:Slc35c2 UTSW 2 165280697 missense probably damaging 1.00
R6873:Slc35c2 UTSW 2 165282809 missense possibly damaging 0.85
X0060:Slc35c2 UTSW 2 165277541 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGCCAAACCCGTTTCTAAAC -3'
(R):5'- TGTCTCACGTCAGAGAGTGC -3'

Sequencing Primer
(F):5'- AAACCCGTTTCTAAACCTTCAGTC -3'
(R):5'- CCGAGTCAGCTTGGTGTTAAAC -3'
Posted On2014-10-01