Incidental Mutation 'IGL02244:Slc35e2'
ID 286115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35e2
Ensembl Gene ENSMUSG00000042202
Gene Name solute carrier family 35, member E2
Synonyms A530082C11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02244
Quality Score
Status
Chromosome 4
Chromosomal Location 155685873-155707797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155703019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 344 (V344D)
Ref Sequence ENSEMBL: ENSMUSP00000113189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043829] [ENSMUST00000105608] [ENSMUST00000115821] [ENSMUST00000118607]
AlphaFold Q8C811
Predicted Effect probably damaging
Transcript: ENSMUST00000043829
AA Change: V344D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041449
Gene: ENSMUSG00000042202
AA Change: V344D

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 50 66 N/A INTRINSIC
Pfam:TPT 73 368 7.9e-93 PFAM
Pfam:UAA 74 371 1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105608
AA Change: V344D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101233
Gene: ENSMUSG00000042202
AA Change: V344D

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 50 66 N/A INTRINSIC
Pfam:UAA 75 375 6.9e-10 PFAM
Pfam:EamA 84 215 5.8e-8 PFAM
Pfam:TPT 224 369 3.8e-34 PFAM
Pfam:EamA 237 369 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115821
SMART Domains Protein: ENSMUSP00000111488
Gene: ENSMUSG00000073682

DomainStartEndE-ValueType
SCOP:d1l9ha_ 17 52 2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118607
AA Change: V344D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113189
Gene: ENSMUSG00000042202
AA Change: V344D

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 50 66 N/A INTRINSIC
Pfam:UAA 75 375 6.9e-10 PFAM
Pfam:EamA 84 215 5.8e-8 PFAM
Pfam:TPT 224 369 3.8e-34 PFAM
Pfam:EamA 237 369 3.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151425
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly damaging Het
Other mutations in Slc35e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Slc35e2 APN 4 155,697,187 (GRCm39) missense probably benign
R1774:Slc35e2 UTSW 4 155,694,621 (GRCm39) missense possibly damaging 0.51
R1856:Slc35e2 UTSW 4 155,696,186 (GRCm39) missense probably damaging 1.00
R4600:Slc35e2 UTSW 4 155,702,106 (GRCm39) missense probably benign 0.04
R4601:Slc35e2 UTSW 4 155,702,106 (GRCm39) missense probably benign 0.04
R4603:Slc35e2 UTSW 4 155,702,106 (GRCm39) missense probably benign 0.04
R4610:Slc35e2 UTSW 4 155,702,106 (GRCm39) missense probably benign 0.04
R4917:Slc35e2 UTSW 4 155,700,693 (GRCm39) missense probably damaging 1.00
R4918:Slc35e2 UTSW 4 155,700,693 (GRCm39) missense probably damaging 1.00
R5440:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5468:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5469:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5470:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5512:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5513:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5514:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5689:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5692:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5711:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5714:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5799:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R5872:Slc35e2 UTSW 4 155,697,137 (GRCm39) missense probably damaging 1.00
R5925:Slc35e2 UTSW 4 155,696,084 (GRCm39) missense probably damaging 1.00
R5947:Slc35e2 UTSW 4 155,696,171 (GRCm39) missense possibly damaging 0.70
R6044:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6063:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6065:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6066:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6188:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6243:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6273:Slc35e2 UTSW 4 155,694,483 (GRCm39) missense probably benign
R6484:Slc35e2 UTSW 4 155,697,104 (GRCm39) missense probably damaging 0.99
R6867:Slc35e2 UTSW 4 155,703,157 (GRCm39) missense probably benign 0.00
R7143:Slc35e2 UTSW 4 155,703,051 (GRCm39) missense probably benign 0.01
R7384:Slc35e2 UTSW 4 155,695,089 (GRCm39) missense probably benign 0.01
R8463:Slc35e2 UTSW 4 155,694,615 (GRCm39) missense probably damaging 1.00
R8737:Slc35e2 UTSW 4 155,695,042 (GRCm39) missense probably benign 0.01
R8940:Slc35e2 UTSW 4 155,694,542 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16