Incidental Mutation 'IGL02244:Slc35e2'
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ID286115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35e2
Ensembl Gene ENSMUSG00000042202
Gene Namesolute carrier family 35, member E2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02244
Quality Score
Status
Chromosome4
Chromosomal Location155601416-155623340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 155618562 bp
ZygosityHeterozygous
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]
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: ENSMUST00000151425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154931
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Araf A G X: 20,853,596 probably benign Het
Armc3 G A 2: 19,286,137 probably null Het
Armc8 A T 9: 99,483,174 D638E probably benign Het
Bpifb5 C T 2: 154,225,148 T107I possibly damaging Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Col4a5 A G X: 141,599,673 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Kctd12b T A X: 153,689,334 M120L probably benign Het
Krt33b A G 11: 100,025,363 V258A probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sh3kbp1 C T X: 159,803,728 R99W probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Txlnb T A 10: 17,843,368 V649E probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Slc35e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Slc35e2 APN 4 155612730 missense probably benign
R1774:Slc35e2 UTSW 4 155610164 missense possibly damaging 0.51
R1856:Slc35e2 UTSW 4 155611729 missense probably damaging 1.00
R4600:Slc35e2 UTSW 4 155617649 missense probably benign 0.04
R4601:Slc35e2 UTSW 4 155617649 missense probably benign 0.04
R4603:Slc35e2 UTSW 4 155617649 missense probably benign 0.04
R4610:Slc35e2 UTSW 4 155617649 missense probably benign 0.04
R4917:Slc35e2 UTSW 4 155616236 missense probably damaging 1.00
R4918:Slc35e2 UTSW 4 155616236 missense probably damaging 1.00
R5440:Slc35e2 UTSW 4 155610026 missense probably benign
R5468:Slc35e2 UTSW 4 155610026 missense probably benign
R5469:Slc35e2 UTSW 4 155610026 missense probably benign
R5470:Slc35e2 UTSW 4 155610026 missense probably benign
R5512:Slc35e2 UTSW 4 155610026 missense probably benign
R5513:Slc35e2 UTSW 4 155610026 missense probably benign
R5514:Slc35e2 UTSW 4 155610026 missense probably benign
R5689:Slc35e2 UTSW 4 155610026 missense probably benign
R5692:Slc35e2 UTSW 4 155610026 missense probably benign
R5711:Slc35e2 UTSW 4 155610026 missense probably benign
R5714:Slc35e2 UTSW 4 155610026 missense probably benign
R5799:Slc35e2 UTSW 4 155610026 missense probably benign
R5872:Slc35e2 UTSW 4 155612680 missense probably damaging 1.00
R5925:Slc35e2 UTSW 4 155611627 missense probably damaging 1.00
R5947:Slc35e2 UTSW 4 155611714 missense possibly damaging 0.70
R6044:Slc35e2 UTSW 4 155610026 missense probably benign
R6063:Slc35e2 UTSW 4 155610026 missense probably benign
R6065:Slc35e2 UTSW 4 155610026 missense probably benign
R6066:Slc35e2 UTSW 4 155610026 missense probably benign
R6188:Slc35e2 UTSW 4 155610026 missense probably benign
R6243:Slc35e2 UTSW 4 155610026 missense probably benign
R6273:Slc35e2 UTSW 4 155610026 missense probably benign
R6484:Slc35e2 UTSW 4 155612647 missense probably damaging 0.99
R6867:Slc35e2 UTSW 4 155618700 missense probably benign 0.00
R7143:Slc35e2 UTSW 4 155618594 missense probably benign 0.01
R7384:Slc35e2 UTSW 4 155610632 missense probably benign 0.01
Posted On2015-04-16