Incidental Mutation 'IGL02377:Slc35g1'
ID291181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35g1
Ensembl Gene ENSMUSG00000044026
Gene Namesolute carrier family 35, member G1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02377
Quality Score
Status
Chromosome19
Chromosomal Location38395980-38405607 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 38403230 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 320 (M320K)
Ref Sequence ENSEMBL: ENSMUSP00000061282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054098]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054098
AA Change: M320K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061282
Gene: ENSMUSG00000044026
AA Change: M320K

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:EamA 72 205 2.3e-20 PFAM
Pfam:SLC35F 72 280 3.9e-7 PFAM
Pfam:EamA 225 360 3.3e-9 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 transmembrane protein which is a member of the drug/metabolite transporter protein superfamily. The encoded protein may play a role in the regulation of calcium levels inside the cell. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578C19Rik T A X: 18,447,691 I131F possibly damaging Het
4931423N10Rik T C 2: 23,212,655 probably benign Het
Aatk A T 11: 120,046,863 probably benign Het
Abca15 T C 7: 120,365,910 probably benign Het
App T C 16: 85,082,831 Q138R probably benign Het
Asah2 T A 19: 32,009,414 I529F probably benign Het
Atp8b3 A G 10: 80,520,294 S1195P probably benign Het
Brca1 A G 11: 101,524,323 M134T probably benign Het
Cacna1s T C 1: 136,068,994 L111P probably damaging Het
Capns2 A T 8: 92,901,587 N35Y probably benign Het
Ccne1 A G 7: 38,098,990 probably null Het
Csf1r G T 18: 61,124,468 probably benign Het
Dlg3 A T X: 100,773,401 Y326F possibly damaging Het
Dnah8 T C 17: 30,794,796 V3837A probably damaging Het
Dock10 A G 1: 80,584,994 probably null Het
Emg1 A G 6: 124,704,657 V208A probably benign Het
Eml6 T A 11: 29,777,282 D1280V probably damaging Het
Ep400 T C 5: 110,720,825 D911G unknown Het
Fam171a1 T C 2: 3,223,586 probably null Het
Fcgbp T C 7: 28,106,970 V2121A possibly damaging Het
Fggy G A 4: 95,623,477 probably benign Het
Fignl1 G T 11: 11,802,845 T70K possibly damaging Het
Fndc3b T C 3: 27,620,652 E47G probably damaging Het
Frmd4a A G 2: 4,534,574 K189E possibly damaging Het
Hpse T A 5: 100,691,333 Y383F probably damaging Het
Ip6k2 T C 9: 108,804,599 L197P probably damaging Het
Klf1 A C 8: 84,904,932 H375P probably damaging Het
Krtap6-5 T A 16: 89,047,846 probably benign Het
Lacc1 A T 14: 77,029,615 S403T probably damaging Het
Lama3 A G 18: 12,556,750 I2850V possibly damaging Het
Lats2 C T 14: 57,691,595 R941Q probably damaging Het
Lgals3bp A T 11: 118,393,464 Y430N probably benign Het
Lrig3 A T 10: 126,014,874 H1103L probably benign Het
Lrrc40 G A 3: 158,036,728 M1I probably null Het
Maats1 G T 16: 38,332,819 probably benign Het
Magee2 A T X: 104,856,793 V84D possibly damaging Het
Msantd2 G A 9: 37,523,306 V281I possibly damaging Het
Mycbpap A G 11: 94,503,250 V340A probably damaging Het
Myh6 A T 14: 54,944,318 M1842K probably benign Het
Mylk4 T C 13: 32,722,147 D145G possibly damaging Het
Nfkbid C T 7: 30,425,264 Q160* probably null Het
Olfr1133 T A 2: 87,645,286 Y279F probably damaging Het
Olfr1389 A T 11: 49,431,032 K185N probably damaging Het
Olfr1497 T G 19: 13,795,329 Q94P possibly damaging Het
Olfr251 A T 9: 38,378,246 T122S probably damaging Het
Olfr745 T A 14: 50,642,518 probably null Het
Olfr859 C T 9: 19,809,047 S243F probably damaging Het
Pdgfrb A C 18: 61,080,332 Q916P probably damaging Het
Pex14 T C 4: 148,966,286 Q174R probably benign Het
Pogz T C 3: 94,879,010 S970P probably damaging Het
Rabggta A G 14: 55,718,495 V165A possibly damaging Het
Rdh10 G A 1: 16,106,214 W66* probably null Het
Ripor2 T A 13: 24,695,566 probably benign Het
Slc9a7 A G X: 20,202,724 Y197H probably damaging Het
Smn1 T C 13: 100,135,684 probably benign Het
Spam1 G A 6: 24,796,697 G216S probably damaging Het
Spata31 A T 13: 64,920,380 N114I probably damaging Het
Sptbn1 A T 11: 30,119,491 V1615D possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc2 T A X: 41,825,478 Q1005H possibly damaging Het
Thra G A 11: 98,761,916 R189Q probably damaging Het
Trappc11 A T 8: 47,530,650 probably null Het
Vps13d G T 4: 145,156,364 H886Q probably damaging Het
Zfp157 G A 5: 138,447,597 W71* probably null Het
Other mutations in Slc35g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Slc35g1 APN 19 38403194 missense probably damaging 1.00
IGL02322:Slc35g1 APN 19 38400565 nonsense probably null
R1464:Slc35g1 UTSW 19 38403217 missense probably benign 0.01
R1464:Slc35g1 UTSW 19 38403217 missense probably benign 0.01
R2119:Slc35g1 UTSW 19 38403287 missense probably benign 0.05
R4814:Slc35g1 UTSW 19 38402827 missense possibly damaging 0.58
R5229:Slc35g1 UTSW 19 38402632 splice site probably null
R7176:Slc35g1 UTSW 19 38403323 missense probably damaging 1.00
R7707:Slc35g1 UTSW 19 38403123 nonsense probably null
Posted On2015-04-16