Incidental Mutation 'IGL02815:Slc38a6'
ID360758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a6
Ensembl Gene ENSMUSG00000044712
Gene Namesolute carrier family 38, member 6
SynonymsEG625098
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02815
Quality Score
Status
Chromosome12
Chromosomal Location73286779-73354049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73292205 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 95 (H95Q)
Ref Sequence ENSEMBL: ENSMUSP00000114870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058139] [ENSMUST00000101313] [ENSMUST00000122920] [ENSMUST00000126488] [ENSMUST00000140523] [ENSMUST00000153941]
Predicted Effect probably damaging
Transcript: ENSMUST00000058139
AA Change: H95Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057153
Gene: ENSMUSG00000044712
AA Change: H95Q

DomainStartEndE-ValueType
Pfam:Aa_trans 44 122 9.5e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101313
AA Change: H40Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098871
Gene: ENSMUSG00000044712
AA Change: H40Q

DomainStartEndE-ValueType
Pfam:Aa_trans 1 69 4.3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122920
AA Change: H95Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124386
Gene: ENSMUSG00000044712
AA Change: H95Q

DomainStartEndE-ValueType
Pfam:Aa_trans 44 113 3.5e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126488
AA Change: H95Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118374
Gene: ENSMUSG00000044712
AA Change: H95Q

DomainStartEndE-ValueType
Pfam:Aa_trans 44 122 9.5e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140523
AA Change: H95Q

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712
AA Change: H95Q

DomainStartEndE-ValueType
Pfam:Aa_trans 44 452 2.5e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153941
AA Change: H95Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114870
Gene: ENSMUSG00000044712
AA Change: H95Q

DomainStartEndE-ValueType
Pfam:Aa_trans 44 124 1.6e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,964,795 I3F probably benign Het
Alms1 G A 6: 85,667,957 probably null Het
Ap3m1 T C 14: 21,036,682 D393G probably damaging Het
Arfgef3 T A 10: 18,652,551 I363F probably damaging Het
Col19a1 T A 1: 24,285,251 probably null Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnmt3a G A 12: 3,904,226 probably null Het
Emc2 T A 15: 43,507,930 probably benign Het
Epm2aip1 T C 9: 111,273,560 S534P probably benign Het
Farp2 A C 1: 93,560,285 N78T probably damaging Het
Fut8 T A 12: 77,365,083 N106K probably benign Het
Gc A G 5: 89,457,659 probably null Het
Gemin5 T C 11: 58,146,409 Y660C probably damaging Het
Gfpt2 T A 11: 49,823,257 D280E possibly damaging Het
Il16 T C 7: 83,651,041 E348G probably damaging Het
Ints1 G A 5: 139,755,282 T1874M probably damaging Het
Klrb1b A G 6: 128,820,974 L52P probably damaging Het
Lamb3 A T 1: 193,325,555 probably benign Het
Med17 A C 9: 15,262,267 M637R probably damaging Het
Myo18b A G 5: 112,809,735 L1454P probably damaging Het
Mysm1 A T 4: 94,957,048 probably null Het
Naip5 T C 13: 100,222,731 T666A probably benign Het
Nbas T A 12: 13,310,266 S348T probably damaging Het
Pex1 A T 5: 3,636,797 K1226M probably damaging Het
Pi4ka A G 16: 17,358,889 probably benign Het
Pigr T A 1: 130,841,821 V123D probably damaging Het
Pilra G A 5: 137,831,305 P163S probably benign Het
Plekha4 T C 7: 45,538,412 S303P probably damaging Het
Prrc2b A G 2: 32,204,253 E549G probably damaging Het
Ptchd3 C T 11: 121,841,604 S440L probably benign Het
Rock2 A G 12: 16,966,701 probably benign Het
Scn1a A G 2: 66,324,858 S586P probably damaging Het
Spata31d1d A T 13: 59,726,864 N952K possibly damaging Het
Stard10 T A 7: 101,343,998 C254S probably benign Het
Taar8a A T 10: 24,077,380 Y294F probably benign Het
Tm7sf3 A T 6: 146,613,473 probably null Het
Tnfrsf8 A T 4: 145,298,778 V75D possibly damaging Het
Tor1aip1 C T 1: 156,035,916 R107H probably damaging Het
Trpc4 C T 3: 54,299,274 probably benign Het
Unc13c A G 9: 73,540,263 L1885P possibly damaging Het
Vmn2r9 T C 5: 108,842,990 D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 I1172F probably damaging Het
Other mutations in Slc38a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Slc38a6 APN 12 73351803 missense probably benign 0.00
IGL01083:Slc38a6 APN 12 73288493 missense possibly damaging 0.94
IGL01302:Slc38a6 APN 12 73288525 critical splice donor site probably null
IGL02106:Slc38a6 APN 12 73350546 missense possibly damaging 0.84
IGL02429:Slc38a6 APN 12 73350568 missense probably benign 0.18
IGL03001:Slc38a6 APN 12 73337053 missense probably benign 0.03
IGL03167:Slc38a6 APN 12 73350537 nonsense probably null
R0394:Slc38a6 UTSW 12 73352530 missense probably benign
R0918:Slc38a6 UTSW 12 73344785 splice site probably null
R1377:Slc38a6 UTSW 12 73350571 missense probably damaging 0.98
R1533:Slc38a6 UTSW 12 73344852 missense probably benign 0.11
R4171:Slc38a6 UTSW 12 73350552 missense probably benign 0.21
R4579:Slc38a6 UTSW 12 73288524 critical splice donor site probably null
R4864:Slc38a6 UTSW 12 73343650 intron probably null
R5162:Slc38a6 UTSW 12 73329985 missense possibly damaging 0.70
R5627:Slc38a6 UTSW 12 73343683 missense possibly damaging 0.59
R6189:Slc38a6 UTSW 12 73310196 missense probably damaging 1.00
R6302:Slc38a6 UTSW 12 73337075 missense probably damaging 1.00
R6407:Slc38a6 UTSW 12 73310175 missense probably damaging 1.00
R7289:Slc38a6 UTSW 12 73287012 missense probably benign
R7462:Slc38a6 UTSW 12 73350577 missense probably benign 0.15
R8031:Slc38a6 UTSW 12 73350603 missense probably benign 0.39
R8074:Slc38a6 UTSW 12 73344884 missense possibly damaging 0.84
Posted On2015-12-18