Incidental Mutation 'IGL00228:Slc38a10'
ID 2198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a10
Ensembl Gene ENSMUSG00000061306
Gene Name solute carrier family 38, member 10
Synonyms 1810073N04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00228
Quality Score
Status
Chromosome 11
Chromosomal Location 119994786-120042172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120029814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 167 (V167M)
Ref Sequence ENSEMBL: ENSMUSP00000099307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045402] [ENSMUST00000053692] [ENSMUST00000076697] [ENSMUST00000103018] [ENSMUST00000179094]
AlphaFold Q5I012
Predicted Effect probably damaging
Transcript: ENSMUST00000045402
AA Change: V167M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: V167M

DomainStartEndE-ValueType
Pfam:Aa_trans 4 398 1.5e-54 PFAM
low complexity region 546 563 N/A INTRINSIC
low complexity region 654 667 N/A INTRINSIC
coiled coil region 699 735 N/A INTRINSIC
low complexity region 827 837 N/A INTRINSIC
low complexity region 1011 1019 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000053692
AA Change: V167M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
AA Change: V167M

DomainStartEndE-ValueType
Pfam:Aa_trans 4 381 8.6e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076697
AA Change: V167M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
AA Change: V167M

DomainStartEndE-ValueType
Pfam:Aa_trans 4 389 4.7e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103018
AA Change: V167M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: V167M

DomainStartEndE-ValueType
Pfam:Aa_trans 4 398 8.5e-55 PFAM
low complexity region 546 563 N/A INTRINSIC
low complexity region 654 667 N/A INTRINSIC
coiled coil region 707 743 N/A INTRINSIC
low complexity region 835 845 N/A INTRINSIC
low complexity region 1019 1027 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135605
Predicted Effect probably damaging
Transcript: ENSMUST00000179094
AA Change: V167M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: V167M

DomainStartEndE-ValueType
Pfam:Aa_trans 4 398 1e-54 PFAM
low complexity region 546 563 N/A INTRINSIC
low complexity region 654 667 N/A INTRINSIC
coiled coil region 707 743 N/A INTRINSIC
low complexity region 835 845 N/A INTRINSIC
low complexity region 1019 1027 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152859
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 G A 13: 104,566,298 (GRCm39) G731D possibly damaging Het
Adgre4 C T 17: 56,109,135 (GRCm39) L381F probably damaging Het
Baz2a A G 10: 127,960,804 (GRCm39) T1538A probably benign Het
C1qtnf6 T C 15: 78,409,094 (GRCm39) Y251C probably damaging Het
Cgn T C 3: 94,672,855 (GRCm39) N941S probably benign Het
Clca4b T C 3: 144,638,152 (GRCm39) I37V probably benign Het
Crtc1 T C 8: 70,892,172 (GRCm39) K13E probably benign Het
Cubn A G 2: 13,461,508 (GRCm39) L673P probably damaging Het
Cyp4f18 C T 8: 72,743,771 (GRCm39) V395I probably damaging Het
Def8 A G 8: 124,186,389 (GRCm39) D400G possibly damaging Het
Dvl1 A G 4: 155,938,155 (GRCm39) D101G possibly damaging Het
Fbxw20 T A 9: 109,063,770 (GRCm39) M1L probably damaging Het
Gad2 C T 2: 22,575,398 (GRCm39) H501Y probably benign Het
Herc3 C T 6: 58,851,248 (GRCm39) P499L probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kyat3 G A 3: 142,432,018 (GRCm39) V249I probably damaging Het
Med28 A G 5: 45,680,812 (GRCm39) E92G probably damaging Het
Mtcl3 T A 10: 29,072,469 (GRCm39) L587* probably null Het
Nup155 T C 15: 8,150,939 (GRCm39) probably benign Het
Nxf1 T C 19: 8,740,106 (GRCm39) I91T possibly damaging Het
Or8g50 T C 9: 39,648,795 (GRCm39) I228T probably damaging Het
Orc5 T A 5: 22,728,537 (GRCm39) T305S probably damaging Het
Psme4 T C 11: 30,765,710 (GRCm39) probably null Het
Rtca A G 3: 116,298,110 (GRCm39) C100R probably damaging Het
Septin14 G T 5: 129,760,715 (GRCm39) H377N probably benign Het
Shcbp1l A T 1: 153,311,553 (GRCm39) N258I possibly damaging Het
Shisa4 A C 1: 135,301,023 (GRCm39) S82R probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Spata18 G A 5: 73,815,097 (GRCm39) E69K possibly damaging Het
Srsf2 A C 11: 116,743,096 (GRCm39) probably benign Het
Taf1b T A 12: 24,597,066 (GRCm39) V335E possibly damaging Het
Tenm4 G A 7: 96,517,216 (GRCm39) V1399I probably benign Het
Topbp1 C T 9: 103,222,142 (GRCm39) R1338C probably benign Het
Ugt1a5 A G 1: 88,094,162 (GRCm39) E130G probably benign Het
Wdfy2 T A 14: 63,181,526 (GRCm39) S219T probably damaging Het
Zbtb38 C A 9: 96,569,547 (GRCm39) R512S probably damaging Het
Zfp574 T C 7: 24,781,015 (GRCm39) V679A probably benign Het
Other mutations in Slc38a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Slc38a10 APN 11 119,997,428 (GRCm39) missense probably damaging 0.96
IGL01420:Slc38a10 APN 11 119,997,286 (GRCm39) missense probably damaging 0.99
IGL01704:Slc38a10 APN 11 120,041,913 (GRCm39) utr 5 prime probably benign
IGL01747:Slc38a10 APN 11 120,025,600 (GRCm39) splice site probably benign
IGL02295:Slc38a10 APN 11 120,007,684 (GRCm39) splice site probably benign
IGL02300:Slc38a10 APN 11 120,001,116 (GRCm39) missense probably benign 0.00
IGL02429:Slc38a10 APN 11 120,025,714 (GRCm39) splice site probably benign
IGL03155:Slc38a10 APN 11 119,995,945 (GRCm39) missense probably damaging 0.96
IGL03396:Slc38a10 APN 11 120,019,301 (GRCm39) missense probably damaging 1.00
Cascade UTSW 11 120,038,645 (GRCm39) missense probably damaging 1.00
cherries UTSW 11 120,041,903 (GRCm39) start codon destroyed probably null 1.00
Ore UTSW 11 120,025,679 (GRCm39) missense probably damaging 1.00
rainier UTSW 11 120,020,138 (GRCm39) nonsense probably null
slag UTSW 11 120,023,567 (GRCm39) missense probably damaging 1.00
R0048:Slc38a10 UTSW 11 120,001,138 (GRCm39) missense probably benign 0.11
R0068:Slc38a10 UTSW 11 120,025,679 (GRCm39) missense probably damaging 1.00
R0068:Slc38a10 UTSW 11 120,025,679 (GRCm39) missense probably damaging 1.00
R0069:Slc38a10 UTSW 11 119,997,328 (GRCm39) missense probably damaging 1.00
R0101:Slc38a10 UTSW 11 120,041,903 (GRCm39) start codon destroyed probably null 1.00
R0743:Slc38a10 UTSW 11 120,031,469 (GRCm39) missense probably damaging 1.00
R1159:Slc38a10 UTSW 11 119,996,301 (GRCm39) missense probably benign
R2101:Slc38a10 UTSW 11 120,023,567 (GRCm39) missense probably damaging 1.00
R2367:Slc38a10 UTSW 11 120,001,087 (GRCm39) missense probably benign 0.12
R4280:Slc38a10 UTSW 11 120,028,704 (GRCm39) missense probably damaging 1.00
R4282:Slc38a10 UTSW 11 120,020,090 (GRCm39) missense probably damaging 1.00
R5206:Slc38a10 UTSW 11 119,995,888 (GRCm39) missense probably damaging 0.99
R5658:Slc38a10 UTSW 11 119,996,218 (GRCm39) missense probably benign 0.11
R6114:Slc38a10 UTSW 11 120,020,138 (GRCm39) nonsense probably null
R6118:Slc38a10 UTSW 11 120,023,669 (GRCm39) missense probably damaging 1.00
R6306:Slc38a10 UTSW 11 120,038,645 (GRCm39) missense probably damaging 1.00
R6395:Slc38a10 UTSW 11 120,015,208 (GRCm39) missense probably benign 0.01
R6428:Slc38a10 UTSW 11 119,996,298 (GRCm39) missense probably benign 0.09
R7764:Slc38a10 UTSW 11 119,995,905 (GRCm39) missense probably damaging 1.00
R7835:Slc38a10 UTSW 11 120,007,822 (GRCm39) missense possibly damaging 0.95
R8790:Slc38a10 UTSW 11 120,023,519 (GRCm39) missense possibly damaging 0.95
R9151:Slc38a10 UTSW 11 120,007,762 (GRCm39) missense probably benign 0.00
R9227:Slc38a10 UTSW 11 119,996,781 (GRCm39) missense probably benign 0.20
R9230:Slc38a10 UTSW 11 119,996,781 (GRCm39) missense probably benign 0.20
X0062:Slc38a10 UTSW 11 120,007,726 (GRCm39) missense possibly damaging 0.75
Posted On 2011-12-09