Incidental Mutation 'R1159:Slc38a10'
ID101987
Institutional Source Beutler Lab
Gene Symbol Slc38a10
Ensembl Gene ENSMUSG00000061306
Gene Namesolute carrier family 38, member 10
Synonyms1810073N04Rik
MMRRC Submission 039232-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1159 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location120103960-120151346 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120105475 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 932 (V932A)
Ref Sequence ENSEMBL: ENSMUSP00000136719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045402] [ENSMUST00000103018] [ENSMUST00000106223] [ENSMUST00000179094]
Predicted Effect probably benign
Transcript: ENSMUST00000045402
AA Change: V924A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: V924A

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 benign
Transcript: ENSMUST00000103018
AA Change: V932A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: V932A

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 probably benign
Transcript: ENSMUST00000106223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148503
Predicted Effect probably benign
Transcript: ENSMUST00000179094
AA Change: V932A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: V932A

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
Meta Mutation Damage Score 0.1208 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,115,138 H164Y probably damaging Het
Acss2 T C 2: 155,551,218 I288T probably benign Het
Akap9 C T 5: 3,960,865 R541C probably damaging Het
Ano5 T C 7: 51,579,474 probably benign Het
Anp32b T C 4: 46,471,478 probably benign Het
Avil T C 10: 127,011,790 V528A possibly damaging Het
B020004J07Rik T C 4: 101,838,027 E29G possibly damaging Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Cdk10 T C 8: 123,228,323 probably benign Het
Cfap65 A T 1: 74,929,340 F111Y probably damaging Het
Cryge A G 1: 65,050,808 F72L probably benign Het
Ercc3 C T 18: 32,264,558 T614I possibly damaging Het
Fgd5 T C 6: 91,988,502 I572T probably benign Het
Fubp1 A G 3: 152,215,592 D88G possibly damaging Het
Gcnt1 C A 19: 17,329,804 V186F possibly damaging Het
Gldc A T 19: 30,160,762 probably benign Het
Gxylt2 A G 6: 100,804,641 M426V possibly damaging Het
Hps5 A T 7: 46,772,554 probably null Het
Igf2bp2 G A 16: 22,061,853 probably benign Het
Lamb2 T C 9: 108,481,408 S215P probably damaging Het
Mfsd13b T C 7: 121,014,543 M421T probably damaging Het
Mtif2 C A 11: 29,540,729 R478S possibly damaging Het
Nadk2 G A 15: 9,106,837 R351H possibly damaging Het
Nt5dc1 T C 10: 34,398,173 D167G possibly damaging Het
Nup98 T A 7: 102,160,716 T536S probably damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Ppig T A 2: 69,750,224 S701T unknown Het
Ptprc A G 1: 138,072,319 S830P probably damaging Het
Rev3l T A 10: 39,851,925 L2690* probably null Het
Rgs22 A T 15: 36,040,693 S883T probably damaging Het
Rxfp4 A G 3: 88,652,587 W186R probably damaging Het
Sacm1l T C 9: 123,566,411 S200P probably benign Het
Serpinb6d T A 13: 33,671,229 D295E probably damaging Het
Top2b T C 14: 16,430,329 S1568P possibly damaging Het
Tox T G 4: 6,697,600 N401T probably benign Het
Trim24 T C 6: 37,956,477 probably null Het
Unc79 T G 12: 103,047,052 probably benign Het
Vmn2r66 A T 7: 84,995,405 I599N probably benign Het
Zfa-ps T A 10: 52,543,558 noncoding transcript Het
Other mutations in Slc38a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Slc38a10 APN 11 120138988 missense probably damaging 1.00
IGL00236:Slc38a10 APN 11 120106602 missense probably damaging 0.96
IGL01420:Slc38a10 APN 11 120106460 missense probably damaging 0.99
IGL01704:Slc38a10 APN 11 120151087 utr 5 prime probably benign
IGL01747:Slc38a10 APN 11 120134774 splice site probably benign
IGL02295:Slc38a10 APN 11 120116858 splice site probably benign
IGL02300:Slc38a10 APN 11 120110290 missense probably benign 0.00
IGL02429:Slc38a10 APN 11 120134888 splice site probably benign
IGL03155:Slc38a10 APN 11 120105119 missense probably damaging 0.96
IGL03396:Slc38a10 APN 11 120128475 missense probably damaging 1.00
cascade UTSW 11 120147819 missense probably damaging 1.00
cherries UTSW 11 120151077 start codon destroyed probably null 1.00
Ore UTSW 11 120134853 missense probably damaging 1.00
rainier UTSW 11 120129312 nonsense probably null
slag UTSW 11 120132741 missense probably damaging 1.00
R0048:Slc38a10 UTSW 11 120110312 missense probably benign 0.11
R0068:Slc38a10 UTSW 11 120134853 missense probably damaging 1.00
R0068:Slc38a10 UTSW 11 120134853 missense probably damaging 1.00
R0069:Slc38a10 UTSW 11 120106502 missense probably damaging 1.00
R0101:Slc38a10 UTSW 11 120151077 start codon destroyed probably null 1.00
R0743:Slc38a10 UTSW 11 120140643 missense probably damaging 1.00
R2101:Slc38a10 UTSW 11 120132741 missense probably damaging 1.00
R2367:Slc38a10 UTSW 11 120110261 missense probably benign 0.12
R4280:Slc38a10 UTSW 11 120137878 missense probably damaging 1.00
R4282:Slc38a10 UTSW 11 120129264 missense probably damaging 1.00
R5206:Slc38a10 UTSW 11 120105062 missense probably damaging 0.99
R5658:Slc38a10 UTSW 11 120105392 missense probably benign 0.11
R6114:Slc38a10 UTSW 11 120129312 nonsense probably null
R6118:Slc38a10 UTSW 11 120132843 missense probably damaging 1.00
R6306:Slc38a10 UTSW 11 120147819 missense probably damaging 1.00
R6395:Slc38a10 UTSW 11 120124382 missense probably benign 0.01
R6428:Slc38a10 UTSW 11 120105472 missense probably benign 0.09
X0062:Slc38a10 UTSW 11 120116900 missense possibly damaging 0.75
Predicted Primers
Posted On2014-01-15