Incidental Mutation 'IGL00236:Slc38a10'
ID 2199
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 # IGL00236
Quality Score
Status
Chromosome 11
Chromosomal Location 119994786-120042172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119997428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 689 (R689G)
Ref Sequence ENSEMBL: ENSMUSP00000136719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045402] [ENSMUST00000103018] [ENSMUST00000179094]
AlphaFold Q5I012
Predicted Effect possibly damaging
Transcript: ENSMUST00000045402
AA Change: R681G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: R681G

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 possibly damaging
Transcript: ENSMUST00000103018
AA Change: R689G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: R689G

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: 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 probably damaging
Transcript: ENSMUST00000179094
AA Change: R689G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: R689G

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: ENSMUST00000148503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154444
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,490,467 (GRCm39) V43A probably damaging Het
Ankrd17 A T 5: 90,381,787 (GRCm39) S2460T probably damaging Het
Ap4e1 T C 2: 126,870,201 (GRCm39) L176P probably damaging Het
Caprin2 A G 6: 148,744,569 (GRCm39) I952T probably damaging Het
Cdkl4 A T 17: 80,832,705 (GRCm39) probably benign Het
Cfap44 T C 16: 44,227,767 (GRCm39) L156P probably damaging Het
Dock9 A G 14: 121,905,880 (GRCm39) L90S probably benign Het
Efhb T C 17: 53,769,481 (GRCm39) D276G probably damaging Het
Ep300 A G 15: 81,525,619 (GRCm39) D1481G unknown Het
Fam83b T C 9: 76,398,260 (GRCm39) I948V probably benign Het
Fbxl5 G T 5: 43,922,678 (GRCm39) H247N probably damaging Het
Fn1 A G 1: 71,692,032 (GRCm39) I37T probably benign Het
Hfe C T 13: 23,889,835 (GRCm39) probably benign Het
Ighv1-36 A T 12: 114,843,770 (GRCm39) L29Q possibly damaging Het
Inpp5e G T 2: 26,298,533 (GRCm39) Q23K probably benign Het
L3mbtl1 T C 2: 162,808,983 (GRCm39) S619P probably damaging Het
Myh8 T C 11: 67,174,644 (GRCm39) I253T probably damaging Het
Ntrk1 C T 3: 87,698,745 (GRCm39) V99M possibly damaging Het
Or51s1 T C 7: 102,558,479 (GRCm39) H189R probably damaging Het
Or5b124 A T 19: 13,610,903 (GRCm39) I143F probably benign Het
Pard6a T C 8: 106,429,446 (GRCm39) S135P probably damaging Het
Prss43 G T 9: 110,658,538 (GRCm39) Q279H probably benign Het
Ptcd2 T C 13: 99,466,573 (GRCm39) N207D probably benign Het
Ros1 T C 10: 52,070,986 (GRCm39) I23V probably benign Het
Scg5 A G 2: 113,657,915 (GRCm39) probably benign Het
Sh3bp5 T A 14: 31,101,347 (GRCm39) K212* probably null Het
Slc25a30 C T 14: 76,004,365 (GRCm39) G244D possibly damaging Het
Spatc1 A G 15: 76,168,994 (GRCm39) D321G probably damaging Het
Stat4 A T 1: 52,142,037 (GRCm39) Y628F probably damaging Het
Wdr35 G A 12: 9,069,900 (GRCm39) V813I probably benign Het
Other mutations in Slc38a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Slc38a10 APN 11 120,029,814 (GRCm39) missense probably damaging 1.00
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