Incidental Mutation 'IGL03396:Slc38a10'
ID421257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a10
Ensembl Gene ENSMUSG00000061306
Gene Namesolute carrier family 38, member 10
Synonyms1810073N04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03396
Quality Score
Status
Chromosome11
Chromosomal Location120103960-120151346 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120128475 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 360 (I360N)
Ref Sequence ENSEMBL: ENSMUSP00000136719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045402] [ENSMUST00000053692] [ENSMUST00000076697] [ENSMUST00000103018] [ENSMUST00000179094]
Predicted Effect probably damaging
Transcript: ENSMUST00000045402
AA Change: I360N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: I360N

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: I360N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
AA Change: I360N

DomainStartEndE-ValueType
Pfam:Aa_trans 4 381 8.6e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076697
AA Change: I360N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
AA Change: I360N

DomainStartEndE-ValueType
Pfam:Aa_trans 4 389 4.7e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103018
AA Change: I360N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: I360N

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: ENSMUST00000154444
Predicted Effect probably damaging
Transcript: ENSMUST00000179094
AA Change: I360N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: I360N

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 70,011,413 R457* probably null Het
Arl5b C A 2: 15,075,104 T153K probably damaging Het
Arsb A T 13: 93,939,317 Y436F probably benign Het
Azgp1 C T 5: 137,985,183 P40L possibly damaging Het
B020004C17Rik A G 14: 57,016,536 T39A possibly damaging Het
Cacna2d3 G A 14: 29,720,877 Q67* probably null Het
Cdcp2 C A 4: 107,107,172 Y406* probably null Het
Cep89 T A 7: 35,429,178 D585E probably benign Het
Cfap65 A G 1: 74,904,642 F1570S probably damaging Het
Cnfn A G 7: 25,368,358 probably benign Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fra10ac1 C T 19: 38,201,546 probably null Het
Gjc1 T C 11: 102,800,527 K217E probably benign Het
Il20rb T C 9: 100,459,198 E285G probably damaging Het
Ints2 T C 11: 86,213,062 T1086A probably damaging Het
Itih4 A T 14: 30,887,949 I79F probably damaging Het
Jmjd6 A T 11: 116,841,251 L208H probably damaging Het
Lilr4b A G 10: 51,481,157 I30V possibly damaging Het
Limch1 A G 5: 66,953,673 N81S probably damaging Het
Mettl21e A T 1: 44,206,599 N162K possibly damaging Het
Ninl A G 2: 150,966,212 S299P possibly damaging Het
Obscn A G 11: 59,073,578 L3046P probably benign Het
Olfr1450 T A 19: 12,953,820 V77E probably damaging Het
Olfr342 C A 2: 36,527,680 S89R probably benign Het
Olfr780 A G 10: 129,322,047 I141M probably benign Het
Pnpla8 G A 12: 44,283,526 R287H probably benign Het
Pot1a A C 6: 25,745,914 I596R possibly damaging Het
Prkaa1 A G 15: 5,176,650 D329G probably damaging Het
Ptprr T G 10: 116,188,330 V182G probably damaging Het
Rrp1b T A 17: 32,057,263 probably benign Het
Sec24a A G 11: 51,708,967 V837A probably benign Het
Slc17a6 A G 7: 51,669,092 Y494C probably damaging Het
Snrpb2 T C 2: 143,071,457 F194L possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Trpv1 A G 11: 73,253,056 N238S probably benign Het
Usp20 T C 2: 31,011,717 V498A probably benign Het
Vmn2r23 T C 6: 123,729,626 S472P probably damaging Het
Vmn2r98 A T 17: 19,069,845 T548S possibly damaging Het
Zfp429 A T 13: 67,396,040 probably benign 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
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
R1159:Slc38a10 UTSW 11 120105475 missense probably benign
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
R7764:Slc38a10 UTSW 11 120105079 missense probably damaging 1.00
R7835:Slc38a10 UTSW 11 120116996 missense possibly damaging 0.95
R7918:Slc38a10 UTSW 11 120116996 missense possibly damaging 0.95
X0062:Slc38a10 UTSW 11 120116900 missense possibly damaging 0.75
Posted On2016-08-02