Incidental Mutation 'R2101:Slc38a10'
ID 230521
Institutional Source Beutler Lab
Gene Symbol Slc38a10
Ensembl Gene ENSMUSG00000061306
Gene Name solute carrier family 38, member 10
Synonyms 1810073N04Rik
MMRRC Submission 040105-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2101 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 119994786-120042172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120023567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 283 (V283E)
Ref Sequence ENSEMBL: ENSMUSP00000136719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045402] [ENSMUST00000053692] [ENSMUST00000076697] [ENSMUST00000103018] [ENSMUST00000179094]
AlphaFold Q5I012
Predicted Effect probably damaging
Transcript: ENSMUST00000045402
AA Change: V283E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: V283E

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: V283E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
AA Change: V283E

DomainStartEndE-ValueType
Pfam:Aa_trans 4 381 8.6e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076697
AA Change: V283E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
AA Change: V283E

DomainStartEndE-ValueType
Pfam:Aa_trans 4 389 4.7e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103018
AA Change: V283E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: V283E

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: ENSMUST00000150315
Predicted Effect probably damaging
Transcript: ENSMUST00000179094
AA Change: V283E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: V283E

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: ENSMUST00000154444
Meta Mutation Damage Score 0.9513 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G A 2: 103,397,207 (GRCm39) A46T probably benign Het
Agap3 T A 5: 24,692,797 (GRCm39) L47Q probably damaging Het
Apaf1 T G 10: 90,895,942 (GRCm39) I377L probably benign Het
Astn2 G A 4: 65,499,923 (GRCm39) R937* probably null Het
Cacnb1 A C 11: 97,896,554 (GRCm39) V369G probably damaging Het
Cdc42bpa G T 1: 179,974,533 (GRCm39) V1464L probably benign Het
Cdkn2aip A T 8: 48,166,036 (GRCm39) M90K probably damaging Het
Chd3 A T 11: 69,239,877 (GRCm39) D1650E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a2 T C 3: 144,783,699 (GRCm39) T639A probably damaging Het
Cluh G T 11: 74,551,328 (GRCm39) probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Col11a2 A T 17: 34,271,143 (GRCm39) D528V probably damaging Het
Cyfip2 A G 11: 46,133,270 (GRCm39) L810P probably damaging Het
D430041D05Rik A G 2: 103,979,175 (GRCm39) V2084A probably damaging Het
Dcc G A 18: 71,943,941 (GRCm39) H237Y possibly damaging Het
Ddx60 T A 8: 62,393,679 (GRCm39) F38L probably damaging Het
Dio2 T C 12: 90,696,597 (GRCm39) *130W probably null Het
Dock5 G T 14: 68,031,459 (GRCm39) F990L probably benign Het
Dpy19l1 A T 9: 24,393,331 (GRCm39) V146E probably damaging Het
Dscam T C 16: 96,411,549 (GRCm39) T1776A probably benign Het
Enpep C T 3: 129,092,587 (GRCm39) S532N probably benign Het
Gdf6 A G 4: 9,860,025 (GRCm39) D369G probably damaging Het
Gtf2b T C 3: 142,477,144 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,066,028 (GRCm39) probably benign Het
Hps3 C A 3: 20,066,947 (GRCm39) V540F possibly damaging Het
Hsd3b6 T A 3: 98,713,553 (GRCm39) I249F possibly damaging Het
Hunk T A 16: 90,229,388 (GRCm39) probably null Het
Kidins220 T A 12: 25,107,422 (GRCm39) L1625Q probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Myo10 T A 15: 25,722,345 (GRCm39) L186Q probably benign Het
N4bp2 T A 5: 65,948,224 (GRCm39) W285R probably damaging Het
Nat8l T C 5: 34,155,716 (GRCm39) L124P probably damaging Het
Nemp2 T C 1: 52,680,225 (GRCm39) probably null Het
Nkain2 G A 10: 32,205,813 (GRCm39) T74I possibly damaging Het
Nol4 A G 18: 22,956,466 (GRCm39) S239P probably damaging Het
Or4c118 T A 2: 88,975,301 (GRCm39) E22V probably benign Het
Pcbp3 T C 10: 76,625,589 (GRCm39) I152V possibly damaging Het
Pcp4l1 G T 1: 171,003,174 (GRCm39) P10Q probably damaging Het
Pla1a T C 16: 38,235,730 (GRCm39) N135D probably damaging Het
Plb1 T A 5: 32,507,004 (GRCm39) M1193K probably damaging Het
Prc1 T C 7: 79,962,032 (GRCm39) V73A probably benign Het
Prkd2 T A 7: 16,603,490 (GRCm39) W807R probably damaging Het
Prp2rt G T 13: 97,235,730 (GRCm39) R6S probably damaging Het
Ptprb C T 10: 116,150,943 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,559 (GRCm39) I993V probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rev3l T C 10: 39,704,092 (GRCm39) V2046A probably benign Het
Rnpep G T 1: 135,199,355 (GRCm39) N334K probably damaging Het
Sarm1 G A 11: 78,366,115 (GRCm39) P695S probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Slco6c1 A T 1: 97,000,595 (GRCm39) L552* probably null Het
Tas2r136 T C 6: 132,754,495 (GRCm39) M211V probably benign Het
Tax1bp3 G A 11: 73,071,947 (GRCm39) D65N probably damaging Het
Tdrd5 A G 1: 156,129,209 (GRCm39) F167S probably damaging Het
Tfeb G A 17: 48,100,590 (GRCm39) V269M probably damaging Het
Tspan12 A T 6: 21,799,887 (GRCm39) F153L probably benign Het
Txnrd1 T G 10: 82,717,573 (GRCm39) L186V probably damaging Het
Upk1b A T 16: 38,600,499 (GRCm39) C160* probably null Het
Uty T C Y: 1,176,541 (GRCm39) Q172R probably damaging Het
Vmn1r23 T C 6: 57,903,437 (GRCm39) K114E possibly damaging Het
Vmn2r99 T G 17: 19,598,253 (GRCm39) N92K probably damaging Het
Vstm2a T A 11: 16,213,191 (GRCm39) M192K probably benign Het
Zc3h12c A G 9: 52,027,721 (GRCm39) V547A probably benign Het
Zfp944 T A 17: 22,558,809 (GRCm39) N146I probably benign Het
Other mutations in Slc38a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Slc38a10 APN 11 120,029,814 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TAAGCCAAGACTTCACTTCACTTG -3'
(R):5'- ACTGGCAGATACAGAGCTGG -3'

Sequencing Primer
(F):5'- ACCAGTCGGATGTCTCAGCAAG -3'
(R):5'- ATACAGAGCTGGCCTCATTG -3'
Posted On 2014-09-18