Incidental Mutation 'R6118:Slc38a10'
ID 485219
Institutional Source Beutler Lab
Gene Symbol Slc38a10
Ensembl Gene ENSMUSG00000061306
Gene Name solute carrier family 38, member 10
Synonyms 1810073N04Rik
MMRRC Submission 044267-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6118 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 119994786-120042172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120023669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 249 (Y249C)
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: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: Y249C

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: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
AA Change: Y249C

DomainStartEndE-ValueType
Pfam:Aa_trans 4 381 8.6e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076697
AA Change: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
AA Change: Y249C

DomainStartEndE-ValueType
Pfam:Aa_trans 4 389 4.7e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103018
AA Change: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: Y249C

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: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: Y249C

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T G 10: 10,307,035 (GRCm39) K316N probably damaging Het
Als2 A T 1: 59,242,228 (GRCm39) V609E possibly damaging Het
Ank3 A G 10: 69,830,231 (GRCm39) I71V probably damaging Het
Antxr2 T A 5: 98,097,060 (GRCm39) D351V probably damaging Het
Arel1 A G 12: 84,988,713 (GRCm39) V12A possibly damaging Het
Atad1 C T 19: 32,664,697 (GRCm39) R239H possibly damaging Het
B3galnt2 A G 13: 14,166,094 (GRCm39) T330A probably damaging Het
Bag6 T A 17: 35,362,600 (GRCm39) I636N probably damaging Het
C1qtnf6 T C 15: 78,409,595 (GRCm39) D84G probably damaging Het
Ceacam20 T C 7: 19,705,654 (GRCm39) V215A possibly damaging Het
Chtf18 C T 17: 25,938,133 (GRCm39) D967N probably damaging Het
Cntnap2 T A 6: 47,170,011 (GRCm39) I1159K possibly damaging Het
Col2a1 T C 15: 97,896,448 (GRCm39) D67G unknown Het
Csde1 T A 3: 102,962,070 (GRCm39) V627E probably benign Het
Epb41l1 G A 2: 156,364,397 (GRCm39) E969K probably benign Het
Fam53c A C 18: 34,901,743 (GRCm39) E220A probably damaging Het
Gabbr2 C T 4: 46,736,459 (GRCm39) R474Q probably damaging Het
H2bc18 T A 3: 96,177,267 (GRCm39) V67E probably damaging Het
Hap1 G T 11: 100,246,620 (GRCm39) T95N probably benign Het
Jmjd1c A G 10: 67,075,791 (GRCm39) K1886R probably damaging Het
Kndc1 A G 7: 139,503,717 (GRCm39) D1007G probably damaging Het
Mcm2 C T 6: 88,864,818 (GRCm39) A553T probably damaging Het
Memo1 T C 17: 74,509,302 (GRCm39) Y239C possibly damaging Het
Meox2 GCACCACCACCACCACCACCA GCACCACCACCACCACCA 12: 37,159,030 (GRCm39) probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Obsl1 A G 1: 75,468,722 (GRCm39) probably benign Het
Or4c107 T A 2: 88,789,462 (GRCm39) Y217* probably null Het
Or8k35 T A 2: 86,424,758 (GRCm39) H138L probably benign Het
Pold3 A G 7: 99,745,614 (GRCm39) S180P possibly damaging Het
Rbm12b2 T C 4: 12,095,135 (GRCm39) S665P probably benign Het
Rfc4 A T 16: 22,939,693 (GRCm39) S86T probably damaging Het
Rfx6 T A 10: 51,587,962 (GRCm39) N277K possibly damaging Het
Ryr2 C A 13: 11,807,575 (GRCm39) V865F possibly damaging Het
Skint4 T A 4: 111,977,019 (GRCm39) probably null Het
Slco1b2 A G 6: 141,603,236 (GRCm39) T206A probably benign Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tbc1d1 C T 5: 64,441,380 (GRCm39) L655F probably damaging Het
Tpp2 A T 1: 43,979,306 (GRCm39) I68F probably damaging Het
Trim30c G T 7: 104,031,288 (GRCm39) T509K probably benign Het
Zfp827 G T 8: 79,803,067 (GRCm39) K546N possibly damaging 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
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
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'- CTCCTACGACCACTGTCATG -3'
(R):5'- GTCTTGTGCAAGCTTCCCTG -3'

Sequencing Primer
(F):5'- GGGAGAGGACCATACCTGCTG -3'
(R):5'- TCCCTGGGGAAGTACTTTAAGACC -3'
Posted On 2017-08-16