Incidental Mutation 'R5748:Slc10a5'
ID 445856
Institutional Source Beutler Lab
Gene Symbol Slc10a5
Ensembl Gene ENSMUSG00000058921
Gene Name solute carrier family 10 (sodium/bile acid cotransporter family), member 5
Synonyms LOC241877
MMRRC Submission 043355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5748 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 10396794-10400716 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10400391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 90 (T90A)
Ref Sequence ENSEMBL: ENSMUSP00000077808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037839] [ENSMUST00000065938] [ENSMUST00000078748] [ENSMUST00000118410] [ENSMUST00000128912] [ENSMUST00000191670] [ENSMUST00000192603]
AlphaFold Q5PT54
Predicted Effect probably benign
Transcript: ENSMUST00000037839
SMART Domains Protein: ENSMUSP00000037459
Gene: ENSMUSG00000039795

DomainStartEndE-ValueType
ZnF_AN1 10 49 1.4e-8 SMART
ZnF_AN1 64 103 2.64e-4 SMART
low complexity region 121 142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000065938
SMART Domains Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531

DomainStartEndE-ValueType
Pfam:Inositol_P 5 271 1.5e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078748
AA Change: T90A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000077808
Gene: ENSMUSG00000058921
AA Change: T90A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SBF 144 328 1.1e-34 PFAM
transmembrane domain 336 358 N/A INTRINSIC
transmembrane domain 365 384 N/A INTRINSIC
transmembrane domain 394 416 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118410
SMART Domains Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531

DomainStartEndE-ValueType
Pfam:Inositol_P 5 271 7.7e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125734
Predicted Effect probably benign
Transcript: ENSMUST00000128912
SMART Domains Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531

DomainStartEndE-ValueType
Pfam:Inositol_P 19 90 4.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191670
SMART Domains Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531

DomainStartEndE-ValueType
Pfam:Inositol_P 5 180 4.7e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192603
SMART Domains Protein: ENSMUSP00000141735
Gene: ENSMUSG00000103392

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 69 85 N/A INTRINSIC
Meta Mutation Damage Score 0.0804 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,739,447 (GRCm39) Q285R probably damaging Het
Acy1 T A 9: 106,313,926 (GRCm39) N78I probably damaging Het
Anln T C 9: 22,249,230 (GRCm39) K166E probably damaging Het
C1qtnf4 A G 2: 90,719,877 (GRCm39) D50G probably damaging Het
Cntnap2 A G 6: 45,692,818 (GRCm39) T100A probably damaging Het
Cxcr6 C T 9: 123,639,406 (GRCm39) R143C probably damaging Het
Dhx16 T C 17: 36,194,206 (GRCm39) L439P probably damaging Het
Dlk1 T C 12: 109,425,898 (GRCm39) V257A probably benign Het
Ebpl A T 14: 61,597,793 (GRCm39) L16Q probably null Het
Eml5 T A 12: 98,791,814 (GRCm39) Y1234F probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gria1 A G 11: 57,200,702 (GRCm39) D793G probably benign Het
Gtse1 T C 15: 85,751,778 (GRCm39) Y324H probably benign Het
Hcn1 A T 13: 118,112,591 (GRCm39) S852C probably damaging Het
Invs A G 4: 48,307,823 (GRCm39) T83A probably damaging Het
Iqgap3 T C 3: 88,016,677 (GRCm39) L155P probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc14b T A 13: 74,511,759 (GRCm39) D107V probably damaging Het
Mcm9 A T 10: 53,501,825 (GRCm39) H253Q probably damaging Het
Mcmdc2 A G 1: 9,982,032 (GRCm39) Y30C probably damaging Het
Mdga1 C T 17: 30,069,525 (GRCm39) D174N probably benign Het
Med13l G A 5: 118,731,510 (GRCm39) R62H probably damaging Het
Mrgpra2b A G 7: 47,152,280 (GRCm39) probably benign Het
Nacad T A 11: 6,548,370 (GRCm39) K1426* probably null Het
Ndufb6 A G 4: 40,279,234 (GRCm39) L35S probably damaging Het
Niban2 A T 2: 32,809,581 (GRCm39) K260M probably damaging Het
Nkapl A G 13: 21,651,779 (GRCm39) I278T probably benign Het
Nrbp2 T C 15: 75,961,332 (GRCm39) E263G probably damaging Het
Nup85 T A 11: 115,471,338 (GRCm39) L110Q probably damaging Het
Or14c40 A G 7: 86,313,293 (GRCm39) N141S possibly damaging Het
Or1e35 A G 11: 73,797,721 (GRCm39) I199T probably damaging Het
Or2t6 T C 14: 14,175,314 (GRCm38) Y256C probably damaging Het
Or4a78 A T 2: 89,498,146 (GRCm39) M28K possibly damaging Het
Or5b12 T A 19: 12,897,379 (GRCm39) Q98L probably damaging Het
Or6b2b T A 1: 92,418,815 (GRCm39) I221F probably damaging Het
Polr2m C T 9: 71,390,918 (GRCm39) D95N probably benign Het
Popdc2 A T 16: 38,194,665 (GRCm39) D362V probably damaging Het
Pot1a A T 6: 25,758,855 (GRCm39) I308N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rundc3a G A 11: 102,290,225 (GRCm39) E189K possibly damaging Het
Scaf1 A C 7: 44,662,230 (GRCm39) probably null Het
Scaper T C 9: 55,766,360 (GRCm39) probably null Het
Sh3glb1 C T 3: 144,418,410 (GRCm39) C51Y probably damaging Het
Slc17a3 T A 13: 24,040,449 (GRCm39) S336T probably damaging Het
Slc41a2 C A 10: 83,133,023 (GRCm39) C341F probably benign Het
Spata31 A G 13: 65,068,127 (GRCm39) *67W probably null Het
Stap2 C T 17: 56,307,475 (GRCm39) probably null Het
Stt3a A T 9: 36,663,696 (GRCm39) M182K probably benign Het
Tcfl5 G A 2: 180,284,050 (GRCm39) silent Het
Tmx3 T C 18: 90,555,225 (GRCm39) V314A probably benign Het
Upf1 A G 8: 70,791,167 (GRCm39) L525P probably damaging Het
Wdr6 T C 9: 108,452,981 (GRCm39) I301V possibly damaging Het
Ylpm1 T A 12: 85,107,025 (GRCm39) probably null Het
Zfp273 T C 13: 67,973,450 (GRCm39) Y160H probably damaging Het
Other mutations in Slc10a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Slc10a5 APN 3 10,400,369 (GRCm39) missense probably benign 0.05
IGL01785:Slc10a5 APN 3 10,400,259 (GRCm39) missense probably benign 0.00
IGL01823:Slc10a5 APN 3 10,399,574 (GRCm39) missense possibly damaging 0.93
IGL01915:Slc10a5 APN 3 10,400,580 (GRCm39) missense probably damaging 0.98
IGL02522:Slc10a5 APN 3 10,400,181 (GRCm39) missense probably benign 0.09
IGL02721:Slc10a5 APN 3 10,399,595 (GRCm39) missense probably benign 0.01
PIT4382001:Slc10a5 UTSW 3 10,400,507 (GRCm39) missense probably benign
R0558:Slc10a5 UTSW 3 10,400,177 (GRCm39) missense probably damaging 1.00
R0961:Slc10a5 UTSW 3 10,399,484 (GRCm39) missense probably benign 0.00
R1747:Slc10a5 UTSW 3 10,400,451 (GRCm39) missense probably benign 0.04
R1889:Slc10a5 UTSW 3 10,400,550 (GRCm39) missense probably benign 0.33
R2130:Slc10a5 UTSW 3 10,400,278 (GRCm39) missense probably benign
R2171:Slc10a5 UTSW 3 10,400,342 (GRCm39) missense possibly damaging 0.59
R2970:Slc10a5 UTSW 3 10,400,127 (GRCm39) missense probably damaging 1.00
R2972:Slc10a5 UTSW 3 10,399,517 (GRCm39) missense probably damaging 0.98
R2973:Slc10a5 UTSW 3 10,399,517 (GRCm39) missense probably damaging 0.98
R4241:Slc10a5 UTSW 3 10,400,520 (GRCm39) missense probably damaging 1.00
R4700:Slc10a5 UTSW 3 10,400,360 (GRCm39) missense probably damaging 1.00
R4700:Slc10a5 UTSW 3 10,400,359 (GRCm39) missense probably damaging 1.00
R4790:Slc10a5 UTSW 3 10,400,096 (GRCm39) missense probably damaging 1.00
R4834:Slc10a5 UTSW 3 10,399,859 (GRCm39) missense probably damaging 0.97
R4891:Slc10a5 UTSW 3 10,399,685 (GRCm39) missense possibly damaging 0.79
R5220:Slc10a5 UTSW 3 10,400,148 (GRCm39) nonsense probably null
R5548:Slc10a5 UTSW 3 10,399,377 (GRCm39) missense probably benign
R6573:Slc10a5 UTSW 3 10,400,110 (GRCm39) missense probably damaging 1.00
R6909:Slc10a5 UTSW 3 10,400,655 (GRCm39) missense possibly damaging 0.90
R7355:Slc10a5 UTSW 3 10,399,375 (GRCm39) nonsense probably null
R7807:Slc10a5 UTSW 3 10,400,529 (GRCm39) missense probably benign 0.00
R7866:Slc10a5 UTSW 3 10,399,532 (GRCm39) missense probably damaging 0.99
R8219:Slc10a5 UTSW 3 10,400,384 (GRCm39) missense probably benign 0.32
R8975:Slc10a5 UTSW 3 10,399,670 (GRCm39) missense probably benign 0.17
R9044:Slc10a5 UTSW 3 10,399,792 (GRCm39) missense probably damaging 1.00
R9514:Slc10a5 UTSW 3 10,400,532 (GRCm39) missense possibly damaging 0.83
Z1176:Slc10a5 UTSW 3 10,399,547 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCCACACTGTTTGAAGCACC -3'
(R):5'- CAGAAATGCTGTCCTTTACAAGG -3'

Sequencing Primer
(F):5'- GCACCTGGAATTCAATCTTGCAG -3'
(R):5'- CTTTACAAGGACGGAAGAAAACATC -3'
Posted On 2016-11-21