Incidental Mutation 'IGL02065:Slc10a1'
ID 185598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc10a1
Ensembl Gene ENSMUSG00000021135
Gene Name solute carrier family 10 (sodium/bile acid cotransporter family), member 1
Synonyms sodium bile acid cotransporting polypeptide, Ntcp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02065
Quality Score
Status
Chromosome 12
Chromosomal Location 80999959-81015479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81007248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 178 (S178P)
Ref Sequence ENSEMBL: ENSMUSP00000151555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095572] [ENSMUST00000218162] [ENSMUST00000218342] [ENSMUST00000220266]
AlphaFold O08705
Predicted Effect possibly damaging
Transcript: ENSMUST00000095572
AA Change: S178P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093229
Gene: ENSMUSG00000021135
AA Change: S178P

DomainStartEndE-ValueType
Pfam:SBF 32 217 3.3e-47 PFAM
transmembrane domain 222 244 N/A INTRINSIC
transmembrane domain 282 304 N/A INTRINSIC
low complexity region 323 333 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000218162
AA Change: S178P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218342
AA Change: S178P

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000220266
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,827 (GRCm39) E770K possibly damaging Het
Abhd17a C A 10: 80,422,395 (GRCm39) A22S probably benign Het
Actbl2 A G 13: 111,392,225 (GRCm39) T187A probably benign Het
Adgrl3 G A 5: 81,660,064 (GRCm39) G278R probably damaging Het
Apoh C A 11: 108,305,131 (GRCm39) probably benign Het
Atp2b2 A G 6: 113,790,828 (GRCm39) F192S probably damaging Het
Bdh1 T C 16: 31,268,754 (GRCm39) I163T possibly damaging Het
Bmp1 G T 14: 70,723,660 (GRCm39) N725K probably damaging Het
Bmp1 T A 14: 70,727,547 (GRCm39) I679F probably damaging Het
Bmp2 T A 2: 133,402,844 (GRCm39) F132I probably benign Het
Bpifb5 T C 2: 154,069,103 (GRCm39) L140P probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Carmil3 T C 14: 55,731,279 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,586 (GRCm39) T730A possibly damaging Het
Cdh10 G T 15: 19,013,342 (GRCm39) K647N probably damaging Het
Cdh17 A C 4: 11,771,373 (GRCm39) probably benign Het
Cep126 A G 9: 8,099,925 (GRCm39) S870P probably benign Het
Col6a4 T C 9: 105,954,302 (GRCm39) T346A probably damaging Het
Csmd3 A C 15: 47,530,024 (GRCm39) V2592G probably damaging Het
Dnajc16 A T 4: 141,504,244 (GRCm39) F239I probably damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
F5 G A 1: 164,017,695 (GRCm39) V591M probably damaging Het
Fchsd2 T G 7: 100,826,429 (GRCm39) probably null Het
Flad1 A T 3: 89,316,294 (GRCm39) D89E probably damaging Het
Fsd1 C A 17: 56,303,499 (GRCm39) P457Q probably damaging Het
Gm21985 A G 2: 112,187,929 (GRCm39) D1012G possibly damaging Het
Gon4l A G 3: 88,764,517 (GRCm39) D366G probably null Het
Hadha A G 5: 30,347,843 (GRCm39) probably benign Het
Kdr A G 5: 76,122,513 (GRCm39) probably benign Het
Kyat3 A G 3: 142,426,136 (GRCm39) K24R probably benign Het
Map3k21 A G 8: 126,668,397 (GRCm39) D661G probably benign Het
Mical1 A T 10: 41,360,407 (GRCm39) K615N possibly damaging Het
Ncor1 T C 11: 62,310,435 (GRCm39) K204E possibly damaging Het
Nmral1 T A 16: 4,534,346 (GRCm39) I32F probably benign Het
Nrros T C 16: 31,963,492 (GRCm39) D175G possibly damaging Het
Or10ak8 G A 4: 118,773,968 (GRCm39) T232I probably benign Het
Or12j5 T C 7: 140,084,077 (GRCm39) I98M probably benign Het
Ryr2 A G 13: 11,587,143 (GRCm39) F4713L possibly damaging Het
Serpinb1b G A 13: 33,275,301 (GRCm39) G142D possibly damaging Het
Spint1 G A 2: 119,068,698 (GRCm39) R144H probably benign Het
Sult6b1 C T 17: 79,196,504 (GRCm39) G213R probably damaging Het
Themis3 G T 17: 66,862,900 (GRCm39) H353N probably benign Het
Tpr T C 1: 150,289,525 (GRCm39) S619P probably benign Het
Ttn A T 2: 76,645,134 (GRCm39) V11161E probably damaging Het
Usp13 G A 3: 32,987,314 (GRCm39) V837I probably damaging Het
Usp25 T C 16: 76,880,670 (GRCm39) V677A probably benign Het
Wdr62 A G 7: 29,942,894 (GRCm39) V1001A possibly damaging Het
Whrn A T 4: 63,336,822 (GRCm39) I580N possibly damaging Het
Wls T A 3: 159,616,993 (GRCm39) V344D probably damaging Het
Zan A T 5: 137,385,222 (GRCm39) Y5070* probably null Het
Other mutations in Slc10a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Slc10a1 APN 12 81,007,302 (GRCm39) missense probably benign 0.00
R0212:Slc10a1 UTSW 12 81,014,486 (GRCm39) missense possibly damaging 0.62
R1170:Slc10a1 UTSW 12 81,002,802 (GRCm39) missense probably damaging 1.00
R1261:Slc10a1 UTSW 12 81,014,604 (GRCm39) missense probably damaging 1.00
R1832:Slc10a1 UTSW 12 81,000,446 (GRCm39) missense probably benign 0.23
R2010:Slc10a1 UTSW 12 81,007,221 (GRCm39) missense probably benign 0.00
R2094:Slc10a1 UTSW 12 81,002,822 (GRCm39) missense possibly damaging 0.88
R2206:Slc10a1 UTSW 12 81,014,402 (GRCm39) missense probably damaging 0.99
R3905:Slc10a1 UTSW 12 81,014,441 (GRCm39) missense probably damaging 0.99
R4392:Slc10a1 UTSW 12 81,014,578 (GRCm39) missense probably damaging 1.00
R4413:Slc10a1 UTSW 12 81,004,906 (GRCm39) missense probably benign 0.01
R5173:Slc10a1 UTSW 12 81,002,802 (GRCm39) missense probably damaging 1.00
R5344:Slc10a1 UTSW 12 81,000,540 (GRCm39) missense possibly damaging 0.56
R7173:Slc10a1 UTSW 12 81,002,750 (GRCm39) missense probably damaging 1.00
R7253:Slc10a1 UTSW 12 81,004,958 (GRCm39) missense probably benign 0.16
R7413:Slc10a1 UTSW 12 81,007,396 (GRCm39) missense probably benign 0.00
R7990:Slc10a1 UTSW 12 81,000,554 (GRCm39) missense probably benign 0.01
R8879:Slc10a1 UTSW 12 81,014,369 (GRCm39) missense probably damaging 1.00
R9304:Slc10a1 UTSW 12 81,004,957 (GRCm39) missense probably benign 0.00
R9483:Slc10a1 UTSW 12 81,002,864 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07