Incidental Mutation 'R1261:Slc10a1'
ID 151608
Institutional Source Beutler Lab
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
MMRRC Submission 039328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1261 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 80999959-81015479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81014604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 39 (M39L)
Ref Sequence ENSEMBL: ENSMUSP00000151215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095572] [ENSMUST00000218162] [ENSMUST00000218342] [ENSMUST00000220266]
AlphaFold O08705
Predicted Effect probably damaging
Transcript: ENSMUST00000095572
AA Change: M39L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093229
Gene: ENSMUSG00000021135
AA Change: M39L

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 probably damaging
Transcript: ENSMUST00000218162
AA Change: M39L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000218342
AA Change: M39L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220266
AA Change: M39L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.0%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,912,470 (GRCm39) V114A probably benign Het
Arhgef38 T C 3: 132,866,624 (GRCm39) E171G possibly damaging Het
Arsi A G 18: 61,049,743 (GRCm39) T209A probably damaging Het
Bmp3 A T 5: 99,027,785 (GRCm39) R468S probably damaging Het
Cenpk T A 13: 104,367,293 (GRCm39) V43E possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 G T 17: 46,836,708 (GRCm39) L1106M probably damaging Het
Dnajc9 G A 14: 20,438,765 (GRCm39) probably null Het
Enpp3 A T 10: 24,650,832 (GRCm39) V768E probably damaging Het
Klk1b5 T C 7: 43,494,714 (GRCm39) S66P probably damaging Het
Lrriq1 T C 10: 103,069,998 (GRCm39) D6G possibly damaging Het
Myh7b A G 2: 155,463,003 (GRCm39) K453R probably benign Het
Nipsnap3b G T 4: 53,015,166 (GRCm39) G71V probably damaging Het
Oas1h A G 5: 121,009,930 (GRCm39) E335G probably benign Het
Or5g25 A C 2: 85,478,143 (GRCm39) I174S probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Tas1r2 G A 4: 139,382,599 (GRCm39) R79Q probably damaging Het
Thoc2l A G 5: 104,668,501 (GRCm39) T1008A probably damaging Het
Tmprss11d T C 5: 86,457,239 (GRCm39) D140G possibly damaging Het
Other mutations in Slc10a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Slc10a1 APN 12 81,007,302 (GRCm39) missense probably benign 0.00
IGL02065:Slc10a1 APN 12 81,007,248 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AGATCATGACATCTCGGCAGCAC -3'
(R):5'- TGCCCACAGCTACATTTTGTCCAG -3'

Sequencing Primer
(F):5'- AGAGGTTAGACAGGTTCCCC -3'
(R):5'- CTCTGTCCTGAAAGAGGACTG -3'
Posted On 2014-01-29