Mutagenetix > Incidental Mutation

Incidental Mutation 'R2094:Slc10a1'

231985

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

040098-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80999959-81015479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81002822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 272 (V272A)

Ref Sequence

ENSEMBL: ENSMUSP00000151215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095572] [ENSMUST00000218162] [ENSMUST00000218342] [ENSMUST00000220266]

AlphaFold

O08705

Predicted Effect

probably benign
Transcript: ENSMUST00000095572
AA Change: V272A

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093229
Gene: ENSMUSG00000021135
AA Change: V272A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000218162
AA Change: V272A

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218342
AA Change: V272A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000220266

Meta Mutation Damage Score

0.1018

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,154 (GRCm39)	I169V	probably benign	Het
Arrdc5	A	G	17: 56,604,856 (GRCm39)	S144P	probably benign	Het
Astn1	A	G	1: 158,495,179 (GRCm39)	M92V	probably benign	Het
Atg5	A	G	10: 44,195,544 (GRCm39)	I189M	probably damaging	Het
Atmin	A	G	8: 117,684,277 (GRCm39)	T646A	probably damaging	Het
Atp1a2	G	A	1: 172,115,000 (GRCm39)	R262W	probably damaging	Het
Atp6v1g2	A	G	17: 35,455,785 (GRCm39)	K16E	probably damaging	Het
Bex6	G	A	16: 32,005,278 (GRCm39)	E29K	possibly damaging	Het
Casd1	A	G	6: 4,608,705 (GRCm39)	Y101C	probably damaging	Het
Ccdc168	A	C	1: 44,098,890 (GRCm39)	I736S	probably benign	Het
Cdx1	T	C	18: 61,168,984 (GRCm39)	D70G	possibly damaging	Het
Cebpz	T	C	17: 79,242,983 (GRCm39)	T224A	probably benign	Het
Cep170b	T	C	12: 112,702,164 (GRCm39)	V319A	possibly damaging	Het
Chrna2	C	T	14: 66,386,912 (GRCm39)	R353W	possibly damaging	Het
Chst5	A	T	8: 112,617,176 (GRCm39)	V148E	probably benign	Het
Clhc1	T	A	11: 29,507,771 (GRCm39)	W162R	probably benign	Het
Csmd1	T	A	8: 16,129,992 (GRCm39)	Q1710L	probably damaging	Het
Ddb1	A	C	19: 10,590,300 (GRCm39)	M276L	probably benign	Het
Dot1l	C	T	10: 80,621,712 (GRCm39)	R455C	probably damaging	Het
Dync2h1	A	G	9: 7,148,735 (GRCm39)	V903A	probably benign	Het
Eno1b	T	C	18: 48,180,542 (GRCm39)	V240A	possibly damaging	Het
Erich1	T	G	8: 14,140,527 (GRCm39)		probably benign	Het
Ermp1	A	C	19: 29,617,328 (GRCm39)	S227A	probably benign	Het
Etv1	C	A	12: 38,885,115 (GRCm39)	P143Q	probably null	Het
Gimap8	A	T	6: 48,627,502 (GRCm39)	I159F	probably benign	Het
Gpr4	G	A	7: 18,956,503 (GRCm39)	V142M	possibly damaging	Het
Gucy1a1	C	T	3: 82,020,639 (GRCm39)	C86Y	probably benign	Het
Ifngr2	T	G	16: 91,358,667 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,710,488 (GRCm39)	N398I	probably damaging	Het
Iws1	A	G	18: 32,217,719 (GRCm39)	E441G	probably damaging	Het
Larp7-ps	A	G	4: 92,079,893 (GRCm39)	S32P	probably damaging	Het
Megf10	A	T	18: 57,414,785 (GRCm39)	K732*	probably null	Het
Mprip	T	A	11: 59,640,334 (GRCm39)		probably benign	Het
Mrgprb8	T	C	7: 48,038,953 (GRCm39)	V208A	probably benign	Het
Msc	G	C	1: 14,825,908 (GRCm39)	P22R	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Or4k15b	A	T	14: 50,272,171 (GRCm39)	S230T	probably damaging	Het
Oxsr1	A	C	9: 119,123,560 (GRCm39)	H71Q	probably benign	Het
Pkp2	T	A	16: 16,064,831 (GRCm39)	W452R	probably damaging	Het
Prrc2b	C	T	2: 32,072,582 (GRCm39)	T20I	probably damaging	Het
Rasgrp3	T	C	17: 75,810,136 (GRCm39)	S279P	probably damaging	Het
Rtl1	T	A	12: 109,557,831 (GRCm39)	D1336V	unknown	Het
Serpina3m	G	T	12: 104,355,529 (GRCm39)	K65N	probably benign	Het
Serpine2	A	G	1: 79,788,411 (GRCm39)	V182A	probably damaging	Het
Slc25a29	A	T	12: 108,793,358 (GRCm39)	N73K	probably damaging	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Srrm2	T	C	17: 24,031,403 (GRCm39)		probably benign	Het
Stk11ip	A	G	1: 75,502,165 (GRCm39)		probably benign	Het
Tcerg1	A	G	18: 42,697,210 (GRCm39)	K767R	possibly damaging	Het
Tmem82	T	C	4: 141,343,598 (GRCm39)	K224R	probably benign	Het
Tmprss11g	A	G	5: 86,647,415 (GRCm39)	L41S	probably damaging	Het
Trim42	T	C	9: 97,248,150 (GRCm39)	N182S	probably benign	Het
Ttn	T	C	2: 76,660,432 (GRCm39)	T7430A	probably benign	Het
Wwp1	T	C	4: 19,650,390 (GRCm39)	T259A	probably benign	Het

Other mutations in Slc10a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CGCTGGCATGCTGTTTTACC -3'
(R):5'- GATCCCATCTTCCAATGCTGG -3'

Sequencing Primer
(F):5'- TTGGTAGCTCAGGTCCAGAG -3'
(R):5'- CAATGCTGGATGCTGTAGGTCTAAAG -3'

Posted On

2014-09-18