Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Slc10a1'

326428

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

041127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80999959-81015479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 81014578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 47 (E47D)

Ref Sequence

ENSEMBL: ENSMUSP00000151510 (fasta)

Gene Model

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

AlphaFold

O08705

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095572
AA Change: E47D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093229
Gene: ENSMUSG00000021135
AA Change: E47D

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

possibly damaging
Transcript: ENSMUST00000218162
AA Change: E47D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218342
AA Change: E47D

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220266
AA Change: E47D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.3047

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,822,435 (GRCm39)		probably null	Het
Abca13	A	C	11: 9,259,034 (GRCm39)	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,056,724 (GRCm39)		noncoding transcript	Het
Anapc1	T	C	2: 128,518,169 (GRCm39)		probably null	Het
Bmp7	T	G	2: 172,758,335 (GRCm39)	D178A	probably benign	Het
Brsk1	T	A	7: 4,701,749 (GRCm39)	I170N	probably damaging	Het
Bub3	C	T	7: 131,168,064 (GRCm39)	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,277,479 (GRCm39)	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,842,179 (GRCm39)	K20N	probably benign	Het
Clec12a	A	T	6: 129,330,427 (GRCm39)		probably benign	Het
Col12a1	T	A	9: 79,569,770 (GRCm39)	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 26,728,700 (GRCm39)	I57N	probably damaging	Het
Dip2b	T	C	15: 100,059,917 (GRCm39)	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,375 (GRCm39)	R1188H	probably benign	Het
Dop1a	T	C	9: 86,385,196 (GRCm39)		probably benign	Het
Efcab5	T	A	11: 76,981,284 (GRCm39)	N1354I	probably damaging	Het
Eif4b	T	A	15: 101,995,076 (GRCm39)		probably null	Het
Erlec1	A	G	11: 30,893,697 (GRCm39)		probably null	Het
Esp24	T	C	17: 39,350,968 (GRCm39)		probably benign	Het
Esp34	T	C	17: 38,870,382 (GRCm39)	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,397,300 (GRCm39)		probably benign	Het
Foxc2	T	C	8: 121,844,191 (GRCm39)	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Grk3	A	G	5: 113,068,002 (GRCm39)	F467S	probably damaging	Het
Grwd1	C	T	7: 45,477,204 (GRCm39)	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,289,483 (GRCm39)	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Ift56	A	G	6: 38,358,492 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,585,880 (GRCm39)	Y83H	probably damaging	Het
Mdga1	T	C	17: 30,069,630 (GRCm39)	T413A	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mmrn2	T	A	14: 34,119,573 (GRCm39)	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,187,311 (GRCm39)	R133C	probably damaging	Het
Myh13	A	C	11: 67,235,707 (GRCm39)		probably null	Het
Nkain3	C	A	4: 20,282,985 (GRCm39)	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,290,284 (GRCm39)	Q212P	probably damaging	Het
Or4f7d-ps1	T	C	2: 111,674,690 (GRCm39)		noncoding transcript	Het
Or4k15c	A	G	14: 50,322,060 (GRCm39)	F26S	probably benign	Het
Otog	T	C	7: 45,934,548 (GRCm39)	Y1369H	probably damaging	Het
Prl	A	G	13: 27,248,334 (GRCm39)	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467 (GRCm38)	I373F	possibly damaging	Het
Rad18	A	T	6: 112,670,490 (GRCm39)	C25S	probably damaging	Het
Rgs12	A	G	5: 35,189,655 (GRCm39)	T678A	probably damaging	Het
Scaper	T	A	9: 55,765,399 (GRCm39)	E557V	probably damaging	Het
Scube3	C	T	17: 28,383,762 (GRCm39)	P511L	probably null	Het
Sgpl1	A	G	10: 60,940,231 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,117,896 (GRCm39)	N369S	probably damaging	Het
Sstr5	T	C	17: 25,710,198 (GRCm39)	T344A	probably benign	Het
Tgm4	C	T	9: 122,895,817 (GRCm39)	T631I	probably benign	Het
Tmprss15	A	G	16: 78,821,326 (GRCm39)	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,637,429 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,690,458 (GRCm39)	W207R	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Usp2	A	T	9: 44,002,556 (GRCm39)	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,207,135 (GRCm39)	V169I	probably benign	Het
Vopp1	A	C	6: 57,739,461 (GRCm39)	F29C	probably damaging	Het
Wrn	T	C	8: 33,741,860 (GRCm39)	D953G	probably damaging	Het
Zfp759	T	A	13: 67,287,707 (GRCm39)	C419*	probably null	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
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
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'- TTCATGGCCAGGGTGAAGAG -3'
(R):5'- TTGTCCAGAAACTCTGTCCTG -3'

Sequencing Primer
(F):5'- AAGAGGTTAGACAGGTTCCCCC -3'
(R):5'- TGTCCAGAAACTCTGTCCTGAAAGAG -3'

Posted On

2015-07-06