Mutagenetix > Incidental Mutation

Incidental Mutation 'R1832:Slc10a1'

204888

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

039859-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80999959-81015479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81000446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 351 (S351F)

Ref Sequence

ENSEMBL: ENSMUSP00000151555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094693] [ENSMUST00000095572] [ENSMUST00000110351] [ENSMUST00000110352] [ENSMUST00000110354] [ENSMUST00000110356] [ENSMUST00000218162] [ENSMUST00000220266] [ENSMUST00000218342]

AlphaFold

O08705

Predicted Effect

probably benign
Transcript: ENSMUST00000094693

SMART Domains

Protein: ENSMUSP00000131323
Gene: ENSMUSG00000021134

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095572
AA Change: S351F

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093229
Gene: ENSMUSG00000021135
AA Change: S351F

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: ENSMUST00000110351

SMART Domains

Protein: ENSMUSP00000105980
Gene: ENSMUSG00000021134

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	231	N/A	INTRINSIC
low complexity region	236	268	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110352

SMART Domains

Protein: ENSMUSP00000105981
Gene: ENSMUSG00000021134

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110354

SMART Domains

Protein: ENSMUSP00000105983
Gene: ENSMUSG00000021134

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	231	N/A	INTRINSIC
low complexity region	236	268	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110356

SMART Domains

Protein: ENSMUSP00000105985
Gene: ENSMUSG00000021134

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153056

Predicted Effect

probably benign
Transcript: ENSMUST00000218162
AA Change: S351F

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000220266

Predicted Effect

probably benign
Transcript: ENSMUST00000218342

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.7%

Validation Efficiency

100% (82/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
Abca8a	A	T	11: 109,962,277 (GRCm39)	N525K	probably damaging	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adamts20	A	T	15: 94,184,225 (GRCm39)	M1526K	probably benign	Het
Ankdd1a	A	T	9: 65,411,771 (GRCm39)		probably null	Het
Ankrd1	C	T	19: 36,092,378 (GRCm39)	C283Y	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Bhlhe22	G	A	3: 18,109,139 (GRCm39)	C63Y	probably damaging	Het
Bmp8a	A	T	4: 123,218,885 (GRCm39)		probably benign	Het
Ccdc148	A	T	2: 58,891,911 (GRCm39)	S235T	probably damaging	Het
Ccdc88b	G	A	19: 6,830,900 (GRCm39)	Q681*	probably null	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Chac2	T	C	11: 30,927,568 (GRCm39)	N117S	probably benign	Het
Cimap3	C	T	3: 105,921,912 (GRCm39)	E4K	possibly damaging	Het
Cldn8	T	A	16: 88,359,746 (GRCm39)	I60F	probably benign	Het
Col16a1	G	A	4: 129,970,850 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,264,644 (GRCm39)		probably benign	Het
Cyp2a4	G	T	7: 26,011,635 (GRCm39)	E285D	probably damaging	Het
Cyp4a31	G	A	4: 115,426,928 (GRCm39)	G176D	probably benign	Het
Dmxl2	A	C	9: 54,368,233 (GRCm39)	Y246D	probably damaging	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Dync2i1	T	A	12: 116,171,363 (GRCm39)	S958C	probably damaging	Het
Eif3h	T	C	15: 51,728,832 (GRCm39)	T8A	possibly damaging	Het
Fbh1	G	T	2: 11,772,211 (GRCm39)	L157I	probably benign	Het
Fbxo40	C	A	16: 36,789,218 (GRCm39)	G631*	probably null	Het
Gabrb1	T	A	5: 72,279,281 (GRCm39)		probably null	Het
Galc	A	G	12: 98,200,499 (GRCm39)		probably null	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Igkv13-54-1	A	T	6: 69,594,277 (GRCm39)	M31L	probably benign	Het
Lamc2	C	T	1: 153,041,933 (GRCm39)	R67Q	possibly damaging	Het
Lcn10	A	G	2: 25,575,151 (GRCm39)	D173G	probably damaging	Het
Llgl2	G	T	11: 115,741,926 (GRCm39)	R656L	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ly6d	T	C	15: 74,634,615 (GRCm39)	K46E	probably damaging	Het
Map3k5	A	G	10: 19,975,306 (GRCm39)	N88D	probably damaging	Het
Mertk	A	T	2: 128,604,132 (GRCm39)	E422V	probably benign	Het
Mixl1	A	G	1: 180,522,296 (GRCm39)	V195A	probably benign	Het
Nmnat3	T	C	9: 98,281,521 (GRCm39)	V41A	probably damaging	Het
Or1r1	A	T	11: 73,875,319 (GRCm39)	N38K	probably damaging	Het
Or2a7	A	G	6: 43,151,834 (GRCm39)	R305G	probably benign	Het
Or7g34	A	G	9: 19,478,492 (GRCm39)	Y63H	possibly damaging	Het
Pappa2	T	A	1: 158,684,886 (GRCm39)	E751V	probably damaging	Het
Pcsk2	A	G	2: 143,635,189 (GRCm39)	S355G	probably damaging	Het
Pdzd2	A	G	15: 12,390,134 (GRCm39)	V821A	probably damaging	Het
Plxna4	A	C	6: 32,174,761 (GRCm39)	D1109E	probably benign	Het
Ppard	A	G	17: 28,516,084 (GRCm39)	M103V	probably benign	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,752 (GRCm39)	T515A	probably benign	Het
Rin2	A	G	2: 145,703,091 (GRCm39)	I596V	possibly damaging	Het
Rnls	A	G	19: 33,145,895 (GRCm39)	S75P	possibly damaging	Het
Rsph10b	A	T	5: 143,903,997 (GRCm39)	Y236F	possibly damaging	Het
Runx1t1	C	T	4: 13,835,628 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,125,581 (GRCm39)	V311A	possibly damaging	Het
Sbno2	G	T	10: 79,896,439 (GRCm39)	Y889*	probably null	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4g	T	A	19: 44,987,456 (GRCm39)	V534E	probably benign	Het
Shoc1	T	G	4: 59,066,441 (GRCm39)	I768L	probably benign	Het
Slc19a3	A	T	1: 83,000,468 (GRCm39)	V183E	probably damaging	Het
Slc25a12	A	G	2: 71,164,054 (GRCm39)	Y74H	possibly damaging	Het
Slc6a19	T	A	13: 73,841,069 (GRCm39)	I114L	probably benign	Het
Smpd2	A	T	10: 41,364,232 (GRCm39)	C189S	probably benign	Het
Spon1	T	A	7: 113,616,018 (GRCm39)	V295D	probably benign	Het
Tet3	A	G	6: 83,380,627 (GRCm39)	S514P	probably benign	Het
Tnk1	T	C	11: 69,747,754 (GRCm39)	I49M	probably damaging	Het
Trim80	A	G	11: 115,337,619 (GRCm39)	T431A	probably benign	Het
Vgf	A	T	5: 137,060,153 (GRCm39)	Q105L	possibly damaging	Het
Vmn1r37	G	T	6: 66,708,780 (GRCm39)	L135F	probably benign	Het
Vps37d	C	T	5: 135,102,594 (GRCm39)	A128T	possibly damaging	Het
Wwp1	T	C	4: 19,650,197 (GRCm39)	D323G	probably benign	Het
Zfp456	T	A	13: 67,515,482 (GRCm39)	I75L	probably benign	Het
Zfp990	A	G	4: 145,264,780 (GRCm39)	I593V	possibly damaging	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
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'- ATGGTTCCTGGATAGATGCCC -3'
(R):5'- CATGCTACTATTCTACTGCTGAGC -3'

Sequencing Primer
(F):5'- GGATAGATGCCCTTCTGCCTCAG -3'
(R):5'- CTGAGCTTACAATTTCAGAGGGC -3'

Posted On

2014-06-23