Mutagenetix > Incidental Mutation

Incidental Mutation 'R8479:Slc10a2'

660818

Institutional Source

Beutler Lab

Gene Symbol

Slc10a2

Ensembl Gene

ENSMUSG00000023073

Gene Name

solute carrier family 10, member 2

Synonyms

9130221J18Rik, ASBT

MMRRC Submission

067923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8479 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5133219-5155287 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 5148443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023835]

AlphaFold

P70172

Predicted Effect

probably null
Transcript: ENSMUST00000023835

SMART Domains

Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073

Domain	Start	End	E-Value	Type
Pfam:SBF	39	220	1e-47	PFAM
transmembrane domain	226	248	N/A	INTRINSIC
transmembrane domain	286	308	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially indistinguishable from wild-type in terms of survival, gross appearance and behavior. However, they do have defects in lipid absorption from the intestine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,061 (GRCm39)	H241Y	probably benign	Het
Afg3l2	C	T	18: 67,581,986 (GRCm39)	G29D	probably benign	Het
Ano2	T	C	6: 125,689,123 (GRCm39)	S52P	possibly damaging	Het
Atp11a	A	T	8: 12,892,932 (GRCm39)	E641V	possibly damaging	Het
Atp6v1d	T	C	12: 78,896,520 (GRCm39)	T116A	probably benign	Het
Cacna2d2	T	C	9: 107,403,596 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,574,628 (GRCm39)	Y537*	probably null	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cntnap2	C	T	6: 46,736,707 (GRCm39)	A711V	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Crhbp	A	G	13: 95,578,632 (GRCm39)	V163A	possibly damaging	Het
Crmp1	C	A	5: 37,441,502 (GRCm39)	P414Q	possibly damaging	Het
Cse1l	G	A	2: 166,763,893 (GRCm39)	E78K	possibly damaging	Het
Ctnna2	A	G	6: 77,735,573 (GRCm39)	V35A	probably damaging	Het
Ddx1	T	A	12: 13,270,749 (GRCm39)	N654I	probably damaging	Het
Dido1	A	T	2: 180,315,022 (GRCm39)		probably null	Het
Dmtf1	C	T	5: 9,170,428 (GRCm39)	V630I	probably damaging	Het
Ercc6	T	C	14: 32,248,363 (GRCm39)	S305P	probably benign	Het
Ercc6l2	T	A	13: 63,972,629 (GRCm39)	S37T	possibly damaging	Het
Ess2	T	C	16: 17,728,805 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,419,862 (GRCm39)	M138T	probably damaging	Het
Galnt9	T	C	5: 110,692,617 (GRCm39)	V17A	probably benign	Het
Gm7324	T	C	14: 43,952,220 (GRCm39)	S288P	probably benign	Het
Gucy2e	G	A	11: 69,123,789 (GRCm39)	A370V	probably benign	Het
H2-T13	G	A	17: 36,395,111 (GRCm39)	A2V	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Ipo7	G	A	7: 109,638,452 (GRCm39)	V240I	probably benign	Het
Lrrc4c	A	G	2: 97,459,977 (GRCm39)	Y201C	probably damaging	Het
Ly6g2	A	G	15: 75,089,626 (GRCm39)	T45A	probably damaging	Het
Mapkap1	A	T	2: 34,471,302 (GRCm39)	S389C	probably damaging	Het
Met	G	T	6: 17,491,746 (GRCm39)		probably null	Het
Misp	T	C	10: 79,663,750 (GRCm39)	F575L	possibly damaging	Het
Mtmr11	T	C	3: 96,071,051 (GRCm39)	L136P	probably damaging	Het
Muc4	C	T	16: 32,574,799 (GRCm39)	T1128M	possibly damaging	Het
Nfyc	A	T	4: 120,626,089 (GRCm39)	V70E	probably damaging	Het
Nphp4	T	C	4: 152,608,747 (GRCm39)	S452P	probably benign	Het
Oasl2	T	A	5: 115,035,852 (GRCm39)	F43I	probably damaging	Het
Or10ak11	A	G	4: 118,687,212 (GRCm39)	C141R	probably damaging	Het
Or5g25	A	G	2: 85,478,447 (GRCm39)	S73P	probably damaging	Het
Pros1	G	T	16: 62,728,102 (GRCm39)	G269W	probably damaging	Het
Rif1	A	C	2: 52,002,563 (GRCm39)	S2006R	possibly damaging	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rragd	C	T	4: 33,018,734 (GRCm39)	A379V	probably benign	Het
Susd3	C	T	13: 49,390,952 (GRCm39)	G113S	probably benign	Het
Tbc1d19	T	A	5: 54,041,031 (GRCm39)	M371K	possibly damaging	Het
Tnn	C	A	1: 159,950,397 (GRCm39)	R736S	probably benign	Het
Trio	T	C	15: 27,901,286 (GRCm39)	T323A	probably benign	Het
Ubqln1	G	A	13: 58,339,653 (GRCm39)	P324S	probably benign	Het
Uspl1	T	C	5: 149,152,004 (GRCm39)	L1068P	probably damaging	Het
Vmn2r86	A	T	10: 130,282,735 (GRCm39)	I627N	probably damaging	Het
Wdr35	C	A	12: 9,035,985 (GRCm39)	T252K	probably benign	Het
Zfp62	T	C	11: 49,107,319 (GRCm39)	I470T	probably damaging	Het

Other mutations in Slc10a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Slc10a2	APN	8	5,141,667 (GRCm39)	missense	probably benign	0.00
IGL00504:Slc10a2	APN	8	5,141,668 (GRCm39)	missense	probably damaging	0.96
IGL00596:Slc10a2	APN	8	5,141,680 (GRCm39)	missense	probably benign	0.00
IGL01472:Slc10a2	APN	8	5,141,652 (GRCm39)	missense	probably damaging	1.00
IGL02679:Slc10a2	APN	8	5,148,499 (GRCm39)	missense	probably damaging	1.00
gall	UTSW	8	5,141,621 (GRCm39)	critical splice donor site	probably null
R0560:Slc10a2	UTSW	8	5,139,092 (GRCm39)	missense	probably benign	0.02
R0629:Slc10a2	UTSW	8	5,148,562 (GRCm39)	missense	probably benign	0.30
R0743:Slc10a2	UTSW	8	5,139,132 (GRCm39)	missense	probably damaging	0.99
R0970:Slc10a2	UTSW	8	5,155,115 (GRCm39)	missense	probably benign	0.00
R1033:Slc10a2	UTSW	8	5,154,889 (GRCm39)	missense	probably damaging	0.99
R1557:Slc10a2	UTSW	8	5,141,755 (GRCm39)	missense	probably damaging	1.00
R1808:Slc10a2	UTSW	8	5,154,856 (GRCm39)	missense	probably damaging	0.96
R3620:Slc10a2	UTSW	8	5,154,909 (GRCm39)	missense	probably damaging	0.99
R4084:Slc10a2	UTSW	8	5,139,126 (GRCm39)	missense	possibly damaging	0.71
R4112:Slc10a2	UTSW	8	5,155,135 (GRCm39)	missense	probably benign
R5693:Slc10a2	UTSW	8	5,155,128 (GRCm39)	missense	probably damaging	1.00
R6294:Slc10a2	UTSW	8	5,141,621 (GRCm39)	critical splice donor site	probably null
R6459:Slc10a2	UTSW	8	5,148,581 (GRCm39)	splice site	probably null
R7442:Slc10a2	UTSW	8	5,139,086 (GRCm39)	missense	possibly damaging	0.80
R8822:Slc10a2	UTSW	8	5,139,149 (GRCm39)	missense	probably damaging	1.00
R9075:Slc10a2	UTSW	8	5,155,267 (GRCm39)	start gained	probably benign
R9255:Slc10a2	UTSW	8	5,148,565 (GRCm39)	missense	probably benign	0.00
R9493:Slc10a2	UTSW	8	5,139,047 (GRCm39)	missense
Z1177:Slc10a2	UTSW	8	5,148,448 (GRCm39)	missense	probably damaging	1.00
Z1188:Slc10a2	UTSW	8	5,155,063 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCTCAGGGCAGATGATTAGG -3'
(R):5'- CTAGTTGAGTCTGATGCTCACAG -3'

Sequencing Primer
(F):5'- TCCCATGTTAATTTGAACTGAGAC -3'
(R):5'- GTTAGCATGACCACTTGC -3'

Posted On

2021-03-05