Mutagenetix > Incidental Mutation

Incidental Mutation 'R1033:Slc10a2'

95266

Institutional Source

Beutler Lab

Gene Symbol

Slc10a2

Ensembl Gene

ENSMUSG00000023073

Gene Name

solute carrier family 10, member 2

Synonyms

9130221J18Rik, ASBT

MMRRC Submission

039132-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5133219-5155287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5154889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 99 (V99M)

Ref Sequence

ENSEMBL: ENSMUSP00000023835 (fasta)

Gene Model

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

AlphaFold

P70172

Predicted Effect

probably damaging
Transcript: ENSMUST00000023835
AA Change: V99M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: V99M

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.7%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Akap6	A	C	12: 53,116,005 (GRCm39)	D1036A	probably damaging	Het
Alg6	T	C	4: 99,650,270 (GRCm39)	S497P	probably benign	Het
Arhgap10	T	A	8: 77,983,976 (GRCm39)	I700L	possibly damaging	Het
Atp11a	A	G	8: 12,878,555 (GRCm39)	Y377C	probably damaging	Het
Atp2b2	A	T	6: 113,770,849 (GRCm39)		probably null	Het
Card14	T	A	11: 119,229,196 (GRCm39)	V702D	probably damaging	Het
Ccdc17	C	T	4: 116,454,077 (GRCm39)	R32*	probably null	Het
Cdh20	A	T	1: 110,012,783 (GRCm39)	D372V	probably damaging	Het
Cfap54	A	T	10: 92,675,311 (GRCm39)	I2870N	probably benign	Het
Cped1	G	T	6: 22,016,950 (GRCm39)	V100F	probably damaging	Het
Dapk1	T	C	13: 60,869,679 (GRCm39)		probably null	Het
Exoc4	G	A	6: 33,242,922 (GRCm39)	G45D	probably damaging	Het
Fam110b	A	T	4: 5,799,440 (GRCm39)	N286I	probably benign	Het
Fbxo10	A	T	4: 45,062,236 (GRCm39)	C97S	probably damaging	Het
Frem3	A	T	8: 81,421,786 (GRCm39)	H2062L	probably benign	Het
Frk	T	C	10: 34,484,454 (GRCm39)	C476R	probably damaging	Het
Gm10542	A	G	18: 44,337,668 (GRCm39)	T49A	probably benign	Het
Gm128	A	G	3: 95,147,322 (GRCm39)	V324A	possibly damaging	Het
Gpr141	C	T	13: 19,935,880 (GRCm39)	M298I	probably benign	Het
Gxylt1	T	C	15: 93,142,958 (GRCm39)	E369G	probably benign	Het
Hpse2	A	G	19: 42,901,638 (GRCm39)	V368A	probably benign	Het
Ice1	A	T	13: 70,754,713 (GRCm39)	S458T	probably damaging	Het
Itgb7	T	A	15: 102,131,989 (GRCm39)	D198V	probably damaging	Het
Kcnk10	A	G	12: 98,484,929 (GRCm39)	V72A	possibly damaging	Het
Magel2	A	G	7: 62,029,798 (GRCm39)	M901V	unknown	Het
Mgam	A	T	6: 40,657,558 (GRCm39)	Y971F	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mug1	A	T	6: 121,857,510 (GRCm39)	D1078V	probably damaging	Het
Myom2	G	A	8: 15,158,934 (GRCm39)	R870H	probably benign	Het
Nek8	A	T	11: 78,062,111 (GRCm39)	L71Q	probably null	Het
Nox4	T	A	7: 87,023,621 (GRCm39)	D502E	probably damaging	Het
Nsmaf	G	A	4: 6,438,054 (GRCm39)	P73S	probably damaging	Het
Nup205	C	T	6: 35,204,377 (GRCm39)	A1421V	probably benign	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or1p1	A	C	11: 74,179,492 (GRCm39)	T7P	probably damaging	Het
Or3a1	A	C	11: 74,225,462 (GRCm39)	N198K	possibly damaging	Het
Or4k38	A	T	2: 111,166,147 (GRCm39)	I92N	probably damaging	Het
Or5al7	A	G	2: 85,993,194 (GRCm39)	I33T	possibly damaging	Het
Pals2	T	C	6: 50,160,716 (GRCm39)	Y326H	probably damaging	Het
Prkdc	T	C	16: 15,585,815 (GRCm39)	L2451P	probably damaging	Het
Rad51ap2	C	T	12: 11,506,252 (GRCm39)	S58F	probably damaging	Het
Rbbp8	A	G	18: 11,875,762 (GRCm39)	R892G	probably benign	Het
Rock1	A	G	18: 10,067,535 (GRCm39)	S1333P	probably benign	Het
Rpl7	A	G	1: 16,172,728 (GRCm39)	I197T	probably benign	Het
Sar1a	C	A	10: 61,521,395 (GRCm39)	Q81K	probably damaging	Het
Shank1	A	T	7: 44,006,220 (GRCm39)	H1979L	possibly damaging	Het
Slc22a30	G	A	19: 8,313,165 (GRCm39)	Q436*	probably null	Het
Spata31e2	G	A	1: 26,721,466 (GRCm39)	P1238L	probably benign	Het
Speer4a2	T	C	5: 26,294,125 (GRCm39)	K18E	probably benign	Het
Szt2	C	T	4: 118,244,303 (GRCm39)	R1305H	probably damaging	Het
Ubash3a	G	A	17: 31,427,186 (GRCm39)	G32S	probably damaging	Het
Vmn1r200	G	A	13: 22,580,060 (GRCm39)	D279N	probably damaging	Het
Zbtb8a	T	C	4: 129,248,014 (GRCm39)	D419G	possibly 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
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
R8479:Slc10a2	UTSW	8	5,148,443 (GRCm39)	splice site	probably null
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'- GCACATGGATGCACTTACTCTTCCC -3'
(R):5'- AACTGTCTGCGAAGGCGATTCCTG -3'

Sequencing Primer
(F):5'- CCTTAGACATTTAGTCAGTGCAGC -3'
(R):5'- GTACCTGAGAGCAACTTCAATG -3'

Posted On

2014-01-05