Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Slc10a2'

88317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc10a2

Ensembl Gene

ENSMUSG00000023073

Gene Name

solute carrier family 10, member 2

Synonyms

9130221J18Rik, ASBT

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

5133219-5155287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5141652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 244 (L244P)

Ref Sequence

ENSEMBL: ENSMUSP00000023835 (fasta)

Gene Model

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

AlphaFold

P70172

Predicted Effect

probably damaging
Transcript: ENSMUST00000023835
AA Change: L244P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: L244P

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	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
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
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

Posted On

2013-11-18