Mutagenetix > Incidental Mutation

Incidental Mutation 'R1557:Slc10a2'

170347

Institutional Source

Beutler Lab

Gene Symbol

Slc10a2

Ensembl Gene

ENSMUSG00000023073

Gene Name

solute carrier family 10, member 2

Synonyms

9130221J18Rik, ASBT

MMRRC Submission

039596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5133219-5155287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5141755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 210 (V210M)

Ref Sequence

ENSEMBL: ENSMUSP00000023835 (fasta)

Gene Model

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

AlphaFold

P70172

Predicted Effect

probably damaging
Transcript: ENSMUST00000023835
AA Change: V210M

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

SMART Domains

Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: V210M

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

Meta Mutation Damage Score

0.3248

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (75/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	C	1: 53,221,025 (GRCm39)	D68E	possibly damaging	Het
Abca3	T	C	17: 24,618,954 (GRCm39)	V870A	possibly damaging	Het
Aldh3a2	A	T	11: 61,139,885 (GRCm39)	F416I	probably damaging	Het
Armc6	A	T	8: 70,678,098 (GRCm39)	L77Q	possibly damaging	Het
Asb17	A	G	3: 153,556,570 (GRCm39)	I226V	probably benign	Het
Aspm	A	G	1: 139,396,406 (GRCm39)	I862V	probably benign	Het
Atr	T	A	9: 95,753,502 (GRCm39)	D701E	probably damaging	Het
Baz1b	C	T	5: 135,247,097 (GRCm39)	L849F	possibly damaging	Het
Cbr1	T	C	16: 93,405,677 (GRCm39)	V97A	probably benign	Het
Cep295	G	A	9: 15,243,306 (GRCm39)	Q1669*	probably null	Het
Cfap54	T	C	10: 92,820,089 (GRCm39)	T1242A	possibly damaging	Het
Chrm3	T	A	13: 9,928,350 (GRCm39)	T229S	possibly damaging	Het
Cimip4	C	A	15: 78,270,474 (GRCm39)	R98M	probably damaging	Het
Cnga3	A	G	1: 37,300,066 (GRCm39)	Y300C	probably damaging	Het
Col14a1	A	C	15: 55,251,975 (GRCm39)	I544L	unknown	Het
Crocc	T	C	4: 140,752,776 (GRCm39)	E1208G	probably damaging	Het
Cyp2j8	A	T	4: 96,358,713 (GRCm39)		probably benign	Het
Dcbld2	T	C	16: 58,285,713 (GRCm39)	I624T	possibly damaging	Het
Ddah1	A	C	3: 145,597,227 (GRCm39)	I258L	probably benign	Het
Dnah6	G	A	6: 73,026,114 (GRCm39)	Q3460*	probably null	Het
Dync2h1	T	A	9: 7,140,911 (GRCm39)	D1372V	probably damaging	Het
Egln1	G	A	8: 125,674,980 (GRCm39)	R272*	probably null	Het
Elf1	A	G	14: 79,804,620 (GRCm39)	D95G	possibly damaging	Het
Fkbp5	A	G	17: 28,621,729 (GRCm39)	F374L	probably damaging	Het
Fli1	T	C	9: 32,372,540 (GRCm39)		probably benign	Het
Gabbr2	T	C	4: 46,846,436 (GRCm39)	T158A	probably damaging	Het
Gp2	A	C	7: 119,049,302 (GRCm39)	Y412D	probably damaging	Het
Hmcn1	A	G	1: 150,610,283 (GRCm39)	V1462A	possibly damaging	Het
Ide	T	C	19: 37,258,160 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,134,648 (GRCm39)	K372R	possibly damaging	Het
Kcnj16	A	G	11: 110,916,067 (GRCm39)	D243G	possibly damaging	Het
Kif7	A	G	7: 79,363,905 (GRCm39)	M1T	probably null	Het
Klri2	A	T	6: 129,709,174 (GRCm39)	L226Q	probably damaging	Het
Kremen1	T	C	11: 5,165,373 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,788 (GRCm39)		probably benign	Het
Lmln	C	A	16: 32,908,581 (GRCm39)	R336S	probably benign	Het
Lrch4	T	A	5: 137,635,818 (GRCm39)	D266E	probably benign	Het
Lrrc28	C	T	7: 67,209,677 (GRCm39)	R174H	probably damaging	Het
Mib1	T	A	18: 10,798,474 (GRCm39)	D778E	probably damaging	Het
Msra	T	C	14: 64,360,775 (GRCm39)	I125V	possibly damaging	Het
Or10c1	A	G	17: 37,522,244 (GRCm39)	F167L	probably damaging	Het
Or4k37	T	A	2: 111,158,964 (GRCm39)	S67T	probably damaging	Het
Or4p19	A	T	2: 88,242,555 (GRCm39)	V149E	possibly damaging	Het
Or52e18	A	G	7: 104,609,747 (GRCm39)	F64S	probably damaging	Het
Or6c75	C	A	10: 129,337,491 (GRCm39)	T246N	probably damaging	Het
Or8d23	A	G	9: 38,841,955 (GRCm39)	M163V	possibly damaging	Het
Pes1	T	A	11: 3,926,824 (GRCm39)	Y369N	probably damaging	Het
Pgam2	T	C	11: 5,751,773 (GRCm39)	D221G	possibly damaging	Het
Prl2c5	T	C	13: 13,365,265 (GRCm39)	V137A	possibly damaging	Het
Rasal1	T	A	5: 120,814,914 (GRCm39)	D721E	possibly damaging	Het
Sass6	G	T	3: 116,412,381 (GRCm39)	E385D	possibly damaging	Het
Sema5a	A	G	15: 32,460,418 (GRCm39)	R60G	probably benign	Het
Sesn1	T	C	10: 41,779,762 (GRCm39)	S399P	probably damaging	Het
Skic2	G	A	17: 35,067,398 (GRCm39)	L47F	probably damaging	Het
Slc8a3	C	T	12: 81,362,331 (GRCm39)	G163S	probably damaging	Het
Sorbs2	T	C	8: 46,212,234 (GRCm39)		probably benign	Het
Speer4f1	T	C	5: 17,684,490 (GRCm39)	W173R	probably damaging	Het
Spon2	C	A	5: 33,374,108 (GRCm39)	G92W	probably damaging	Het
Sycp2	A	T	2: 178,037,009 (GRCm39)		probably benign	Het
Tfb1m	A	G	17: 3,605,241 (GRCm39)	V84A	probably damaging	Het
Tmem18	G	T	12: 30,637,198 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,210 (GRCm39)	L290S	possibly damaging	Het
Tube1	T	G	10: 39,021,711 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,156 (GRCm39)		probably null	Het
Unc93b1	T	A	19: 3,992,403 (GRCm39)	Y269N	probably benign	Het
Usp16	T	C	16: 87,259,030 (GRCm39)		probably null	Het
Vmn1r38	A	T	6: 66,753,370 (GRCm39)	S249T	probably benign	Het
Vmn1r42	T	A	6: 89,821,733 (GRCm39)	M279L	possibly damaging	Het
Zdhhc23	T	A	16: 43,791,829 (GRCm39)	T315S	possibly damaging	Het
Zfp472	T	C	17: 33,194,900 (GRCm39)	F12L	probably benign	Het
Zfr2	T	C	10: 81,083,225 (GRCm39)	S634P	probably benign	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
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'- TGTTTCGTAATGGCACCACAGAAAACT -3'
(R):5'- AGAACACAGAAGAAGCTCTTCTCTTCCT -3'

Sequencing Primer
(F):5'- TGGCACCACAGAAAACTTATGC -3'
(R):5'- CTCTTCCTATGAAGCTAAAGGGAC -3'

Posted On

2014-04-13