Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Slc10a2'

577018

Institutional Source

Beutler Lab

Gene Symbol

Slc10a2

Ensembl Gene

ENSMUSG00000023073

Gene Name

solute carrier family 10, member 2

Synonyms

9130221J18Rik, ASBT

MMRRC Submission

045518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5133219-5155287 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5139086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 286 (V286E)

Ref Sequence

ENSEMBL: ENSMUSP00000023835 (fasta)

Gene Model

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

AlphaFold

P70172

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023835
AA Change: V286E

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: V286E

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

0.3828

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,946,919 (GRCm39)	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,645,509 (GRCm39)	S465P	possibly damaging	Het
Acap3	T	C	4: 155,990,078 (GRCm39)	F753L	probably damaging	Het
Adam9	A	T	8: 25,457,223 (GRCm39)	V635E	probably damaging	Het
Adgre4	T	A	17: 56,159,340 (GRCm39)	V675E	probably benign	Het
Anapc4	T	C	5: 53,014,543 (GRCm39)	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,561,268 (GRCm39)	K325N	possibly damaging	Het
Aox1	T	C	1: 58,121,172 (GRCm39)	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,563,739 (GRCm39)	T237A	probably benign	Het
Asah1	T	C	8: 41,796,602 (GRCm39)	D331G	possibly damaging	Het
Atp5f1a	G	A	18: 77,866,820 (GRCm39)	R231H	probably benign	Het
Bod1l	G	A	5: 41,964,522 (GRCm39)	P2694L	probably damaging	Het
Bst1	T	C	5: 43,979,084 (GRCm39)	S143P	probably benign	Het
Cacna1b	A	C	2: 24,497,513 (GRCm39)	S2132A	probably benign	Het
Caps2	G	T	10: 112,044,259 (GRCm39)	R486L	probably damaging	Het
Ccdc168	A	G	1: 44,097,868 (GRCm39)	S1077P	possibly damaging	Het
Cd68	T	C	11: 69,556,754 (GRCm39)	T18A	probably benign	Het
Cdk8	T	C	5: 146,229,579 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,932,072 (GRCm39)	I127N	unknown	Het
Dsc3	T	C	18: 20,114,213 (GRCm39)	D347G	probably damaging	Het
Dyrk2	T	C	10: 118,695,786 (GRCm39)	S491G	probably damaging	Het
Edem1	T	A	6: 108,828,266 (GRCm39)	Y530*	probably null	Het
Enc1	A	T	13: 97,383,248 (GRCm39)	H586L	probably benign	Het
Ephb6	T	G	6: 41,594,981 (GRCm39)		probably null	Het
Etv5	G	T	16: 22,254,809 (GRCm39)	Q48K	probably damaging	Het
Exoc3l	A	G	8: 106,019,558 (GRCm39)	W404R	probably damaging	Het
Fbn1	C	A	2: 125,245,132 (GRCm39)	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,782,490 (GRCm39)	S241P	unknown	Het
Gm49380	T	A	9: 44,023,709 (GRCm39)	M180L	probably benign	Het
Hoxd1	A	T	2: 74,593,903 (GRCm39)	D153V	probably damaging	Het
Ifi207	C	T	1: 173,554,997 (GRCm39)	S895N	probably benign	Het
Igf1r	G	A	7: 67,823,026 (GRCm39)	V385M	probably damaging	Het
Ints9	C	T	14: 65,232,513 (GRCm39)	Q191*	probably null	Het
Ktn1	A	G	14: 47,952,097 (GRCm39)	E979G	probably benign	Het
Lama3	G	A	18: 12,605,238 (GRCm39)		probably null	Het
Lrtm2	C	T	6: 119,294,392 (GRCm39)	M246I	probably damaging	Het
Mdm1	T	C	10: 117,982,590 (GRCm39)	V75A	probably benign	Het
Mia3	T	C	1: 183,140,220 (GRCm39)	E165G	probably benign	Het
Mrps21	T	C	3: 95,770,128 (GRCm39)	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,362,155 (GRCm39)	I995S	probably damaging	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Myo16	G	A	8: 10,322,537 (GRCm39)	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,816,798 (GRCm39)	D134A	probably benign	Het
Obox1	G	T	7: 15,289,491 (GRCm39)	K93N	probably benign	Het
Or12d2	T	A	17: 37,624,816 (GRCm39)	H153L	possibly damaging	Het
Or2r3	A	T	6: 42,448,434 (GRCm39)	M226K	probably benign	Het
Or56a4	T	C	7: 104,806,289 (GRCm39)	Y200C	probably damaging	Het
Or5ar1	A	T	2: 85,672,096 (GRCm39)	V13D	probably benign	Het
Pkd2l1	T	C	19: 44,145,668 (GRCm39)	H185R	probably benign	Het
Ptpn18	A	G	1: 34,501,831 (GRCm39)	T48A	probably benign	Het
Ptprd	A	T	4: 75,978,058 (GRCm39)	Y583*	probably null	Het
Ptprk	G	A	10: 28,450,815 (GRCm39)	G992D	probably damaging	Het
Setdb2	A	G	14: 59,656,700 (GRCm39)	F206L	probably damaging	Het
Slain1	A	G	14: 103,923,150 (GRCm39)	D247G	probably damaging	Het
Slc44a2	C	T	9: 21,256,819 (GRCm39)	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,115,919 (GRCm39)	V685A	probably benign	Het
Srp54c	T	A	12: 55,302,347 (GRCm39)	Y333N	probably damaging	Het
Srrm2	T	C	17: 24,039,091 (GRCm39)	S1912P	unknown	Het
St7l	A	G	3: 104,796,645 (GRCm39)	T253A	possibly damaging	Het
Styxl2	T	C	1: 165,928,584 (GRCm39)	K343E	probably benign	Het
Sun3	T	G	11: 8,981,445 (GRCm39)	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,965,561 (GRCm39)	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,370,781 (GRCm39)	S648R	probably damaging	Het
Tmem178	T	A	17: 81,252,185 (GRCm39)	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,689 (GRCm39)	G22W	probably damaging	Het
Top3a	C	T	11: 60,644,744 (GRCm39)	S320N	possibly damaging	Het
Treml1	C	A	17: 48,673,719 (GRCm39)	D243E	probably damaging	Het
Trim42	C	T	9: 97,244,998 (GRCm39)	V601M	probably damaging	Het
Ttn	A	G	2: 76,573,350 (GRCm39)	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 12,835,983 (GRCm39)	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,793,662 (GRCm39)	F2S	probably benign	Het
Xpc	A	G	6: 91,481,631 (GRCm39)	L230P	probably damaging	Het
Xpo4	A	G	14: 57,867,680 (GRCm39)	V189A	probably benign	Het
Zfhx3	A	G	8: 109,519,468 (GRCm39)	T197A	probably damaging	Het
Zswim1	A	G	2: 164,667,710 (GRCm39)	K321E	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
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'- TTTCAATTTGTACAATCCACTGCC -3'
(R):5'- CACCAAATATGTATGTTAAAAGCAGAC -3'

Sequencing Primer
(F):5'- TTGTACAATCCACTGCCAAAAATGG -3'
(R):5'- GGTTAGACCTAACTTGGTGAAACC -3'

Posted On

2019-10-07