Incidental Mutation 'R0970:Slc10a2'
| ID |
84021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc10a2
|
| Ensembl Gene |
ENSMUSG00000023073 |
| Gene Name |
solute carrier family 10, member 2 |
| Synonyms |
9130221J18Rik, ASBT |
| MMRRC Submission |
039099-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
5133219-5155287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 5155115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 23
(E23D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023835]
|
| AlphaFold |
P70172 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023835
AA Change: E23D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023835
Gene: ENSMUSG00000023073
AA Change: E23D
| 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 |
0.0865 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,661,364 (GRCm39) |
S307P |
probably damaging |
Het |
| Amdhd2 |
C |
T |
17: 24,375,544 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
T |
7: 144,149,308 (GRCm39) |
M851K |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,740,834 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,965,516 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| C87436 |
G |
A |
6: 86,424,310 (GRCm39) |
V281M |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,157,652 (GRCm39) |
K184E |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,370,208 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,465,438 (GRCm39) |
T383A |
probably benign |
Het |
| Commd5 |
A |
T |
15: 76,784,885 (GRCm39) |
|
probably null |
Het |
| Cyp4b1 |
G |
A |
4: 115,492,833 (GRCm39) |
A292V |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,045,324 (GRCm39) |
L696P |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,514,722 (GRCm39) |
R510G |
probably damaging |
Het |
| Eno3 |
T |
C |
11: 70,551,628 (GRCm39) |
I196T |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,069,084 (GRCm39) |
E137G |
probably damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,620,625 (GRCm39) |
|
probably null |
Het |
| Ggnbp2 |
T |
C |
11: 84,753,138 (GRCm39) |
M34V |
possibly damaging |
Het |
| Gpihbp1 |
G |
A |
15: 75,469,795 (GRCm39) |
S170N |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,942,092 (GRCm39) |
S528P |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,613,372 (GRCm39) |
Q832L |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,233,901 (GRCm39) |
P1861Q |
probably damaging |
Het |
| Or52n5 |
A |
C |
7: 104,588,284 (GRCm39) |
M184L |
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,213,549 (GRCm39) |
I1782N |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,304,983 (GRCm39) |
S1757T |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,932,331 (GRCm39) |
W523C |
probably damaging |
Het |
| Pmm2 |
G |
T |
16: 8,460,640 (GRCm39) |
L31F |
probably damaging |
Het |
| Ppm1f |
T |
C |
16: 16,721,457 (GRCm39) |
|
probably null |
Het |
| Prss16 |
T |
C |
13: 22,189,287 (GRCm39) |
Y34C |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,216,362 (GRCm39) |
I489F |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,343,762 (GRCm39) |
|
probably benign |
Het |
| Stradb |
C |
T |
1: 59,016,219 (GRCm39) |
L3F |
possibly damaging |
Het |
| Tnxb |
C |
G |
17: 34,917,917 (GRCm39) |
P2277A |
possibly damaging |
Het |
| Tpm2 |
T |
A |
4: 43,515,968 (GRCm39) |
I270F |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,335 (GRCm39) |
L1484Q |
possibly damaging |
Het |
| Xylt1 |
G |
A |
7: 117,233,963 (GRCm39) |
V497I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTCCAAACTGACAGAGGAAGCCC -3'
(R):5'- TGCAGCCTCTCGAAACTGACATAC -3'
Sequencing Primer
(F):5'- GAGGAAGCCCACGAAGATACC -3'
(R):5'- GTGGCTTTTCAAAGAGACACC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation