Incidental Mutation 'R3905:Slc10a1'
| ID |
309160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc10a1
|
| Ensembl Gene |
ENSMUSG00000021135 |
| Gene Name |
solute carrier family 10 (sodium/bile acid cotransporter family), member 1 |
| Synonyms |
sodium bile acid cotransporting polypeptide, Ntcp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80999959-81015479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81014441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 93
(I93T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095572]
[ENSMUST00000218162]
[ENSMUST00000218342]
[ENSMUST00000220266]
|
| AlphaFold |
O08705 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095572
AA Change: I93T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093229
Gene: ENSMUSG00000021135
AA Change: I93T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBF
|
32 |
217 |
3.3e-47 |
PFAM |
|
transmembrane domain
|
222 |
244 |
N/A |
INTRINSIC |
|
transmembrane domain
|
282 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218162
AA Change: I93T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218342
AA Change: I93T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220266
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,307,389 (GRCm39) |
I1964N |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,318,616 (GRCm39) |
F1796L |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,515,257 (GRCm39) |
M821L |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,726,209 (GRCm39) |
I262F |
possibly damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,497,928 (GRCm39) |
E286D |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,106,339 (GRCm39) |
I429M |
possibly damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,155 (GRCm39) |
R198G |
possibly damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Ccdc159 |
T |
A |
9: 21,845,815 (GRCm39) |
|
probably null |
Het |
| Cct7 |
A |
T |
6: 85,443,690 (GRCm39) |
I353F |
possibly damaging |
Het |
| Cfap57 |
A |
G |
4: 118,453,036 (GRCm39) |
Y556H |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,927,531 (GRCm39) |
L324P |
possibly damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Impa1 |
T |
C |
3: 10,381,094 (GRCm39) |
T263A |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,956,166 (GRCm39) |
Y609C |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,166,294 (GRCm39) |
G563R |
possibly damaging |
Het |
| Mark1 |
A |
C |
1: 184,640,632 (GRCm39) |
|
probably null |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,227 (GRCm39) |
Y1N |
probably damaging |
Het |
| Nek3 |
T |
C |
8: 22,623,107 (GRCm39) |
E309G |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,487,749 (GRCm39) |
F17S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,076,178 (GRCm39) |
E376G |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,208,882 (GRCm39) |
E2494K |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,511 (GRCm39) |
H1349R |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rxfp2 |
A |
T |
5: 149,979,450 (GRCm39) |
|
probably null |
Het |
| Tarbp1 |
C |
T |
8: 127,154,891 (GRCm39) |
R1411Q |
probably damaging |
Het |
| Tbl3 |
C |
T |
17: 24,921,006 (GRCm39) |
D563N |
probably damaging |
Het |
| Tec |
A |
G |
5: 72,917,705 (GRCm39) |
S505P |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,750 (GRCm39) |
R548* |
probably null |
Het |
| Vmn1r39 |
G |
A |
6: 66,781,479 (GRCm39) |
Q243* |
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
|
| Other mutations in Slc10a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01870:Slc10a1
|
APN |
12 |
81,007,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02065:Slc10a1
|
APN |
12 |
81,007,248 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0212:Slc10a1
|
UTSW |
12 |
81,014,486 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1170:Slc10a1
|
UTSW |
12 |
81,002,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1261:Slc10a1
|
UTSW |
12 |
81,014,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Slc10a1
|
UTSW |
12 |
81,000,446 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2010:Slc10a1
|
UTSW |
12 |
81,007,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2094:Slc10a1
|
UTSW |
12 |
81,002,822 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2206:Slc10a1
|
UTSW |
12 |
81,014,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4392:Slc10a1
|
UTSW |
12 |
81,014,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Slc10a1
|
UTSW |
12 |
81,004,906 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5173:Slc10a1
|
UTSW |
12 |
81,002,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5344:Slc10a1
|
UTSW |
12 |
81,000,540 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7173:Slc10a1
|
UTSW |
12 |
81,002,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:Slc10a1
|
UTSW |
12 |
81,004,958 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7413:Slc10a1
|
UTSW |
12 |
81,007,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7990:Slc10a1
|
UTSW |
12 |
81,000,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8879:Slc10a1
|
UTSW |
12 |
81,014,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9304:Slc10a1
|
UTSW |
12 |
81,004,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9483:Slc10a1
|
UTSW |
12 |
81,002,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCCAATTTAGCATAAACCTTTG -3'
(R):5'- ATCATGCTCTCGCTTGGCTG -3'
Sequencing Primer
(F):5'- GCATAAACCTTTGACAATCAATGC -3'
(R):5'- CTGCACCATGGAGTTCAGCAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation