Incidental Mutation 'R7445:Slco1a5'
| ID |
577224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a5
|
| Ensembl Gene |
ENSMUSG00000063975 |
| Gene Name |
solute carrier organic anion transporter family, member 1a5 |
| Synonyms |
Slc21a7, Oatp3 |
| MMRRC Submission |
045521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 142204734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 187
(A187S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000128446]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081380
AA Change: A187S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: A187S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
420 |
4.3e-30 |
PFAM |
|
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111825
AA Change: A187S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: A187S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
420 |
5.8e-30 |
PFAM |
|
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128446
AA Change: A145S
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
AA Change: A145S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
157 |
6.1e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153268
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.1589 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,962 (GRCm39) |
S233T |
probably damaging |
Het |
| 1700034E13Rik |
T |
A |
18: 52,793,553 (GRCm39) |
C29S |
probably damaging |
Het |
| Acsbg3 |
G |
A |
17: 57,189,973 (GRCm39) |
R333Q |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,827,954 (GRCm39) |
T2208A |
|
Het |
| Ap4s1 |
T |
C |
12: 51,785,424 (GRCm39) |
L132P |
probably damaging |
Het |
| Ascl4 |
C |
T |
10: 85,764,364 (GRCm39) |
R4C |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,088,336 (GRCm39) |
Y18N |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,780,575 (GRCm39) |
S648P |
possibly damaging |
Het |
| Camta1 |
C |
T |
4: 151,228,748 (GRCm39) |
E695K |
possibly damaging |
Het |
| Ccdc28b |
A |
G |
4: 129,516,400 (GRCm39) |
F53L |
probably benign |
Het |
| Chaf1a |
A |
G |
17: 56,369,170 (GRCm39) |
D467G |
possibly damaging |
Het |
| Cnnm1 |
G |
A |
19: 43,429,260 (GRCm39) |
R126H |
possibly damaging |
Het |
| Cog5 |
T |
G |
12: 31,969,671 (GRCm39) |
S730R |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,987,578 (GRCm39) |
E1374D |
unknown |
Het |
| Csmd1 |
A |
G |
8: 16,208,268 (GRCm39) |
I1229T |
possibly damaging |
Het |
| Degs1l |
A |
G |
1: 180,882,577 (GRCm39) |
N113S |
possibly damaging |
Het |
| Dnajc30 |
T |
C |
5: 135,093,232 (GRCm39) |
L43P |
probably damaging |
Het |
| Eif3f |
C |
T |
7: 108,533,865 (GRCm39) |
T76M |
unknown |
Het |
| Ermap |
G |
A |
4: 119,045,907 (GRCm39) |
T42I |
unknown |
Het |
| Gpd1l |
C |
T |
9: 114,749,742 (GRCm39) |
G25S |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,445,919 (GRCm39) |
W1632L |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,744,286 (GRCm39) |
D29G |
|
Het |
| Ipo8 |
T |
C |
6: 148,691,315 (GRCm39) |
D685G |
probably benign |
Het |
| Klra10 |
T |
C |
6: 130,252,819 (GRCm39) |
T152A |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,693 (GRCm39) |
S82C |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,446,190 (GRCm39) |
S87P |
possibly damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Mei4 |
A |
G |
9: 81,772,292 (GRCm39) |
Y35C |
possibly damaging |
Het |
| Ms4a14 |
T |
G |
19: 11,280,336 (GRCm39) |
K741Q |
probably benign |
Het |
| Mtcl3 |
T |
C |
10: 29,072,999 (GRCm39) |
S764P |
possibly damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncapg2 |
A |
G |
12: 116,382,888 (GRCm39) |
I240V |
possibly damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,149,914 (GRCm39) |
M145K |
probably damaging |
Het |
| Nmur2 |
A |
G |
11: 55,923,766 (GRCm39) |
F263L |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 58,994,576 (GRCm39) |
E164G |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,472,549 (GRCm39) |
L301S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,674,616 (GRCm39) |
T234S |
probably damaging |
Het |
| Or6c5b |
A |
T |
10: 129,245,754 (GRCm39) |
D173V |
probably benign |
Het |
| P3h2 |
T |
A |
16: 25,803,815 (GRCm39) |
Y317F |
probably damaging |
Het |
| Pcmtd1 |
C |
T |
1: 7,190,644 (GRCm39) |
R38C |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,368,661 (GRCm39) |
T286A |
possibly damaging |
Het |
| Pdxk |
T |
C |
10: 78,283,801 (GRCm39) |
D131G |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,906,932 (GRCm39) |
D1121G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,463,942 (GRCm39) |
D240G |
probably benign |
Het |
| Ptgs1 |
C |
A |
2: 36,135,222 (GRCm39) |
N395K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,426,820 (GRCm39) |
Y1572N |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,227 (GRCm39) |
H326L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,719,704 (GRCm39) |
D778G |
probably benign |
Het |
| Rbm46 |
T |
A |
3: 82,771,517 (GRCm39) |
E366V |
probably damaging |
Het |
| Rnd1 |
G |
T |
15: 98,568,550 (GRCm39) |
H209Q |
probably benign |
Het |
| Rnf122 |
A |
T |
8: 31,608,528 (GRCm39) |
D32V |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,105,881 (GRCm39) |
P446S |
probably benign |
Het |
| Smarca4 |
G |
A |
9: 21,597,543 (GRCm39) |
V1436M |
probably damaging |
Het |
| Smok2a |
G |
A |
17: 13,445,526 (GRCm39) |
G368R |
possibly damaging |
Het |
| Smok3c |
T |
A |
5: 138,062,757 (GRCm39) |
H81Q |
probably damaging |
Het |
| Stk16 |
T |
C |
1: 75,190,296 (GRCm39) |
V245A |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,094,122 (GRCm39) |
N1505K |
possibly damaging |
Het |
| Tigd4 |
G |
A |
3: 84,502,471 (GRCm39) |
A463T |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,612,799 (GRCm39) |
F112L |
probably benign |
Het |
| Tmem72 |
A |
G |
6: 116,675,291 (GRCm39) |
I67T |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,718,058 (GRCm39) |
|
probably null |
Het |
| Trav14-2 |
A |
G |
14: 53,878,515 (GRCm39) |
Q66R |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,598,276 (GRCm39) |
D677V |
probably damaging |
Het |
| Vgll4 |
C |
T |
6: 114,839,157 (GRCm39) |
S278N |
unknown |
Het |
| Wdfy4 |
C |
T |
14: 32,792,575 (GRCm39) |
W2157* |
probably null |
Het |
|
| Other mutations in Slco1a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Slco1a5
|
APN |
6 |
142,187,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01432:Slco1a5
|
APN |
6 |
142,182,012 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01590:Slco1a5
|
APN |
6 |
142,196,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01824:Slco1a5
|
APN |
6 |
142,198,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01915:Slco1a5
|
APN |
6 |
142,189,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01945:Slco1a5
|
APN |
6 |
142,189,715 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02078:Slco1a5
|
APN |
6 |
142,200,172 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02178:Slco1a5
|
APN |
6 |
142,208,414 (GRCm39) |
nonsense |
probably null |
|
|
IGL02366:Slco1a5
|
APN |
6 |
142,195,941 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02395:Slco1a5
|
APN |
6 |
142,221,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02621:Slco1a5
|
APN |
6 |
142,187,741 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02752:Slco1a5
|
APN |
6 |
142,208,438 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02940:Slco1a5
|
APN |
6 |
142,187,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Slco1a5
|
APN |
6 |
142,194,569 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Slco1a5
|
APN |
6 |
142,180,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
|
R0230:Slco1a5
|
UTSW |
6 |
142,182,054 (GRCm39) |
splice site |
probably benign |
|
|
R0690:Slco1a5
|
UTSW |
6 |
142,214,004 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1217:Slco1a5
|
UTSW |
6 |
142,200,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1900:Slco1a5
|
UTSW |
6 |
142,187,789 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2084:Slco1a5
|
UTSW |
6 |
142,180,437 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2393:Slco1a5
|
UTSW |
6 |
142,194,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2414:Slco1a5
|
UTSW |
6 |
142,181,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2760:Slco1a5
|
UTSW |
6 |
142,195,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3420:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3421:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3827:Slco1a5
|
UTSW |
6 |
142,198,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3963:Slco1a5
|
UTSW |
6 |
142,194,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3977:Slco1a5
|
UTSW |
6 |
142,204,698 (GRCm39) |
splice site |
probably benign |
|
|
R4074:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4075:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4076:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4782:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4799:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4831:Slco1a5
|
UTSW |
6 |
142,180,431 (GRCm39) |
missense |
probably benign |
|
|
R5038:Slco1a5
|
UTSW |
6 |
142,212,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Slco1a5
|
UTSW |
6 |
142,208,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5063:Slco1a5
|
UTSW |
6 |
142,204,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Slco1a5
|
UTSW |
6 |
142,187,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5436:Slco1a5
|
UTSW |
6 |
142,200,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Slco1a5
|
UTSW |
6 |
142,187,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5602:Slco1a5
|
UTSW |
6 |
142,221,255 (GRCm39) |
start gained |
probably benign |
|
|
R5643:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
|
R5644:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
|
R5686:Slco1a5
|
UTSW |
6 |
142,182,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Slco1a5
|
UTSW |
6 |
142,194,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5792:Slco1a5
|
UTSW |
6 |
142,187,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Slco1a5
|
UTSW |
6 |
142,194,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5997:Slco1a5
|
UTSW |
6 |
142,198,839 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6146:Slco1a5
|
UTSW |
6 |
142,180,534 (GRCm39) |
missense |
probably benign |
|
|
R6377:Slco1a5
|
UTSW |
6 |
142,187,906 (GRCm39) |
splice site |
probably null |
|
|
R6466:Slco1a5
|
UTSW |
6 |
142,183,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6523:Slco1a5
|
UTSW |
6 |
142,212,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Slco1a5
|
UTSW |
6 |
142,194,401 (GRCm39) |
missense |
probably benign |
|
|
R7207:Slco1a5
|
UTSW |
6 |
142,194,475 (GRCm39) |
nonsense |
probably null |
|
|
R7356:Slco1a5
|
UTSW |
6 |
142,180,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7430:Slco1a5
|
UTSW |
6 |
142,194,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7499:Slco1a5
|
UTSW |
6 |
142,208,257 (GRCm39) |
splice site |
probably null |
|
|
R7579:Slco1a5
|
UTSW |
6 |
142,221,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8117:Slco1a5
|
UTSW |
6 |
142,208,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Slco1a5
|
UTSW |
6 |
142,208,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Slco1a5
|
UTSW |
6 |
142,221,202 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8358:Slco1a5
|
UTSW |
6 |
142,208,411 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8710:Slco1a5
|
UTSW |
6 |
142,198,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9071:Slco1a5
|
UTSW |
6 |
142,196,052 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9316:Slco1a5
|
UTSW |
6 |
142,195,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9427:Slco1a5
|
UTSW |
6 |
142,214,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9619:Slco1a5
|
UTSW |
6 |
142,198,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAACCCTCCTTGAACAATC -3'
(R):5'- TGAATGGTCATGGCCTGTAAC -3'
Sequencing Primer
(F):5'- TCTCATGATCTACAGAGGCATAGC -3'
(R):5'- TGGTCATGGCCTGTAACCAGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation