Incidental Mutation 'IGL01432:Slco1a5'
| ID |
84183 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a5
|
| Ensembl Gene |
ENSMUSG00000063975 |
| Gene Name |
solute carrier organic anion transporter family, member 1a5 |
| Synonyms |
Slc21a7, Oatp3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL01432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142182012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 571
(I571L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081380
AA Change: I571L
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: I571L
| 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: I571L
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: I571L
| 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: ENSMUST00000153268
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157614
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh9a1 |
T |
C |
1: 167,183,354 (GRCm39) |
S191P |
probably damaging |
Het |
| Aldoart2 |
A |
T |
12: 55,612,566 (GRCm39) |
I164F |
probably damaging |
Het |
| Anapc1 |
C |
A |
2: 128,475,328 (GRCm39) |
A1384S |
probably damaging |
Het |
| Arid5a |
T |
G |
1: 36,358,514 (GRCm39) |
S429A |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,125 (GRCm39) |
K892E |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,057,908 (GRCm39) |
V3166E |
possibly damaging |
Het |
| Bpnt1 |
G |
A |
1: 185,086,218 (GRCm39) |
W261* |
probably null |
Het |
| Calu |
A |
G |
6: 29,356,552 (GRCm39) |
D26G |
possibly damaging |
Het |
| Ccdc113 |
C |
T |
8: 96,264,885 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,605,405 (GRCm39) |
Y1003H |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,831,033 (GRCm39) |
K290R |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,967,835 (GRCm39) |
A140V |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,418,015 (GRCm39) |
I81M |
possibly damaging |
Het |
| Chn1 |
A |
T |
2: 73,462,096 (GRCm39) |
C236S |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,655,295 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
A |
T |
1: 17,817,025 (GRCm39) |
Q194L |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,596,895 (GRCm39) |
V1981A |
probably damaging |
Het |
| Cttn |
A |
G |
7: 144,015,043 (GRCm39) |
I55T |
probably damaging |
Het |
| Ddx46 |
G |
T |
13: 55,785,835 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
A |
T |
18: 38,030,557 (GRCm39) |
I299N |
unknown |
Het |
| Dll1 |
A |
G |
17: 15,588,768 (GRCm39) |
Y636H |
probably damaging |
Het |
| Eng |
A |
T |
2: 32,559,544 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,578,324 (GRCm39) |
V389A |
possibly damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,547,043 (GRCm39) |
T461S |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,268,434 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Gm5852 |
A |
G |
3: 93,635,086 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Gnrhr |
C |
T |
5: 86,330,052 (GRCm39) |
G323R |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,182,229 (GRCm39) |
E661D |
possibly damaging |
Het |
| Grik4 |
A |
T |
9: 42,432,472 (GRCm39) |
C842S |
probably damaging |
Het |
| Iws1 |
A |
G |
18: 32,216,519 (GRCm39) |
|
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,591,089 (GRCm39) |
T314A |
probably damaging |
Het |
| Klhdc1 |
A |
C |
12: 69,298,751 (GRCm39) |
K112T |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,720,393 (GRCm39) |
T3865A |
unknown |
Het |
| Lgr5 |
T |
C |
10: 115,288,997 (GRCm39) |
K477R |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,206,351 (GRCm39) |
L106Q |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,675,655 (GRCm39) |
M26K |
probably damaging |
Het |
| Mettl2 |
T |
C |
11: 105,017,348 (GRCm39) |
V9A |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,864,202 (GRCm39) |
D456G |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,105,689 (GRCm39) |
T344A |
possibly damaging |
Het |
| Npr1 |
T |
A |
3: 90,370,543 (GRCm39) |
I308F |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,075,466 (GRCm39) |
V509M |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,924,583 (GRCm39) |
M5727V |
probably benign |
Het |
| Or2d4 |
T |
C |
7: 106,543,748 (GRCm39) |
I153M |
possibly damaging |
Het |
| Or4c114 |
T |
A |
2: 88,904,545 (GRCm39) |
I297F |
probably benign |
Het |
| Or4k15c |
T |
A |
14: 50,321,404 (GRCm39) |
T245S |
probably benign |
Het |
| Or5an1c |
A |
G |
19: 12,218,891 (GRCm39) |
S45P |
probably damaging |
Het |
| Pcgf1 |
T |
C |
6: 83,055,398 (GRCm39) |
I11T |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 177,924,893 (GRCm39) |
V276A |
probably benign |
Het |
| Pla2g6 |
A |
T |
15: 79,202,168 (GRCm39) |
M1K |
probably null |
Het |
| Plec |
T |
C |
15: 76,074,728 (GRCm39) |
E413G |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,326,626 (GRCm39) |
A187S |
possibly damaging |
Het |
| Polq |
A |
T |
16: 36,892,184 (GRCm39) |
|
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,143,202 (GRCm39) |
K139E |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,541,216 (GRCm39) |
D240G |
probably benign |
Het |
| Ptpn12 |
A |
T |
5: 21,203,553 (GRCm39) |
Y408* |
probably null |
Het |
| Ptprt |
A |
G |
2: 162,109,999 (GRCm39) |
|
probably benign |
Het |
| Rnf6 |
A |
T |
5: 146,152,931 (GRCm39) |
S95T |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,866,090 (GRCm39) |
S287G |
possibly damaging |
Het |
| Samd4b |
A |
G |
7: 28,113,491 (GRCm39) |
F158S |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,738,285 (GRCm39) |
T527A |
probably damaging |
Het |
| Smg9 |
T |
C |
7: 24,120,691 (GRCm39) |
|
probably null |
Het |
| Snx25 |
A |
G |
8: 46,558,197 (GRCm39) |
L270P |
probably damaging |
Het |
| Ssh1 |
G |
T |
5: 114,096,883 (GRCm39) |
T165N |
probably benign |
Het |
| Stk24 |
T |
A |
14: 121,540,218 (GRCm39) |
E127V |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,661,689 (GRCm39) |
V914A |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,366,506 (GRCm39) |
|
probably benign |
Het |
| Tbcel |
A |
T |
9: 42,355,817 (GRCm39) |
L114Q |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,767 (GRCm39) |
D816G |
probably benign |
Het |
| Uhrf1 |
G |
A |
17: 56,625,250 (GRCm39) |
V566M |
probably damaging |
Het |
| Ulk4 |
T |
A |
9: 121,095,367 (GRCm39) |
E95D |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,201 (GRCm39) |
M6T |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,661,983 (GRCm39) |
V611I |
possibly damaging |
Het |
| Vwde |
G |
T |
6: 13,193,239 (GRCm39) |
H367N |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,723,553 (GRCm39) |
V585A |
probably benign |
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 |
|
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 |
|
R7445:Slco1a5
|
UTSW |
6 |
142,204,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation