Incidental Mutation 'IGL02178:Slco1a5'
| ID |
283175 |
| 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 # |
IGL02178
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 142208414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 81
(C81*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000128446]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081380
AA Change: S126T
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: S126T
| 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 |
noncoding transcript
Transcript: ENSMUST00000111822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111825
AA Change: S126T
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: S126T
| 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: S84T
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
AA Change: S84T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
157 |
6.1e-67 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153268
AA Change: C81*
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
AA Change: C81*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,418 (GRCm39) |
T516S |
possibly damaging |
Het |
| 6820408C15Rik |
T |
C |
2: 152,269,921 (GRCm39) |
|
probably benign |
Het |
| Ak5 |
T |
C |
3: 152,232,422 (GRCm39) |
D331G |
probably benign |
Het |
| Ar |
A |
G |
X: 97,349,044 (GRCm39) |
D675G |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,343,179 (GRCm39) |
D276G |
probably benign |
Het |
| Arhgef3 |
C |
T |
14: 26,987,486 (GRCm39) |
R40* |
probably null |
Het |
| Atp1b4 |
G |
T |
X: 37,421,695 (GRCm39) |
R293L |
possibly damaging |
Het |
| Borcs8 |
T |
C |
8: 70,617,897 (GRCm39) |
L85P |
probably damaging |
Het |
| Carmil1 |
T |
G |
13: 24,278,386 (GRCm39) |
K194N |
probably damaging |
Het |
| Catsper4 |
T |
A |
4: 133,954,637 (GRCm39) |
K4N |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,206,921 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
A |
G |
3: 100,901,082 (GRCm39) |
S997P |
probably damaging |
Het |
| Cdkl5 |
G |
A |
X: 159,599,889 (GRCm39) |
T792I |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,743,321 (GRCm39) |
Y185C |
probably damaging |
Het |
| Clcn5 |
A |
G |
X: 7,052,563 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Col6a1 |
A |
T |
10: 76,546,909 (GRCm39) |
I771N |
unknown |
Het |
| Crispld1 |
C |
T |
1: 17,832,327 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,825,718 (GRCm39) |
I128T |
possibly damaging |
Het |
| Gga1 |
T |
A |
15: 78,776,247 (GRCm39) |
M430K |
probably benign |
Het |
| Has2 |
A |
G |
15: 56,545,456 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ivd |
A |
G |
2: 118,701,915 (GRCm39) |
I116V |
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,481,226 (GRCm39) |
N183D |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,790,611 (GRCm39) |
I314N |
probably damaging |
Het |
| Map6d1 |
T |
G |
16: 20,055,448 (GRCm39) |
E129D |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,296,146 (GRCm39) |
V145A |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,359,184 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,461,802 (GRCm39) |
F1416L |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,753,838 (GRCm39) |
I182V |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,907 (GRCm39) |
I256N |
possibly damaging |
Het |
| Or7a35 |
T |
C |
10: 78,853,554 (GRCm39) |
Y133H |
possibly damaging |
Het |
| Phc3 |
T |
C |
3: 30,984,012 (GRCm39) |
T668A |
possibly damaging |
Het |
| Pheta2 |
T |
A |
15: 82,227,527 (GRCm39) |
D15E |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
| Prkcq |
A |
C |
2: 11,281,851 (GRCm39) |
Y460S |
possibly damaging |
Het |
| Prmt8 |
T |
A |
6: 127,674,770 (GRCm39) |
E286V |
probably benign |
Het |
| Ptprb |
A |
T |
10: 116,158,437 (GRCm39) |
M503L |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,522,180 (GRCm39) |
D590E |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,604,033 (GRCm39) |
S196R |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,656,144 (GRCm39) |
Y1951H |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,538,258 (GRCm39) |
|
probably null |
Het |
| Sde2 |
T |
G |
1: 180,678,796 (GRCm39) |
L20R |
possibly damaging |
Het |
| Snx2 |
A |
G |
18: 53,332,857 (GRCm39) |
E177G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,927,783 (GRCm39) |
V667D |
probably damaging |
Het |
| Tas2r115 |
T |
C |
6: 132,714,271 (GRCm39) |
T227A |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,741,108 (GRCm39) |
H41R |
possibly damaging |
Het |
| Vmn1r35 |
T |
G |
6: 66,656,086 (GRCm39) |
S28R |
probably damaging |
Het |
| Vmn2r110 |
A |
C |
17: 20,804,706 (GRCm39) |
|
probably null |
Het |
| Vstm2l |
T |
C |
2: 157,777,337 (GRCm39) |
Y72H |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zbtb4 |
A |
T |
11: 69,667,255 (GRCm39) |
R187* |
probably null |
Het |
| Zfp598 |
A |
G |
17: 24,896,517 (GRCm39) |
D198G |
probably damaging |
Het |
| Zp2 |
G |
T |
7: 119,732,973 (GRCm39) |
A629E |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation