Incidental Mutation 'IGL02366:Slco1a5'
ID |
290749 |
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 # |
IGL02366
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142195941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 354
(V354D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137607
(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: V354D
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000080116 Gene: ENSMUSG00000063975 AA Change: V354D
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 |
possibly damaging
Transcript: ENSMUST00000111825
AA Change: V354D
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137607 Gene: ENSMUSG00000063975 AA Change: V354D
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
|
SMART Domains |
Protein: ENSMUSP00000124987 Gene: ENSMUSG00000063975
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
T |
A |
15: 12,810,859 (GRCm39) |
H339L |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,285,843 (GRCm39) |
|
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,454,994 (GRCm39) |
Y3H |
probably damaging |
Het |
Armcx4 |
A |
C |
X: 133,592,261 (GRCm39) |
K723T |
possibly damaging |
Het |
Brinp3 |
T |
A |
1: 146,577,481 (GRCm39) |
V172D |
possibly damaging |
Het |
Cemip |
C |
T |
7: 83,592,849 (GRCm39) |
R1226Q |
probably benign |
Het |
Cntn5 |
A |
T |
9: 9,984,060 (GRCm39) |
|
probably benign |
Het |
Cyld |
T |
C |
8: 89,456,381 (GRCm39) |
V474A |
probably damaging |
Het |
Dhx40 |
T |
C |
11: 86,667,528 (GRCm39) |
E537G |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,030,486 (GRCm39) |
N140D |
probably damaging |
Het |
Eif6 |
A |
G |
2: 155,668,092 (GRCm39) |
V49A |
probably benign |
Het |
Epha4 |
G |
T |
1: 77,403,348 (GRCm39) |
Y386* |
probably null |
Het |
Ggnbp2 |
T |
C |
11: 84,732,427 (GRCm39) |
K222R |
probably damaging |
Het |
Gm5117 |
T |
C |
8: 32,227,887 (GRCm39) |
|
noncoding transcript |
Het |
Gm5852 |
A |
T |
3: 93,634,568 (GRCm39) |
|
noncoding transcript |
Het |
Hadha |
A |
G |
5: 30,340,048 (GRCm39) |
V243A |
probably benign |
Het |
Hal |
A |
G |
10: 93,339,390 (GRCm39) |
N493S |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,717,216 (GRCm39) |
T731A |
possibly damaging |
Het |
Irs4 |
A |
T |
X: 140,506,900 (GRCm39) |
L432H |
probably damaging |
Het |
Kdm4a |
T |
G |
4: 118,017,703 (GRCm39) |
|
probably null |
Het |
Lhx4 |
T |
C |
1: 155,580,934 (GRCm39) |
D197G |
possibly damaging |
Het |
Mllt10 |
T |
A |
2: 18,069,898 (GRCm39) |
M18K |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,636,599 (GRCm39) |
T422A |
possibly damaging |
Het |
Ncf2 |
A |
G |
1: 152,710,824 (GRCm39) |
D445G |
probably benign |
Het |
Ndor1 |
C |
A |
2: 25,137,993 (GRCm39) |
G544V |
possibly damaging |
Het |
Notch3 |
C |
A |
17: 32,363,179 (GRCm39) |
R1268L |
probably benign |
Het |
Or51ac3 |
A |
T |
7: 103,213,622 (GRCm39) |
V288D |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,491 (GRCm39) |
Y130C |
probably damaging |
Het |
Or6c202 |
A |
T |
10: 128,996,494 (GRCm39) |
Y120N |
probably damaging |
Het |
Or8g2 |
T |
C |
9: 39,821,288 (GRCm39) |
L63P |
probably damaging |
Het |
Osgep |
T |
C |
14: 51,157,407 (GRCm39) |
D72G |
probably damaging |
Het |
Pank4 |
C |
T |
4: 155,054,085 (GRCm39) |
T88I |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,038,894 (GRCm39) |
E122G |
possibly damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,855,090 (GRCm39) |
H123R |
probably damaging |
Het |
Prex1 |
A |
C |
2: 166,422,347 (GRCm39) |
L28R |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,016,813 (GRCm39) |
N595K |
probably benign |
Het |
Rnf148 |
T |
C |
6: 23,654,058 (GRCm39) |
I313V |
probably benign |
Het |
Rnf220 |
T |
C |
4: 117,346,980 (GRCm39) |
N144S |
probably benign |
Het |
Sbno2 |
G |
A |
10: 79,900,036 (GRCm39) |
T577I |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
Slit2 |
A |
T |
5: 48,461,410 (GRCm39) |
T1486S |
possibly damaging |
Het |
Snd1 |
T |
C |
6: 28,707,149 (GRCm39) |
|
probably benign |
Het |
Sval3 |
T |
C |
6: 41,946,659 (GRCm39) |
|
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,688,258 (GRCm39) |
L1239P |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,755,874 (GRCm39) |
|
probably benign |
Het |
Ttc9 |
A |
C |
12: 81,678,384 (GRCm39) |
D69A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,593,580 (GRCm39) |
L20687M |
probably benign |
Het |
Zfp748 |
T |
A |
13: 67,693,546 (GRCm39) |
|
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 |
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 |
|
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 |