Incidental Mutation 'IGL01124:Slco3a1'
ID |
51606 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slco3a1
|
Ensembl Gene |
ENSMUSG00000025790 |
Gene Name |
solute carrier organic anion transporter family, member 3a1 |
Synonyms |
OATP-D, Slc21a11, 5830414C08Rik, Anr1, MJAM |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
IGL01124
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73934295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 626
(Y626H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
|
AlphaFold |
Q8R3L5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026897
AA Change: Y626H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026897 Gene: ENSMUSG00000025790 AA Change: Y626H
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
44 |
455 |
1.2e-27 |
PFAM |
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
low complexity region
|
574 |
594 |
N/A |
INTRINSIC |
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098371
AA Change: Y626H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095973 Gene: ENSMUSG00000025790 AA Change: Y626H
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
44 |
456 |
1.2e-27 |
PFAM |
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
low complexity region
|
574 |
594 |
N/A |
INTRINSIC |
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
T |
C |
10: 50,608,569 (GRCm39) |
I1477T |
probably damaging |
Het |
Baat |
A |
G |
4: 49,490,391 (GRCm39) |
I231T |
possibly damaging |
Het |
Cactin |
T |
C |
10: 81,160,184 (GRCm39) |
S426P |
possibly damaging |
Het |
Cfh |
A |
T |
1: 140,110,999 (GRCm39) |
F6I |
probably benign |
Het |
Clec4a2 |
C |
T |
6: 123,116,037 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,611,129 (GRCm39) |
S148P |
probably damaging |
Het |
Cubn |
G |
T |
2: 13,482,904 (GRCm39) |
Q281K |
possibly damaging |
Het |
Cyp2c65 |
T |
A |
19: 39,081,954 (GRCm39) |
|
probably benign |
Het |
Dennd4b |
A |
T |
3: 90,176,381 (GRCm39) |
T243S |
possibly damaging |
Het |
Epha8 |
C |
T |
4: 136,663,394 (GRCm39) |
G518D |
probably damaging |
Het |
Fmo3 |
G |
A |
1: 162,785,830 (GRCm39) |
R387C |
probably damaging |
Het |
Foxo6 |
T |
C |
4: 120,126,349 (GRCm39) |
T149A |
probably benign |
Het |
Fthl17d |
T |
C |
X: 8,852,827 (GRCm39) |
E3G |
probably benign |
Het |
Gm10521 |
A |
G |
1: 171,724,010 (GRCm39) |
Y107C |
unknown |
Het |
Ipo8 |
T |
A |
6: 148,678,874 (GRCm39) |
E908V |
probably benign |
Het |
Kcnd2 |
T |
C |
6: 21,217,216 (GRCm39) |
S307P |
probably damaging |
Het |
Klf3 |
A |
G |
5: 64,974,123 (GRCm39) |
M3V |
possibly damaging |
Het |
Ldb3 |
T |
A |
14: 34,266,157 (GRCm39) |
E417D |
probably damaging |
Het |
Lrch1 |
A |
T |
14: 74,994,503 (GRCm39) |
D673E |
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,474,087 (GRCm39) |
K865E |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,589,104 (GRCm39) |
V754I |
possibly damaging |
Het |
Nek4 |
A |
G |
14: 30,692,219 (GRCm39) |
N223D |
probably benign |
Het |
Nell2 |
G |
A |
15: 95,194,060 (GRCm39) |
T551M |
probably damaging |
Het |
Nup155 |
T |
A |
15: 8,183,163 (GRCm39) |
M1241K |
probably damaging |
Het |
Or2t49 |
A |
T |
11: 58,393,020 (GRCm39) |
S121T |
possibly damaging |
Het |
Or5i1 |
T |
C |
2: 87,613,720 (GRCm39) |
F279L |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,445,984 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
C |
5: 14,764,343 (GRCm39) |
I4272T |
unknown |
Het |
Ppp1r12c |
A |
G |
7: 4,500,344 (GRCm39) |
|
probably benign |
Het |
Prcp |
A |
G |
7: 92,559,416 (GRCm39) |
E160G |
probably benign |
Het |
Prl3d3 |
G |
A |
13: 27,343,090 (GRCm39) |
R92Q |
possibly damaging |
Het |
Prl6a1 |
T |
A |
13: 27,500,347 (GRCm39) |
M106K |
possibly damaging |
Het |
Slc22a1 |
T |
A |
17: 12,869,749 (GRCm39) |
|
probably benign |
Het |
Smtn |
A |
G |
11: 3,476,326 (GRCm39) |
|
probably null |
Het |
Snx30 |
T |
C |
4: 59,886,404 (GRCm39) |
|
probably benign |
Het |
Spock2 |
A |
G |
10: 59,967,209 (GRCm39) |
D393G |
unknown |
Het |
Trem3 |
T |
G |
17: 48,556,829 (GRCm39) |
L100R |
probably damaging |
Het |
Trpm2 |
A |
T |
10: 77,781,659 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,745,386 (GRCm39) |
M901V |
probably benign |
Het |
Usp28 |
T |
A |
9: 48,948,513 (GRCm39) |
S873T |
probably damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,856 (GRCm39) |
I7V |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,338,959 (GRCm39) |
L400P |
probably damaging |
Het |
|
Other mutations in Slco3a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00897:Slco3a1
|
APN |
7 |
74,153,931 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01583:Slco3a1
|
APN |
7 |
73,934,198 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01929:Slco3a1
|
APN |
7 |
73,968,353 (GRCm39) |
splice site |
probably benign |
|
IGL01991:Slco3a1
|
APN |
7 |
73,934,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02380:Slco3a1
|
APN |
7 |
74,204,238 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03269:Slco3a1
|
APN |
7 |
73,968,280 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0052:Slco3a1
|
UTSW |
7 |
74,154,074 (GRCm39) |
missense |
probably benign |
0.00 |
R0052:Slco3a1
|
UTSW |
7 |
74,154,074 (GRCm39) |
missense |
probably benign |
0.00 |
R0317:Slco3a1
|
UTSW |
7 |
74,154,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R0545:Slco3a1
|
UTSW |
7 |
73,970,301 (GRCm39) |
nonsense |
probably null |
|
R0613:Slco3a1
|
UTSW |
7 |
73,996,382 (GRCm39) |
unclassified |
probably benign |
|
R1488:Slco3a1
|
UTSW |
7 |
73,996,449 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1506:Slco3a1
|
UTSW |
7 |
74,009,683 (GRCm39) |
splice site |
probably null |
|
R1571:Slco3a1
|
UTSW |
7 |
74,154,128 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1912:Slco3a1
|
UTSW |
7 |
74,154,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Slco3a1
|
UTSW |
7 |
73,996,419 (GRCm39) |
missense |
probably benign |
0.08 |
R2382:Slco3a1
|
UTSW |
7 |
73,996,524 (GRCm39) |
missense |
probably benign |
0.00 |
R3735:Slco3a1
|
UTSW |
7 |
74,154,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R3894:Slco3a1
|
UTSW |
7 |
73,934,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R4151:Slco3a1
|
UTSW |
7 |
74,009,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R4175:Slco3a1
|
UTSW |
7 |
73,968,302 (GRCm39) |
missense |
probably damaging |
0.97 |
R4303:Slco3a1
|
UTSW |
7 |
74,204,276 (GRCm39) |
missense |
probably benign |
0.03 |
R4462:Slco3a1
|
UTSW |
7 |
74,204,311 (GRCm39) |
missense |
probably benign |
0.18 |
R4702:Slco3a1
|
UTSW |
7 |
73,970,315 (GRCm39) |
missense |
probably damaging |
0.98 |
R4896:Slco3a1
|
UTSW |
7 |
73,970,304 (GRCm39) |
missense |
probably null |
1.00 |
R5419:Slco3a1
|
UTSW |
7 |
73,934,363 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5561:Slco3a1
|
UTSW |
7 |
73,968,247 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5597:Slco3a1
|
UTSW |
7 |
73,934,210 (GRCm39) |
missense |
probably benign |
0.31 |
R5698:Slco3a1
|
UTSW |
7 |
73,996,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R6086:Slco3a1
|
UTSW |
7 |
73,968,338 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6117:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
R6118:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
R6123:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
R6124:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
R6125:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
R7147:Slco3a1
|
UTSW |
7 |
74,154,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R7332:Slco3a1
|
UTSW |
7 |
73,968,232 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7335:Slco3a1
|
UTSW |
7 |
73,934,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R7646:Slco3a1
|
UTSW |
7 |
74,154,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Slco3a1
|
UTSW |
7 |
73,968,344 (GRCm39) |
missense |
probably benign |
0.00 |
R8024:Slco3a1
|
UTSW |
7 |
74,204,218 (GRCm39) |
missense |
probably benign |
0.24 |
R8128:Slco3a1
|
UTSW |
7 |
73,934,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R8184:Slco3a1
|
UTSW |
7 |
74,009,577 (GRCm39) |
missense |
probably benign |
0.01 |
R8192:Slco3a1
|
UTSW |
7 |
73,970,338 (GRCm39) |
missense |
probably benign |
0.13 |
R8279:Slco3a1
|
UTSW |
7 |
73,934,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8511:Slco3a1
|
UTSW |
7 |
73,952,990 (GRCm39) |
missense |
probably benign |
0.33 |
R8732:Slco3a1
|
UTSW |
7 |
73,934,054 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8933:Slco3a1
|
UTSW |
7 |
73,934,248 (GRCm39) |
nonsense |
probably null |
|
R8987:Slco3a1
|
UTSW |
7 |
73,970,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9138:Slco3a1
|
UTSW |
7 |
74,009,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R9177:Slco3a1
|
UTSW |
7 |
73,952,946 (GRCm39) |
missense |
probably benign |
0.40 |
R9268:Slco3a1
|
UTSW |
7 |
73,952,946 (GRCm39) |
missense |
probably benign |
0.40 |
R9310:Slco3a1
|
UTSW |
7 |
74,204,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R9342:Slco3a1
|
UTSW |
7 |
74,154,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R9347:Slco3a1
|
UTSW |
7 |
73,934,153 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9422:Slco3a1
|
UTSW |
7 |
73,946,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R9556:Slco3a1
|
UTSW |
7 |
74,201,905 (GRCm39) |
missense |
probably benign |
0.00 |
R9560:Slco3a1
|
UTSW |
7 |
74,153,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R9709:Slco3a1
|
UTSW |
7 |
73,952,957 (GRCm39) |
missense |
possibly damaging |
0.62 |
X0017:Slco3a1
|
UTSW |
7 |
73,934,108 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Slco3a1
|
UTSW |
7 |
73,925,762 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-06-21 |