Incidental Mutation 'IGL02380:Slco3a1'
ID |
291347 |
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 # |
IGL02380
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 74204238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 34
(S34F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103077
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
[ENSMUST00000107453]
[ENSMUST00000138099]
|
AlphaFold |
Q8R3L5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026897
AA Change: S34F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000026897 Gene: ENSMUSG00000025790 AA Change: S34F
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: S34F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000095973 Gene: ENSMUSG00000025790 AA Change: S34F
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107453
AA Change: S34F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103077 Gene: ENSMUSG00000025790 AA Change: S34F
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
45 |
456 |
2e-27 |
PFAM |
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
low complexity region
|
574 |
589 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134539
|
SMART Domains |
Protein: ENSMUSP00000116946 Gene: ENSMUSG00000025790
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
3 |
181 |
1.6e-56 |
PFAM |
Pfam:MFS_1
|
6 |
183 |
3.3e-10 |
PFAM |
Pfam:OATP
|
179 |
219 |
2.5e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138099
|
SMART Domains |
Protein: ENSMUSP00000115279 Gene: ENSMUSG00000025790
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
26 |
165 |
2.4e-47 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
C |
A |
7: 40,643,968 (GRCm39) |
P546T |
possibly damaging |
Het |
Abca13 |
T |
C |
11: 9,241,599 (GRCm39) |
I1154T |
possibly damaging |
Het |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acsm5 |
A |
T |
7: 119,136,509 (GRCm39) |
Q360L |
probably benign |
Het |
Adamtsl5 |
T |
C |
10: 80,177,612 (GRCm39) |
E350G |
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,534,125 (GRCm39) |
L1017* |
probably null |
Het |
Aqr |
T |
C |
2: 113,940,417 (GRCm39) |
D1243G |
probably damaging |
Het |
Arhgef17 |
G |
T |
7: 100,578,650 (GRCm39) |
P766Q |
possibly damaging |
Het |
Bclaf1 |
T |
C |
10: 20,201,113 (GRCm39) |
V413A |
possibly damaging |
Het |
Bcr |
A |
G |
10: 75,011,131 (GRCm39) |
D14G |
probably benign |
Het |
Cadps2 |
C |
T |
6: 23,287,731 (GRCm39) |
V1190I |
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,856,086 (GRCm39) |
I709V |
possibly damaging |
Het |
Cnbd1 |
C |
A |
4: 18,887,748 (GRCm39) |
|
probably null |
Het |
Cnbd1 |
T |
A |
4: 18,887,749 (GRCm39) |
|
probably null |
Het |
Col4a3 |
T |
C |
1: 82,650,509 (GRCm39) |
|
probably benign |
Het |
Coro1a |
T |
A |
7: 126,302,288 (GRCm39) |
K20* |
probably null |
Het |
Crb2 |
T |
A |
2: 37,673,447 (GRCm39) |
D114E |
probably damaging |
Het |
Dnah6 |
C |
A |
6: 73,053,623 (GRCm39) |
K2870N |
probably benign |
Het |
Fpr3 |
A |
G |
17: 18,191,254 (GRCm39) |
H175R |
probably benign |
Het |
Gk5 |
T |
G |
9: 96,032,533 (GRCm39) |
S248A |
possibly damaging |
Het |
Grm4 |
T |
A |
17: 27,653,635 (GRCm39) |
I772F |
probably damaging |
Het |
Gstt4 |
A |
G |
10: 75,653,073 (GRCm39) |
I163T |
possibly damaging |
Het |
Hr |
A |
G |
14: 70,795,201 (GRCm39) |
R278G |
probably damaging |
Het |
Igfbp5 |
T |
A |
1: 72,903,108 (GRCm39) |
R156* |
probably null |
Het |
Ighv1-4 |
G |
A |
12: 114,450,753 (GRCm39) |
|
probably benign |
Het |
Insyn2a |
A |
T |
7: 134,500,873 (GRCm39) |
|
probably null |
Het |
Kcna2 |
A |
C |
3: 107,012,274 (GRCm39) |
Q285P |
probably benign |
Het |
Klf5 |
A |
T |
14: 99,538,894 (GRCm39) |
R102S |
possibly damaging |
Het |
Ldb1 |
A |
T |
19: 46,022,929 (GRCm39) |
M252K |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,787,009 (GRCm39) |
I114V |
possibly damaging |
Het |
Map1b |
A |
T |
13: 99,567,651 (GRCm39) |
I1690N |
unknown |
Het |
Myo1a |
A |
G |
10: 127,550,354 (GRCm39) |
T565A |
probably benign |
Het |
Nt5c |
T |
C |
11: 115,382,127 (GRCm39) |
D84G |
possibly damaging |
Het |
Pde1b |
A |
G |
15: 103,428,417 (GRCm39) |
N51S |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,295,180 (GRCm39) |
L1437Q |
probably damaging |
Het |
Pld5 |
C |
T |
1: 175,967,610 (GRCm39) |
V82I |
probably damaging |
Het |
Psmb6 |
T |
A |
11: 70,416,737 (GRCm39) |
N42K |
probably benign |
Het |
Slfn9 |
A |
G |
11: 82,872,046 (GRCm39) |
Y897H |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,581,033 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tmem215 |
A |
T |
4: 40,474,534 (GRCm39) |
I204F |
probably benign |
Het |
Txnl1 |
A |
G |
18: 63,807,114 (GRCm39) |
|
probably null |
Het |
Ube2q2 |
T |
A |
9: 55,070,296 (GRCm39) |
D79E |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,484,658 (GRCm39) |
D122G |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,507,383 (GRCm39) |
I643K |
probably benign |
Het |
Xkrx |
T |
A |
X: 133,051,388 (GRCm39) |
H421L |
probably benign |
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 |
IGL01124:Slco3a1
|
APN |
7 |
73,934,295 (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 |
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 |
2015-04-16 |