Incidental Mutation 'IGL00897:Slco3a1'
| ID |
27755 |
| 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: 0.118)
|
| Stock # |
IGL00897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74153931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 214
(Y214N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
[ENSMUST00000107453]
[ENSMUST00000138099]
|
| AlphaFold |
Q8R3L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026897
AA Change: Y214N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: Y214N
| 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: Y214N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: Y214N
| 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: Y214N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: Y214N
| 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 |
noncoding transcript
Transcript: ENSMUST00000129292
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116946
Gene: ENSMUSG00000025790
AA Change: Y175N
| 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 |
noncoding transcript
Transcript: ENSMUST00000136389
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,815,348 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,502 (GRCm39) |
Y64C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,604,187 (GRCm39) |
E1302D |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,145 (GRCm39) |
I1344T |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,882 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ccnb1 |
A |
G |
13: 100,922,419 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,254,723 (GRCm39) |
D1304G |
probably benign |
Het |
| Ctsq |
C |
A |
13: 61,185,539 (GRCm39) |
V201F |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,990,847 (GRCm39) |
D293N |
probably damaging |
Het |
| Epb41 |
T |
A |
4: 131,727,508 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,078 (GRCm39) |
E1421G |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,526,664 (GRCm39) |
Y873F |
probably benign |
Het |
| Fos |
C |
T |
12: 85,523,120 (GRCm39) |
T344I |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,206,264 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,639,836 (GRCm39) |
T846A |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,011 (GRCm39) |
V351A |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,291,921 (GRCm39) |
M846T |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,352,225 (GRCm39) |
F604L |
possibly damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,771 (GRCm39) |
R156L |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,944,619 (GRCm39) |
E379G |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,365,518 (GRCm39) |
L119P |
probably damaging |
Het |
| Neurod2 |
C |
T |
11: 98,218,595 (GRCm39) |
V190M |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,422,727 (GRCm39) |
N371K |
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,214,993 (GRCm38) |
C340S |
probably benign |
Het |
| Nsg1 |
A |
T |
5: 38,302,060 (GRCm39) |
V117D |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,780 (GRCm39) |
D50E |
possibly damaging |
Het |
| Or7e168 |
T |
G |
9: 19,719,917 (GRCm39) |
V101G |
probably damaging |
Het |
| Paqr4 |
T |
C |
17: 23,956,544 (GRCm39) |
D273G |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,813,718 (GRCm39) |
T686A |
probably benign |
Het |
| Ppp1r8 |
G |
A |
4: 132,555,213 (GRCm39) |
A335V |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,557 (GRCm39) |
Y65* |
probably null |
Het |
| Tmem232 |
T |
C |
17: 65,563,569 (GRCm39) |
E608G |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,019 (GRCm39) |
Y137F |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,921 (GRCm39) |
I725T |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,007 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slco3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation