Incidental Mutation 'IGL02368:Slco4a1'
| ID |
290817 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco4a1
|
| Ensembl Gene |
ENSMUSG00000038963 |
| Gene Name |
solute carrier organic anion transporter family, member 4a1 |
| Synonyms |
OATP-E, Slc21a12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
180098038-180116660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 180114921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 615
(F615V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038225]
[ENSMUST00000038259]
|
| AlphaFold |
Q8K078 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038225
AA Change: F615V
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: F615V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
Pfam:OATP
|
103 |
665 |
5.7e-168 |
PFAM |
|
Pfam:MFS_1
|
105 |
496 |
3e-15 |
PFAM |
|
Pfam:Kazal_2
|
512 |
555 |
1.1e-7 |
PFAM |
|
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038259
AA Change: F615V
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: F615V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
Pfam:OATP
|
101 |
666 |
2.8e-172 |
PFAM |
|
Pfam:MFS_1
|
105 |
496 |
2.5e-15 |
PFAM |
|
Pfam:Kazal_2
|
512 |
555 |
7.7e-8 |
PFAM |
|
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139902
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
| Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
| Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,603,724 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
| Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Eya2 |
T |
A |
2: 165,605,638 (GRCm39) |
D347E |
probably damaging |
Het |
| Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,026 (GRCm39) |
F173L |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
| Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
| Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,403,357 (GRCm39) |
V48A |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,337 (GRCm39) |
Y255H |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,814,904 (GRCm39) |
D200G |
probably benign |
Het |
| Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
| Timp4 |
A |
T |
6: 115,223,360 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slco4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01745:Slco4a1
|
APN |
2 |
180,106,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Slco4a1
|
APN |
2 |
180,114,946 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02297:Slco4a1
|
APN |
2 |
180,106,282 (GRCm39) |
missense |
probably benign |
0.16 |
|
conduit
|
UTSW |
2 |
180,115,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ingress
|
UTSW |
2 |
180,107,470 (GRCm39) |
missense |
probably benign |
|
|
R1621:Slco4a1
|
UTSW |
2 |
180,112,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2275:Slco4a1
|
UTSW |
2 |
180,106,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2472:Slco4a1
|
UTSW |
2 |
180,108,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3851:Slco4a1
|
UTSW |
2 |
180,105,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3852:Slco4a1
|
UTSW |
2 |
180,105,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4271:Slco4a1
|
UTSW |
2 |
180,116,003 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4439:Slco4a1
|
UTSW |
2 |
180,114,455 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4571:Slco4a1
|
UTSW |
2 |
180,106,171 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4732:Slco4a1
|
UTSW |
2 |
180,115,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Slco4a1
|
UTSW |
2 |
180,115,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4925:Slco4a1
|
UTSW |
2 |
180,113,849 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5156:Slco4a1
|
UTSW |
2 |
180,114,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5186:Slco4a1
|
UTSW |
2 |
180,114,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5252:Slco4a1
|
UTSW |
2 |
180,106,252 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5426:Slco4a1
|
UTSW |
2 |
180,113,028 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5470:Slco4a1
|
UTSW |
2 |
180,115,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5512:Slco4a1
|
UTSW |
2 |
180,115,907 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6969:Slco4a1
|
UTSW |
2 |
180,106,601 (GRCm39) |
missense |
probably benign |
|
|
R7133:Slco4a1
|
UTSW |
2 |
180,113,856 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7249:Slco4a1
|
UTSW |
2 |
180,106,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7357:Slco4a1
|
UTSW |
2 |
180,113,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7442:Slco4a1
|
UTSW |
2 |
180,115,919 (GRCm39) |
missense |
probably benign |
|
|
R7599:Slco4a1
|
UTSW |
2 |
180,113,048 (GRCm39) |
missense |
probably benign |
|
|
R7750:Slco4a1
|
UTSW |
2 |
180,113,030 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7834:Slco4a1
|
UTSW |
2 |
180,107,470 (GRCm39) |
missense |
probably benign |
|
|
R8203:Slco4a1
|
UTSW |
2 |
180,106,592 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8504:Slco4a1
|
UTSW |
2 |
180,106,592 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9166:Slco4a1
|
UTSW |
2 |
180,106,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9170:Slco4a1
|
UTSW |
2 |
180,106,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9210:Slco4a1
|
UTSW |
2 |
180,114,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9455:Slco4a1
|
UTSW |
2 |
180,115,370 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9516:Slco4a1
|
UTSW |
2 |
180,115,943 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Slco4a1
|
UTSW |
2 |
180,106,357 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Slco4a1
|
UTSW |
2 |
180,106,174 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-04-16 |
Incidental Mutation