Incidental Mutation 'R2472:Slco4a1'
ID |
253151 |
Institutional Source |
Beutler Lab
|
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: 0.075)
|
Stock # |
R2472 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180098038-180116660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 180108880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 308
(W308L)
|
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: W308L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000045023 Gene: ENSMUSG00000038963 AA Change: W308L
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: W308L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000046502 Gene: ENSMUSG00000038963 AA Change: W308L
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: ENSMUST00000138446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139902
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,583,316 (GRCm39) |
S291P |
probably damaging |
Het |
Cbln3 |
T |
C |
14: 56,121,538 (GRCm39) |
E36G |
possibly damaging |
Het |
Cdcp1 |
A |
G |
9: 123,014,172 (GRCm39) |
F201L |
probably benign |
Het |
Crispld1 |
A |
T |
1: 17,816,052 (GRCm39) |
R142S |
probably null |
Het |
Dsc2 |
T |
A |
18: 20,178,526 (GRCm39) |
M293L |
probably benign |
Het |
Dzip3 |
A |
T |
16: 48,774,150 (GRCm39) |
S362T |
possibly damaging |
Het |
Grm4 |
C |
T |
17: 27,653,649 (GRCm39) |
C512Y |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
L1td1 |
C |
T |
4: 98,621,396 (GRCm39) |
|
probably benign |
Het |
Nav2 |
A |
G |
7: 49,058,632 (GRCm39) |
T252A |
probably benign |
Het |
Neu3 |
A |
C |
7: 99,462,614 (GRCm39) |
S370A |
probably damaging |
Het |
Nfasc |
T |
A |
1: 132,515,959 (GRCm39) |
|
probably benign |
Het |
Or2o1 |
T |
C |
11: 49,051,198 (GRCm39) |
V119A |
possibly damaging |
Het |
Ptk7 |
T |
C |
17: 46,887,774 (GRCm39) |
T553A |
probably benign |
Het |
Rap2a |
T |
C |
14: 120,716,245 (GRCm39) |
I36T |
possibly damaging |
Het |
Rinl |
A |
C |
7: 28,489,803 (GRCm39) |
D7A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec16a |
T |
C |
2: 26,329,948 (GRCm39) |
E689G |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,533,064 (GRCm39) |
I560M |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Setdb2 |
G |
A |
14: 59,656,903 (GRCm39) |
T138I |
possibly damaging |
Het |
Sgsh |
G |
T |
11: 119,246,300 (GRCm39) |
P4Q |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,611,863 (GRCm39) |
R17346S |
possibly damaging |
Het |
Ubxn4 |
A |
G |
1: 128,200,606 (GRCm39) |
R366G |
probably damaging |
Het |
Vmn2r90 |
T |
G |
17: 17,948,408 (GRCm39) |
N551K |
probably damaging |
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 |
IGL02368:Slco4a1
|
APN |
2 |
180,114,921 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCACATTAGAAGGCTTCTCC -3'
(R):5'- CGCCTCGTTAGTTGAAAGGAC -3'
Sequencing Primer
(F):5'- TAGAAGGCTTCTCCAGTCTGAAG -3'
(R):5'- CCTCGTTAGTTGAAAGGACAGAGAG -3'
|
Posted On |
2014-12-04 |