Incidental Mutation 'R3852:Slco4a1'
ID |
275955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco4a1
|
Ensembl Gene |
ENSMUSG00000038963 |
Gene Name |
solute carrier organic anion transporter family, member 4a1 |
Synonyms |
OATP-E, Slc21a12 |
MMRRC Submission |
040784-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R3852 (G1)
|
Quality Score |
181 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
180098038-180116660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 180105884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 22
(T22M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038225]
[ENSMUST00000038259]
|
AlphaFold |
Q8K078 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038225
AA Change: T22M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000045023 Gene: ENSMUSG00000038963 AA Change: T22M
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 benign
Transcript: ENSMUST00000038259
AA Change: T22M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000046502 Gene: ENSMUSG00000038963 AA Change: T22M
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
C |
16: 20,379,189 (GRCm39) |
V685A |
probably damaging |
Het |
Abhd4 |
T |
C |
14: 54,502,824 (GRCm39) |
Y44H |
probably damaging |
Het |
AI429214 |
A |
G |
8: 37,461,596 (GRCm39) |
D248G |
probably damaging |
Het |
Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
Ccdc34 |
A |
G |
2: 109,862,773 (GRCm39) |
K193E |
possibly damaging |
Het |
Dhcr24 |
A |
G |
4: 106,431,070 (GRCm39) |
E253G |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,104,910 (GRCm39) |
V1841A |
possibly damaging |
Het |
Dpp10 |
A |
T |
1: 123,413,653 (GRCm39) |
Y186* |
probably null |
Het |
Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
Dusp7 |
T |
A |
9: 106,251,092 (GRCm39) |
S406T |
probably benign |
Het |
Gga3 |
T |
A |
11: 115,478,368 (GRCm39) |
T475S |
probably benign |
Het |
Gm10271 |
T |
A |
10: 116,792,779 (GRCm39) |
K36* |
probably null |
Het |
Gm572 |
G |
A |
4: 148,753,329 (GRCm39) |
E325K |
possibly damaging |
Het |
Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
Igf1 |
A |
T |
10: 87,751,181 (GRCm39) |
K126* |
probably null |
Het |
Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
Klhl1 |
A |
T |
14: 96,517,641 (GRCm39) |
M345K |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,367,909 (GRCm39) |
V201A |
probably damaging |
Het |
Lrrc8a |
C |
T |
2: 30,151,972 (GRCm39) |
T757M |
probably benign |
Het |
Mios |
T |
A |
6: 8,216,453 (GRCm39) |
I459K |
probably benign |
Het |
Mrps11 |
T |
C |
7: 78,440,393 (GRCm39) |
I94T |
probably damaging |
Het |
Ms4a4c |
T |
A |
19: 11,393,759 (GRCm39) |
S68T |
probably benign |
Het |
Mstn |
C |
T |
1: 53,101,130 (GRCm39) |
T69I |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,779,712 (GRCm39) |
K28E |
probably damaging |
Het |
Nol6 |
A |
G |
4: 41,117,452 (GRCm39) |
S914P |
probably damaging |
Het |
Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
Or51f1e |
T |
C |
7: 102,747,391 (GRCm39) |
S148P |
probably damaging |
Het |
Or52b4 |
C |
A |
7: 102,184,487 (GRCm39) |
H178N |
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,684,699 (GRCm39) |
Q389* |
probably null |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Prr14l |
T |
C |
5: 32,987,689 (GRCm39) |
E602G |
probably damaging |
Het |
Rusc2 |
C |
A |
4: 43,416,424 (GRCm39) |
Q577K |
probably benign |
Het |
Sacm1l |
T |
A |
9: 123,416,641 (GRCm39) |
M534K |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Tas2r104 |
A |
T |
6: 131,661,888 (GRCm39) |
C274S |
probably benign |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Trim43c |
T |
A |
9: 88,722,454 (GRCm39) |
H33Q |
probably damaging |
Het |
Ttc17 |
A |
T |
2: 94,199,758 (GRCm39) |
I411K |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
Ttn |
A |
C |
2: 76,785,368 (GRCm39) |
V669G |
possibly damaging |
Het |
Vmn1r60 |
A |
T |
7: 5,548,026 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,995,997 (GRCm39) |
I217T |
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 |
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 |
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'- AATGTTCACGCAGATAGGGG -3'
(R):5'- AAGACCTGCAAGCACTTGG -3'
Sequencing Primer
(F):5'- TTCACGCAGATAGGGGAGCAG -3'
(R):5'- AGCCGCACAGTGAGTTCTG -3'
|
Posted On |
2015-04-06 |