Incidental Mutation 'R5252:Slco4a1'
ID |
399090 |
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 |
042823-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R5252 (G1)
|
Quality Score |
199 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180098038-180116660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 180106252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 145
(A145T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038225]
[ENSMUST00000038259]
|
AlphaFold |
Q8K078 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038225
AA Change: A145T
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045023 Gene: ENSMUSG00000038963 AA Change: A145T
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 |
possibly damaging
Transcript: ENSMUST00000038259
AA Change: A145T
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000046502 Gene: ENSMUSG00000038963 AA Change: A145T
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: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
G |
T |
11: 69,056,762 (GRCm39) |
R386L |
probably damaging |
Het |
Ano8 |
A |
T |
8: 71,935,261 (GRCm39) |
Y346N |
probably damaging |
Het |
Cabp4 |
T |
C |
19: 4,186,067 (GRCm39) |
|
probably benign |
Het |
Canx |
A |
T |
11: 50,199,621 (GRCm39) |
I148N |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,962,593 (GRCm39) |
V117A |
probably benign |
Het |
Cdk12 |
A |
T |
11: 98,134,335 (GRCm39) |
N1078Y |
unknown |
Het |
Cdk7 |
T |
A |
13: 100,866,968 (GRCm39) |
K42* |
probably null |
Het |
Col6a5 |
T |
C |
9: 105,817,489 (GRCm39) |
D274G |
unknown |
Het |
Cux1 |
T |
C |
5: 136,337,151 (GRCm39) |
E696G |
probably damaging |
Het |
Cxxc1 |
C |
T |
18: 74,353,022 (GRCm39) |
A444V |
probably benign |
Het |
Dll1 |
T |
C |
17: 15,588,951 (GRCm39) |
K575E |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,089,676 (GRCm39) |
F1130S |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,420,295 (GRCm39) |
F140L |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
Evi5 |
T |
C |
5: 107,943,618 (GRCm39) |
T592A |
probably benign |
Het |
Fas |
T |
C |
19: 34,294,043 (GRCm39) |
S133P |
probably damaging |
Het |
Gpr139 |
A |
G |
7: 118,744,427 (GRCm39) |
S53P |
probably benign |
Het |
H2-Q4 |
T |
C |
17: 35,599,411 (GRCm39) |
F165L |
probably benign |
Het |
Ighv9-2 |
A |
G |
12: 114,072,838 (GRCm39) |
V45A |
probably benign |
Het |
Inpp1 |
T |
G |
1: 52,833,706 (GRCm39) |
D130A |
probably benign |
Het |
Lin54 |
C |
T |
5: 100,628,063 (GRCm39) |
V47I |
probably benign |
Het |
Nav3 |
TGAAGAAGAAGAAGA |
TGAAGAAGAAGA |
10: 109,550,152 (GRCm39) |
|
probably benign |
Het |
Nexn |
T |
C |
3: 151,943,590 (GRCm39) |
T438A |
probably benign |
Het |
Or4c112 |
A |
T |
2: 88,853,598 (GRCm39) |
F250I |
probably damaging |
Het |
Or8g4 |
T |
G |
9: 39,661,784 (GRCm39) |
I34S |
probably damaging |
Het |
Pilrb1 |
T |
A |
5: 137,853,315 (GRCm39) |
M163L |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,420,635 (GRCm39) |
|
probably null |
Het |
Ppard |
G |
A |
17: 28,517,822 (GRCm39) |
V297I |
probably benign |
Het |
Rabgap1 |
T |
C |
2: 37,365,369 (GRCm39) |
V214A |
probably benign |
Het |
Serpinc1 |
T |
C |
1: 160,817,191 (GRCm39) |
F95S |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,742,209 (GRCm39) |
Y302H |
probably damaging |
Het |
Spata31g1 |
T |
A |
4: 42,971,706 (GRCm39) |
F346L |
probably benign |
Het |
Sptlc2 |
A |
T |
12: 87,382,829 (GRCm39) |
M425K |
possibly damaging |
Het |
Tent5c |
A |
G |
3: 100,380,024 (GRCm39) |
L244P |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,074,464 (GRCm39) |
S429P |
probably benign |
Het |
Unc13a |
T |
A |
8: 72,105,208 (GRCm39) |
T723S |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,553,914 (GRCm39) |
I3468F |
possibly damaging |
Het |
Utp20 |
A |
T |
10: 88,586,532 (GRCm39) |
D2547E |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,315,756 (GRCm39) |
L1240P |
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 |
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 |
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'- AGGTGCAGTATGTGTCCTCG -3'
(R):5'- CTGATTAGTCAGGCACGTCC -3'
Sequencing Primer
(F):5'- AGAACTCACTGTGCGGCTG -3'
(R):5'- ATTAGTCAGGCACGTCCCAGTC -3'
|
Posted On |
2016-07-06 |