Incidental Mutation 'R5156:Slco4a1'
| ID |
396714 |
| 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 |
042738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180098038-180116660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180114572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 588
(V588A)
|
| 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: V588A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: V588A
| 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: V588A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: V588A
| 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
|
| Meta Mutation Damage Score |
0.0896 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
T |
17: 79,935,638 (GRCm39) |
|
probably benign |
Het |
| Apeh |
C |
T |
9: 107,971,486 (GRCm39) |
A29T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,826,524 (GRCm39) |
Y1013* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,762,355 (GRCm39) |
E537G |
unknown |
Het |
| Asf1b |
T |
C |
8: 84,682,540 (GRCm39) |
F28S |
probably damaging |
Het |
| Cd46 |
T |
A |
1: 194,767,693 (GRCm39) |
I123L |
possibly damaging |
Het |
| Cdca7 |
A |
T |
2: 72,309,370 (GRCm39) |
T48S |
probably damaging |
Het |
| Cfap53 |
T |
A |
18: 74,492,838 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,511,599 (GRCm39) |
T599S |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,656,252 (GRCm39) |
T148S |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,699,400 (GRCm39) |
|
probably null |
Het |
| Dmpk |
A |
G |
7: 18,818,050 (GRCm39) |
D44G |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,728,782 (GRCm39) |
N223K |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,595,264 (GRCm39) |
M1392K |
probably benign |
Het |
| Edrf1 |
C |
T |
7: 133,261,908 (GRCm39) |
A867V |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,527,706 (GRCm39) |
C94S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,666,037 (GRCm39) |
S373N |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,434,588 (GRCm39) |
D284G |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,678,366 (GRCm39) |
R29S |
possibly damaging |
Het |
| Gm13991 |
T |
C |
2: 116,358,665 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
A |
T |
7: 38,101,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
T |
A |
8: 111,336,333 (GRCm39) |
C5037S |
probably benign |
Het |
| Ikzf1 |
T |
A |
11: 11,719,448 (GRCm39) |
M492K |
probably damaging |
Het |
| Krt20 |
G |
T |
11: 99,320,879 (GRCm39) |
S394R |
possibly damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,653,094 (GRCm39) |
R107S |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,219,323 (GRCm39) |
T436A |
possibly damaging |
Het |
| Muc19 |
T |
A |
15: 91,784,614 (GRCm39) |
|
noncoding transcript |
Het |
| Neu4 |
T |
C |
1: 93,952,177 (GRCm39) |
V182A |
probably damaging |
Het |
| Notch2 |
T |
G |
3: 98,031,626 (GRCm39) |
F1167V |
possibly damaging |
Het |
| Nrap |
A |
G |
19: 56,360,277 (GRCm39) |
M189T |
possibly damaging |
Het |
| Nt5m |
A |
T |
11: 59,765,487 (GRCm39) |
I172F |
probably damaging |
Het |
| Or5b118 |
G |
T |
19: 13,449,037 (GRCm39) |
K234N |
probably damaging |
Het |
| Or5w15 |
G |
A |
2: 87,568,119 (GRCm39) |
P183L |
possibly damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,362 (GRCm39) |
C241* |
probably null |
Het |
| Plekha5 |
C |
T |
6: 140,372,254 (GRCm39) |
T68M |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,392,461 (GRCm39) |
|
probably null |
Het |
| Ppp1r37 |
T |
C |
7: 19,295,900 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
T |
C |
10: 84,704,218 (GRCm39) |
Y238H |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,543,424 (GRCm39) |
|
probably null |
Het |
| Sec13 |
G |
A |
6: 113,707,837 (GRCm39) |
A161V |
probably benign |
Het |
| Serhl |
G |
A |
15: 82,986,895 (GRCm39) |
|
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,592 (GRCm39) |
T727A |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,601,404 (GRCm39) |
D241E |
probably damaging |
Het |
| Spata2 |
G |
T |
2: 167,325,494 (GRCm39) |
H442N |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,404,731 (GRCm39) |
V2588A |
probably damaging |
Het |
| Tnfsf12 |
A |
G |
11: 69,578,155 (GRCm39) |
S141P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,219,762 (GRCm39) |
I2166M |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,187,948 (GRCm39) |
V388E |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,143,466 (GRCm39) |
V828A |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,436 (GRCm39) |
L455F |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,221,666 (GRCm39) |
S541T |
probably benign |
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 |
|
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'- CCCGGAAACTTCTGCCTTTG -3'
(R):5'- AGTCCTGGGCAAGTTCAAGG -3'
Sequencing Primer
(F):5'- AAACTTCTGCCTTTGTGTGATCAG -3'
(R):5'- TGCCAAGCACCTCTTTGGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation