Incidental Mutation 'R4271:Slco4a1'
| ID |
322148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco4a1
|
| Ensembl Gene |
ENSMUSG00000038963 |
| Gene Name |
solute carrier organic anion transporter family, member 4a1 |
| Synonyms |
Slc21a12, OATP-E |
| MMRRC Submission |
041076-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4271 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180456245-180474867 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180474210 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 713
(D713G)
|
| 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: D713G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: D713G
| 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: D713G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: D713G
| 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: ENSMUST00000139902
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
G |
2: 104,026,204 (GRCm38) |
|
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,166,618 (GRCm38) |
|
probably null |
Het |
| Actr6 |
T |
A |
10: 89,717,239 (GRCm38) |
R252S |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 118,121,899 (GRCm38) |
|
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,982,040 (GRCm38) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,121,195 (GRCm38) |
S327P |
probably damaging |
Het |
| B430203G13Rik |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
12: 17,924,357 (GRCm38) |
|
noncoding transcript |
Het |
| C1galt1 |
T |
C |
6: 7,866,607 (GRCm38) |
F151S |
probably damaging |
Het |
| C1qtnf6 |
G |
A |
15: 78,525,266 (GRCm38) |
T127I |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,947,219 (GRCm38) |
Q516K |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 102,664,626 (GRCm38) |
D326V |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,762,475 (GRCm38) |
H1360Y |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,420,725 (GRCm38) |
E484G |
probably benign |
Het |
| Chml |
G |
A |
1: 175,687,794 (GRCm38) |
T187M |
probably benign |
Het |
| Chpt1 |
C |
T |
10: 88,481,352 (GRCm38) |
|
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,697,982 (GRCm38) |
S618P |
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,342,370 (GRCm38) |
V1483L |
possibly damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,879,101 (GRCm38) |
M244L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,734,054 (GRCm38) |
I59T |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,324,375 (GRCm38) |
F414L |
probably damaging |
Het |
| Gm1110 |
A |
T |
9: 26,895,648 (GRCm38) |
|
probably null |
Het |
| Gsap |
T |
C |
5: 21,226,350 (GRCm38) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,189,618 (GRCm38) |
Y111C |
probably damaging |
Het |
| Hectd4 |
AGCGGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGGCGG |
5: 121,220,504 (GRCm38) |
|
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,170,746 (GRCm38) |
Q146R |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,173,414 (GRCm38) |
S460F |
probably damaging |
Het |
| Klhl15 |
AG |
A |
X: 94,253,112 (GRCm38) |
|
probably null |
Het |
| Lims1 |
T |
C |
10: 58,410,204 (GRCm38) |
|
probably null |
Het |
| Nbr1 |
T |
C |
11: 101,567,222 (GRCm38) |
Y276H |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,456,634 (GRCm38) |
D242G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,737,967 (GRCm38) |
L340Q |
probably damaging |
Het |
| Or4n4b |
A |
T |
14: 50,298,451 (GRCm38) |
I286N |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,630,353 (GRCm38) |
Y120* |
probably null |
Het |
| Osbpl5 |
G |
T |
7: 143,695,602 (GRCm38) |
Y543* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,953,022 (GRCm38) |
E898K |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,178,283 (GRCm38) |
I91K |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,693,626 (GRCm38) |
A1165V |
probably benign |
Het |
| Rimbp2 |
T |
G |
5: 128,819,777 (GRCm38) |
N23T |
probably benign |
Het |
| Scp2 |
T |
C |
4: 108,085,211 (GRCm38) |
D306G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,720,949 (GRCm38) |
|
probably null |
Het |
| Spem2 |
T |
C |
11: 69,817,425 (GRCm38) |
Y238C |
probably damaging |
Het |
| Srpk2 |
T |
A |
5: 23,548,515 (GRCm38) |
H80L |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,181,512 (GRCm38) |
L365P |
probably damaging |
Het |
| Tsnax |
T |
C |
8: 125,032,729 (GRCm38) |
L243P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,901,635 (GRCm38) |
|
probably benign |
Het |
| V1rd19 |
A |
G |
7: 24,003,414 (GRCm38) |
T102A |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,243,678 (GRCm38) |
I783M |
probably damaging |
Het |
| Zeb1 |
C |
A |
18: 5,758,985 (GRCm38) |
Q148K |
probably damaging |
Het |
|
| Other mutations in Slco4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01745:Slco4a1
|
APN |
2 |
180,464,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01982:Slco4a1
|
APN |
2 |
180,473,153 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02297:Slco4a1
|
APN |
2 |
180,464,489 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL02368:Slco4a1
|
APN |
2 |
180,473,128 (GRCm38) |
missense |
probably damaging |
0.98 |
|
conduit
|
UTSW |
2 |
180,473,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ingress
|
UTSW |
2 |
180,465,677 (GRCm38) |
missense |
probably benign |
|
|
R1621:Slco4a1
|
UTSW |
2 |
180,471,132 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2275:Slco4a1
|
UTSW |
2 |
180,464,736 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2472:Slco4a1
|
UTSW |
2 |
180,467,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3851:Slco4a1
|
UTSW |
2 |
180,464,091 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3852:Slco4a1
|
UTSW |
2 |
180,464,091 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4439:Slco4a1
|
UTSW |
2 |
180,472,662 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4571:Slco4a1
|
UTSW |
2 |
180,464,378 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4732:Slco4a1
|
UTSW |
2 |
180,473,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4733:Slco4a1
|
UTSW |
2 |
180,473,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4925:Slco4a1
|
UTSW |
2 |
180,472,056 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5156:Slco4a1
|
UTSW |
2 |
180,472,779 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5186:Slco4a1
|
UTSW |
2 |
180,473,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5252:Slco4a1
|
UTSW |
2 |
180,464,459 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5426:Slco4a1
|
UTSW |
2 |
180,471,235 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5470:Slco4a1
|
UTSW |
2 |
180,474,114 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5512:Slco4a1
|
UTSW |
2 |
180,474,114 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6969:Slco4a1
|
UTSW |
2 |
180,464,808 (GRCm38) |
missense |
probably benign |
|
|
R7133:Slco4a1
|
UTSW |
2 |
180,472,063 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7249:Slco4a1
|
UTSW |
2 |
180,464,811 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7357:Slco4a1
|
UTSW |
2 |
180,472,137 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7442:Slco4a1
|
UTSW |
2 |
180,474,126 (GRCm38) |
missense |
probably benign |
|
|
R7599:Slco4a1
|
UTSW |
2 |
180,471,255 (GRCm38) |
missense |
probably benign |
|
|
R7750:Slco4a1
|
UTSW |
2 |
180,471,237 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7834:Slco4a1
|
UTSW |
2 |
180,465,677 (GRCm38) |
missense |
probably benign |
|
|
R8203:Slco4a1
|
UTSW |
2 |
180,464,799 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8504:Slco4a1
|
UTSW |
2 |
180,464,799 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9166:Slco4a1
|
UTSW |
2 |
180,464,241 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9170:Slco4a1
|
UTSW |
2 |
180,464,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9210:Slco4a1
|
UTSW |
2 |
180,472,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9455:Slco4a1
|
UTSW |
2 |
180,473,577 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9516:Slco4a1
|
UTSW |
2 |
180,474,150 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Z1177:Slco4a1
|
UTSW |
2 |
180,464,564 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Slco4a1
|
UTSW |
2 |
180,464,381 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTACACCGGCACTCACAG -3'
(R):5'- TGTGACCCCTATGACACACG -3'
Sequencing Primer
(F):5'- TCACAGCTGGGCAGAATCC -3'
(R):5'- TCAGAGGCTGCTCAGTCACAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation