Incidental Mutation 'R1621:Slco4a1'
| ID |
174649 |
| 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 |
039658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R1621 (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 T
at 180471132 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 386
(T386S)
|
| 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: T386S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: T386S
| 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: T386S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: T386S
| 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
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,565,779 (GRCm38) |
N253S |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,721,701 (GRCm38) |
H272Y |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 39,013,901 (GRCm38) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,670,250 (GRCm38) |
V4333I |
probably benign |
Het |
| Cd38 |
A |
G |
5: 43,901,524 (GRCm38) |
D160G |
probably benign |
Het |
| Cdc7 |
A |
G |
5: 106,965,054 (GRCm38) |
S13G |
probably benign |
Het |
| Chrm5 |
G |
T |
2: 112,479,837 (GRCm38) |
D311E |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,188,472 (GRCm38) |
V140A |
possibly damaging |
Het |
| Ets2 |
A |
G |
16: 95,709,869 (GRCm38) |
D57G |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,839,874 (GRCm38) |
M1K |
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,022,867 (GRCm38) |
I514K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,056,278 (GRCm38) |
F350I |
probably damaging |
Het |
| Hs3st3a1 |
G |
T |
11: 64,436,223 (GRCm38) |
V53F |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,461,568 (GRCm38) |
S427P |
probably benign |
Het |
| Irgm2 |
T |
C |
11: 58,220,538 (GRCm38) |
F364L |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,068,713 (GRCm38) |
K29E |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,690,806 (GRCm38) |
E187G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,795,710 (GRCm38) |
M176V |
probably benign |
Het |
| Olfr373 |
A |
G |
8: 72,100,129 (GRCm38) |
Y123C |
probably damaging |
Het |
| Palm3 |
G |
A |
8: 84,030,022 (GRCm38) |
S721N |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 109,106,805 (GRCm38) |
I1088V |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 109,499,538 (GRCm38) |
H69R |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,232,860 (GRCm38) |
H54Y |
probably damaging |
Het |
| Prl6a1 |
C |
T |
13: 27,318,010 (GRCm38) |
T120I |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,229,465 (GRCm38) |
F331L |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,191,092 (GRCm38) |
D724G |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,470,470 (GRCm38) |
*307R |
probably null |
Het |
| Slc39a6 |
T |
C |
18: 24,600,889 (GRCm38) |
K248E |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,837,156 (GRCm38) |
I185V |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,785,845 (GRCm38) |
S59G |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,750,607 (GRCm38) |
I392N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,762,871 (GRCm38) |
I81T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,713,283 (GRCm38) |
L893S |
probably benign |
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 |
|
|
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 |
|
R4271:Slco4a1
|
UTSW |
2 |
180,474,210 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
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'- AATCGGCCACAGCAGTGACATAG -3'
(R):5'- AATGCTCAGGGTCTCCTTACCGAAC -3'
Sequencing Primer
(F):5'- AGTGGGGCCATTAATTCACTACC -3'
(R):5'- CTTACCGAACAGGGTGGCAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation