Incidental Mutation 'R6428:Slco1a1'
ID |
518393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a1
|
Ensembl Gene |
ENSMUSG00000041698 |
Gene Name |
solute carrier organic anion transporter family, member 1a1 |
Synonyms |
Slc21a1, Oatp1a1, Oatp1 |
MMRRC Submission |
044421-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
R6428 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141853008-141892688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141871416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 250
(L250S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042119]
[ENSMUST00000168119]
|
AlphaFold |
Q9QXZ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042119
AA Change: L250S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037022 Gene: ENSMUSG00000041698 AA Change: L250S
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
21 |
597 |
6e-168 |
PFAM |
Pfam:MFS_1
|
22 |
410 |
4.7e-28 |
PFAM |
Pfam:Kazal_2
|
445 |
486 |
1.2e-10 |
PFAM |
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168119
AA Change: L250S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132386 Gene: ENSMUSG00000041698 AA Change: L250S
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
21 |
597 |
1.6e-168 |
PFAM |
Pfam:MFS_1
|
22 |
410 |
1e-27 |
PFAM |
Pfam:Kazal_2
|
445 |
486 |
4.6e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171651
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic anion transporter activity and urinary metabolomic profiles. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
Cts6 |
T |
G |
13: 61,344,237 (GRCm39) |
N272H |
probably damaging |
Het |
Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
Dhx9 |
C |
T |
1: 153,332,324 (GRCm39) |
|
probably benign |
Het |
Glb1l3 |
T |
C |
9: 26,770,748 (GRCm39) |
N106S |
probably damaging |
Het |
Hdlbp |
T |
C |
1: 93,359,167 (GRCm39) |
D175G |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,488,508 (GRCm39) |
K3600E |
possibly damaging |
Het |
Hspa13 |
A |
T |
16: 75,554,874 (GRCm39) |
L404Q |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,219,343 (GRCm39) |
D475G |
probably damaging |
Het |
Klhdc10 |
T |
C |
6: 30,439,855 (GRCm39) |
S13P |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,637,295 (GRCm39) |
T728I |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,963,960 (GRCm39) |
|
probably null |
Het |
Pasd1 |
CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC |
CATCTTTACCATCATGTCAAGTATCTTTACC |
X: 70,983,126 (GRCm39) |
|
probably benign |
Homo |
Phb2 |
A |
G |
6: 124,692,954 (GRCm39) |
D276G |
probably benign |
Het |
Prrc2b |
A |
G |
2: 32,116,508 (GRCm39) |
|
probably null |
Het |
Rasgrf2 |
T |
C |
13: 92,136,100 (GRCm39) |
K604R |
probably damaging |
Het |
Rp1l1 |
T |
A |
14: 64,269,838 (GRCm39) |
M1808K |
possibly damaging |
Het |
Setd3 |
T |
C |
12: 108,079,597 (GRCm39) |
D302G |
probably damaging |
Het |
Slc38a10 |
T |
A |
11: 119,996,298 (GRCm39) |
Q933L |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Vmn2r26 |
A |
G |
6: 124,003,039 (GRCm39) |
I150V |
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,710,262 (GRCm39) |
R662C |
probably damaging |
Het |
|
Other mutations in Slco1a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Slco1a1
|
APN |
6 |
141,854,851 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00942:Slco1a1
|
APN |
6 |
141,892,354 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01301:Slco1a1
|
APN |
6 |
141,878,256 (GRCm39) |
splice site |
probably benign |
|
IGL01306:Slco1a1
|
APN |
6 |
141,892,313 (GRCm39) |
nonsense |
probably null |
|
IGL01774:Slco1a1
|
APN |
6 |
141,871,339 (GRCm39) |
nonsense |
probably null |
|
IGL02097:Slco1a1
|
APN |
6 |
141,885,765 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02183:Slco1a1
|
APN |
6 |
141,867,669 (GRCm39) |
splice site |
probably benign |
|
IGL02376:Slco1a1
|
APN |
6 |
141,870,060 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02550:Slco1a1
|
APN |
6 |
141,889,191 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02559:Slco1a1
|
APN |
6 |
141,867,514 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02825:Slco1a1
|
APN |
6 |
141,864,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03352:Slco1a1
|
APN |
6 |
141,857,611 (GRCm39) |
missense |
probably benign |
0.00 |
ANU23:Slco1a1
|
UTSW |
6 |
141,892,313 (GRCm39) |
nonsense |
probably null |
|
R0041:Slco1a1
|
UTSW |
6 |
141,864,185 (GRCm39) |
splice site |
probably benign |
|
R0153:Slco1a1
|
UTSW |
6 |
141,856,427 (GRCm39) |
splice site |
probably benign |
|
R0610:Slco1a1
|
UTSW |
6 |
141,864,187 (GRCm39) |
critical splice donor site |
probably null |
|
R0646:Slco1a1
|
UTSW |
6 |
141,871,480 (GRCm39) |
splice site |
probably benign |
|
R0828:Slco1a1
|
UTSW |
6 |
141,867,565 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1674:Slco1a1
|
UTSW |
6 |
141,881,661 (GRCm39) |
missense |
probably damaging |
0.99 |
R1848:Slco1a1
|
UTSW |
6 |
141,868,837 (GRCm39) |
missense |
probably benign |
0.29 |
R3834:Slco1a1
|
UTSW |
6 |
141,889,163 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3953:Slco1a1
|
UTSW |
6 |
141,868,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R3974:Slco1a1
|
UTSW |
6 |
141,854,819 (GRCm39) |
missense |
probably benign |
0.01 |
R4081:Slco1a1
|
UTSW |
6 |
141,881,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R4729:Slco1a1
|
UTSW |
6 |
141,854,695 (GRCm39) |
missense |
probably benign |
0.00 |
R4752:Slco1a1
|
UTSW |
6 |
141,892,340 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4806:Slco1a1
|
UTSW |
6 |
141,854,735 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4812:Slco1a1
|
UTSW |
6 |
141,864,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R4963:Slco1a1
|
UTSW |
6 |
141,868,825 (GRCm39) |
missense |
probably benign |
0.26 |
R5641:Slco1a1
|
UTSW |
6 |
141,885,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R6044:Slco1a1
|
UTSW |
6 |
141,885,743 (GRCm39) |
missense |
probably benign |
0.01 |
R6211:Slco1a1
|
UTSW |
6 |
141,854,775 (GRCm39) |
missense |
probably benign |
0.20 |
R6225:Slco1a1
|
UTSW |
6 |
141,870,215 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6328:Slco1a1
|
UTSW |
6 |
141,878,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R6787:Slco1a1
|
UTSW |
6 |
141,882,213 (GRCm39) |
missense |
probably benign |
0.00 |
R7182:Slco1a1
|
UTSW |
6 |
141,857,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R7305:Slco1a1
|
UTSW |
6 |
141,870,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7328:Slco1a1
|
UTSW |
6 |
141,882,134 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7723:Slco1a1
|
UTSW |
6 |
141,854,795 (GRCm39) |
missense |
probably damaging |
0.97 |
R7784:Slco1a1
|
UTSW |
6 |
141,889,114 (GRCm39) |
missense |
probably damaging |
0.99 |
R8348:Slco1a1
|
UTSW |
6 |
141,885,787 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8448:Slco1a1
|
UTSW |
6 |
141,885,787 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8856:Slco1a1
|
UTSW |
6 |
141,857,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R9121:Slco1a1
|
UTSW |
6 |
141,892,542 (GRCm39) |
unclassified |
probably benign |
|
R9484:Slco1a1
|
UTSW |
6 |
141,854,672 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Slco1a1
|
UTSW |
6 |
141,885,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCACAAGTGACAGATGCC -3'
(R):5'- TTCAACTTCACAGAATGAGTCAACCTC -3'
Sequencing Primer
(F):5'- AGTGACAGATGCCCACTAAAC -3'
(R):5'- TAAAGGTCTGAATTACCCCCGTGAG -3'
|
Posted On |
2018-05-24 |