Incidental Mutation 'R5641:Slco1a1'
| ID |
440669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a1
|
| Ensembl Gene |
ENSMUSG00000041698 |
| Gene Name |
solute carrier organic anion transporter family, member 1a1 |
| Synonyms |
Slc21a1, Oatp1a1, Oatp1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R5641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141853008-141892688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141885695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 110
(M110K)
|
| 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: M110K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: M110K
| 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: M110K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: M110K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,289,877 (GRCm39) |
M1398L |
probably benign |
Het |
| Acad12 |
A |
G |
5: 121,742,084 (GRCm39) |
|
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,693,293 (GRCm39) |
I209V |
probably benign |
Het |
| Alkal2 |
G |
A |
12: 30,937,264 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
G |
2: 113,979,515 (GRCm39) |
F307L |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,595,639 (GRCm39) |
L932P |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,013,638 (GRCm38) |
M113T |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,134,038 (GRCm39) |
M4L |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,480,364 (GRCm39) |
S2711R |
probably damaging |
Het |
| Bzw1 |
A |
T |
1: 58,436,883 (GRCm39) |
Q70L |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,630,276 (GRCm39) |
I70N |
probably benign |
Het |
| Chac1 |
A |
G |
2: 119,181,999 (GRCm39) |
Y39C |
probably damaging |
Het |
| Col6a2 |
G |
C |
10: 76,449,112 (GRCm39) |
P275A |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,176,627 (GRCm39) |
N452I |
probably damaging |
Het |
| Ctrc |
T |
C |
4: 141,566,094 (GRCm39) |
N188S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,307,924 (GRCm39) |
|
probably null |
Het |
| Etl4 |
GGGGAAGAACCGG |
GGG |
2: 20,811,273 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,576,081 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
T |
A |
9: 48,361,716 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7535 |
T |
C |
17: 18,131,788 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,059,798 (GRCm39) |
S200P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,767 (GRCm39) |
N121S |
unknown |
Het |
| Il21 |
T |
A |
3: 37,281,917 (GRCm39) |
K76* |
probably null |
Het |
| Jup |
T |
A |
11: 100,267,632 (GRCm39) |
T564S |
possibly damaging |
Het |
| Kcns2 |
G |
C |
15: 34,839,199 (GRCm39) |
R187S |
possibly damaging |
Het |
| Klhl18 |
G |
A |
9: 110,275,896 (GRCm39) |
T84M |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,882 (GRCm39) |
L2280M |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,756 (GRCm39) |
I226T |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,396,196 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Nlrp4a |
T |
A |
7: 26,149,589 (GRCm39) |
C399S |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,913,352 (GRCm39) |
K54E |
probably damaging |
Het |
| Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
| Oosp3 |
T |
C |
19: 11,674,537 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
A |
G |
14: 50,272,746 (GRCm39) |
I38T |
probably benign |
Het |
| Pcdhga9 |
T |
C |
18: 37,871,301 (GRCm39) |
S377P |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,368,300 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
T |
2: 60,345,328 (GRCm39) |
W343R |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,134,721 (GRCm39) |
V520A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,771,008 (GRCm39) |
|
probably null |
Het |
| Rif1 |
A |
C |
2: 52,011,170 (GRCm39) |
R2412S |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,131,397 (GRCm39) |
L1517P |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,594,199 (GRCm39) |
N65S |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,038,108 (GRCm39) |
E399G |
probably damaging |
Het |
| Slc36a4 |
A |
C |
9: 15,640,098 (GRCm39) |
|
probably null |
Het |
| Stat5a |
T |
A |
11: 100,767,634 (GRCm39) |
C401S |
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tmem150c |
T |
C |
5: 100,231,523 (GRCm39) |
T151A |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,862,179 (GRCm39) |
M173K |
probably damaging |
Het |
| Vmn1r188 |
A |
T |
13: 22,272,342 (GRCm39) |
S99C |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,572 (GRCm39) |
C635Y |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,767,461 (GRCm39) |
K24E |
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 |
|
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 |
|
R6428:Slco1a1
|
UTSW |
6 |
141,871,416 (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'- TGTCACAAATGGACTGGATGG -3'
(R):5'- AGTCCAAATGTTTTAGAGGCTGTTG -3'
Sequencing Primer
(F):5'- TGGGAACTCAAATGGACCTG -3'
(R):5'- GCTGTTGTCTAAGAGCTACTAAGAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation