Incidental Mutation 'R3974:Slco1a1'
| ID |
312523 |
| 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 # |
R3974 (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 141854819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 611
(S611T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042119]
[ENSMUST00000168119]
|
| AlphaFold |
Q9QXZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042119
AA Change: S611T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: S611T
| 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 benign
Transcript: ENSMUST00000168119
|
| SMART Domains |
Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,488 (GRCm39) |
I486T |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,974,328 (GRCm39) |
M202K |
probably damaging |
Het |
| Abhd4 |
T |
A |
14: 54,500,417 (GRCm39) |
I117N |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,586,888 (GRCm39) |
Y416* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,940,986 (GRCm39) |
|
probably null |
Het |
| Cenph |
A |
G |
13: 100,900,075 (GRCm39) |
V151A |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,738,400 (GRCm39) |
V36D |
probably damaging |
Het |
| Cnbd1 |
G |
A |
4: 18,887,693 (GRCm39) |
R274C |
probably benign |
Het |
| Crot |
T |
C |
5: 9,027,541 (GRCm39) |
T264A |
probably benign |
Het |
| Dll4 |
A |
G |
2: 119,164,573 (GRCm39) |
D664G |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,087,867 (GRCm39) |
A406T |
probably benign |
Het |
| Far2 |
T |
A |
6: 148,052,252 (GRCm39) |
I177N |
probably damaging |
Het |
| Flt4 |
T |
G |
11: 49,527,567 (GRCm39) |
V910G |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,496 (GRCm39) |
R179G |
probably benign |
Het |
| Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
| Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,298,750 (GRCm39) |
Y37N |
probably damaging |
Het |
| Grn |
T |
C |
11: 102,327,165 (GRCm39) |
V559A |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,509,927 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,767,552 (GRCm39) |
Y287H |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,462,914 (GRCm39) |
T1350A |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,638,799 (GRCm39) |
I220M |
probably benign |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
| Omg |
T |
A |
11: 79,393,224 (GRCm39) |
E211D |
probably benign |
Het |
| Or52ab7 |
T |
G |
7: 102,978,285 (GRCm39) |
D197E |
probably damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,935 (GRCm39) |
I34N |
possibly damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,901 (GRCm39) |
T404A |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,374 (GRCm39) |
M905K |
probably benign |
Het |
| Plod2 |
G |
T |
9: 92,480,672 (GRCm39) |
G422* |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Ptprq |
T |
G |
10: 107,547,923 (GRCm39) |
K158N |
possibly damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,874,862 (GRCm39) |
V243A |
probably damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
| Rtn4 |
C |
T |
11: 29,657,505 (GRCm39) |
T553I |
probably damaging |
Het |
| Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
| Serpina1f |
C |
A |
12: 103,659,830 (GRCm39) |
G151* |
probably null |
Het |
| Sis |
T |
C |
3: 72,850,968 (GRCm39) |
T577A |
probably damaging |
Het |
| Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,630 (GRCm39) |
D8370G |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,502,585 (GRCm39) |
A501T |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,947,387 (GRCm39) |
C1724* |
probably null |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
| Tyw5 |
A |
T |
1: 57,430,687 (GRCm39) |
D165E |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,072,438 (GRCm39) |
|
probably null |
Het |
| Ube3b |
T |
A |
5: 114,550,491 (GRCm39) |
D839E |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,113,698 (GRCm39) |
D639G |
probably benign |
Het |
| Veph1 |
A |
T |
3: 66,065,648 (GRCm39) |
M473K |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,399,017 (GRCm39) |
N445K |
probably damaging |
Het |
| Vps37d |
T |
C |
5: 135,105,393 (GRCm39) |
M77V |
probably null |
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 |
|
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 |
|
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'- TTGCACAGGCCAGTTGAAAAC -3'
(R):5'- CAAGTGTTAGAATGCCAGAGTACG -3'
Sequencing Primer
(F):5'- GGCCAGTTGAAAACTCATTACAG -3'
(R):5'- ATCCTTATAGGCACTCCTGGAGATG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation