Incidental Mutation 'R7723:Slco1a1'
| ID |
595338 |
| 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 |
045779-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R7723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141853008-141892688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141854795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 619
(I619F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042119]
[ENSMUST00000168119]
|
| AlphaFold |
Q9QXZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042119
AA Change: I619F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: I619F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
C |
T |
1: 146,577,409 (GRCm39) |
T148I |
probably damaging |
Het |
| C1qa |
A |
T |
4: 136,623,744 (GRCm39) |
C153* |
probably null |
Het |
| Camkk1 |
G |
T |
11: 72,928,058 (GRCm39) |
R363L |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,946,798 (GRCm39) |
|
probably null |
Het |
| Cenpu |
T |
C |
8: 47,029,349 (GRCm39) |
S351P |
probably damaging |
Het |
| Chd9 |
C |
T |
8: 91,741,837 (GRCm39) |
L1609F |
unknown |
Het |
| Cnr1 |
T |
A |
4: 33,944,416 (GRCm39) |
I268N |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,016,154 (GRCm39) |
I4F |
probably benign |
Het |
| Dph6 |
A |
G |
2: 114,475,236 (GRCm39) |
V93A |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,499,786 (GRCm39) |
M785L |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,223,954 (GRCm39) |
C598* |
probably null |
Het |
| Fer |
T |
C |
17: 64,203,273 (GRCm39) |
S68P |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,279,158 (GRCm39) |
T22I |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,945,415 (GRCm39) |
D278G |
possibly damaging |
Het |
| Kdm1a |
C |
T |
4: 136,285,060 (GRCm39) |
V520I |
probably benign |
Het |
| Lrrc4c |
G |
T |
2: 97,460,999 (GRCm39) |
V542L |
possibly damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,427 (GRCm39) |
T247A |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,717 (GRCm39) |
S4929G |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,822,324 (GRCm39) |
H428Q |
possibly damaging |
Het |
| Mink1 |
C |
G |
11: 70,503,736 (GRCm39) |
Q1183E |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,687,141 (GRCm39) |
P82L |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,320,784 (GRCm39) |
T102A |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,486,375 (GRCm39) |
I230T |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,965,347 (GRCm39) |
T1644S |
possibly damaging |
Het |
| Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
| Or10d5j |
A |
T |
9: 39,867,920 (GRCm39) |
Y104N |
possibly damaging |
Het |
| Or13p10 |
A |
G |
4: 118,522,914 (GRCm39) |
S67G |
probably benign |
Het |
| Or2at4 |
A |
G |
7: 99,384,884 (GRCm39) |
Y178C |
possibly damaging |
Het |
| Or2l13b |
A |
T |
16: 19,349,358 (GRCm39) |
L104* |
probably null |
Het |
| Or5d44 |
A |
C |
2: 88,141,819 (GRCm39) |
V107G |
possibly damaging |
Het |
| Palld |
C |
T |
8: 62,164,492 (GRCm39) |
V400I |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,258 (GRCm39) |
V261A |
probably damaging |
Het |
| Pcdhb3 |
C |
A |
18: 37,435,565 (GRCm39) |
N510K |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,635,325 (GRCm39) |
Y79N |
probably damaging |
Het |
| Phc2 |
C |
T |
4: 128,616,882 (GRCm39) |
A385V |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,785,942 (GRCm39) |
T771A |
possibly damaging |
Het |
| Psmb6 |
T |
C |
11: 70,417,396 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ptcd1 |
T |
C |
5: 145,091,639 (GRCm39) |
T487A |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,298 (GRCm39) |
M595K |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,752 (GRCm39) |
V14D |
probably benign |
Het |
| Scn3b |
C |
A |
9: 40,199,693 (GRCm39) |
S203* |
probably null |
Het |
| Serinc1 |
G |
A |
10: 57,403,918 (GRCm39) |
P15L |
probably benign |
Het |
| Six2 |
A |
G |
17: 85,995,103 (GRCm39) |
I93T |
probably benign |
Het |
| Snx25 |
A |
C |
8: 46,491,516 (GRCm39) |
V858G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,441,572 (GRCm39) |
C1903Y |
probably damaging |
Het |
| Tas2r116 |
T |
A |
6: 132,832,867 (GRCm39) |
I156N |
probably benign |
Het |
| Tasp1 |
G |
T |
2: 139,827,051 (GRCm39) |
T189K |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,936,851 (GRCm39) |
M1399K |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,278,232 (GRCm39) |
C1092F |
probably damaging |
Het |
| Tmem150a |
G |
A |
6: 72,336,057 (GRCm39) |
V215I |
probably damaging |
Het |
| Tmem176b |
C |
T |
6: 48,812,869 (GRCm39) |
V109I |
probably benign |
Het |
| Trav8d-1 |
T |
A |
14: 53,016,321 (GRCm39) |
I69K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,638,419 (GRCm39) |
L13954I |
probably damaging |
Het |
| Veph1 |
C |
A |
3: 66,113,093 (GRCm39) |
C237F |
possibly damaging |
Het |
| Vmn1r121 |
G |
A |
7: 20,832,119 (GRCm39) |
T107I |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,458,567 (GRCm39) |
M300I |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,673 (GRCm39) |
D1089G |
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 |
|
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 |
|
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'- TGCACAGGCCAGTTGAAAAC -3'
(R):5'- GTGTTAGAATGCCAGAGTACGG -3'
Sequencing Primer
(F):5'- GGCCAGTTGAAAACTCATTACAG -3'
(R):5'- ATCCTTATAGGCACTCCTGGAGATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation