Incidental Mutation 'R6787:Slco1a1'
| ID |
532431 |
| 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 |
044901-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R6787 (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 C
at 141882213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 119
(I119V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042119]
[ENSMUST00000168119]
|
| AlphaFold |
Q9QXZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042119
AA Change: I119V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: I119V
| 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
AA Change: I119V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: I119V
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
96% (51/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,126,768 (GRCm39) |
T32I |
probably benign |
Het |
| 4930486L24Rik |
T |
A |
13: 61,000,922 (GRCm39) |
I205L |
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,508 (GRCm39) |
V963M |
probably damaging |
Het |
| Adra1b |
C |
A |
11: 43,726,242 (GRCm39) |
R225L |
probably damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,021 (GRCm39) |
V73A |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| BC035947 |
G |
T |
1: 78,475,527 (GRCm39) |
P335Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,104,553 (GRCm39) |
F2189L |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,342,924 (GRCm39) |
I635V |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,046,374 (GRCm39) |
D42E |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,274,607 (GRCm39) |
Y878* |
probably null |
Het |
| Clpb |
A |
T |
7: 101,312,866 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,022,089 (GRCm39) |
I569V |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,752,701 (GRCm39) |
D297V |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,894,976 (GRCm39) |
T165A |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,093,402 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,561,744 (GRCm39) |
N921S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,260,211 (GRCm39) |
V1039E |
probably benign |
Het |
| Gmip |
A |
G |
8: 70,266,436 (GRCm39) |
E212G |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,379,758 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,766 (GRCm39) |
N796K |
probably damaging |
Het |
| Hadhb |
T |
C |
5: 30,360,247 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,119,609 (GRCm39) |
S472T |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,125,670 (GRCm39) |
E135K |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,480,737 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,091,020 (GRCm39) |
I1620T |
unknown |
Het |
| Lins1 |
A |
G |
7: 66,363,902 (GRCm39) |
E594G |
probably benign |
Het |
| Lrrc38 |
T |
A |
4: 143,096,364 (GRCm39) |
M225K |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,399,090 (GRCm39) |
I975T |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,874 (GRCm39) |
F38S |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,458,714 (GRCm39) |
G150R |
probably damaging |
Het |
| Oas2 |
T |
G |
5: 120,876,863 (GRCm39) |
I391L |
possibly damaging |
Het |
| Or4a70 |
T |
A |
2: 89,324,378 (GRCm39) |
R93* |
probably null |
Het |
| Or5p72 |
T |
C |
7: 108,021,889 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,391 (GRCm39) |
D173V |
possibly damaging |
Het |
| Or7e178 |
T |
C |
9: 20,247,221 (GRCm39) |
D14G |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,342,063 (GRCm39) |
T182A |
probably damaging |
Het |
| Pdlim7 |
T |
C |
13: 55,656,810 (GRCm39) |
D48G |
probably damaging |
Het |
| Polr3b |
A |
C |
10: 84,464,489 (GRCm39) |
|
probably null |
Het |
| Psmd5 |
C |
T |
2: 34,747,649 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sdhb |
T |
C |
4: 140,703,501 (GRCm39) |
Y208H |
probably damaging |
Het |
| Serinc5 |
G |
A |
13: 92,842,740 (GRCm39) |
V397I |
possibly damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,834 (GRCm39) |
M73K |
possibly damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,770,487 (GRCm39) |
|
probably null |
Het |
| Srd5a1 |
T |
C |
13: 69,759,418 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,754,948 (GRCm39) |
I1111V |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,779 (GRCm39) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,992,591 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
T |
17: 34,929,710 (GRCm39) |
T2815S |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,467,623 (GRCm39) |
I363N |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,499 (GRCm39) |
N134K |
possibly 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 |
|
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'- ATCTCCTGTCCCTGAAAATGG -3'
(R):5'- GGCAATTTATAATCTCCAGGAAGGG -3'
Sequencing Primer
(F):5'- CCTTTGTCTTACGTGTCTAATAAACC -3'
(R):5'- CTGAATCAGCCAATAGGATATCATC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation