Incidental Mutation 'R7328:Slco1a1'
| ID |
569049 |
| 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 |
045421-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R7328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141853008-141892688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141882134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 145
(D145V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042119]
[ENSMUST00000168119]
|
| AlphaFold |
Q9QXZ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042119
AA Change: D145V
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: D145V
| 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 |
possibly damaging
Transcript: ENSMUST00000168119
AA Change: D145V
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: D145V
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| 4933427D14Rik |
C |
G |
11: 72,060,606 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,241,545 (GRCm39) |
V1136E |
probably benign |
Het |
| Arl4c |
C |
A |
1: 88,629,239 (GRCm39) |
E50* |
probably null |
Het |
| Atxn7l1 |
T |
C |
12: 33,198,502 (GRCm39) |
|
probably null |
Het |
| Ctdsp1 |
A |
T |
1: 74,433,199 (GRCm39) |
I115F |
probably damaging |
Het |
| Cyp2j5 |
A |
G |
4: 96,551,450 (GRCm39) |
V91A |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,446,235 (GRCm39) |
K1469* |
probably null |
Het |
| Elf2 |
A |
G |
3: 51,174,198 (GRCm39) |
C110R |
probably damaging |
Het |
| Ephb1 |
A |
G |
9: 102,072,438 (GRCm39) |
Y114H |
probably damaging |
Het |
| Ephb2 |
C |
T |
4: 136,386,245 (GRCm39) |
|
probably null |
Het |
| Fbxw20 |
C |
A |
9: 109,061,383 (GRCm39) |
C122F |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,883,788 (GRCm38) |
I338T |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,894,660 (GRCm38) |
Y819* |
probably null |
Het |
| Foxo3 |
A |
T |
10: 42,073,258 (GRCm39) |
S420T |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,113,248 (GRCm39) |
V10A |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,514,617 (GRCm39) |
V3585E |
possibly damaging |
Het |
| Hsdl1 |
T |
C |
8: 120,292,830 (GRCm39) |
T202A |
probably benign |
Het |
| Htr1d |
G |
A |
4: 136,170,614 (GRCm39) |
S281N |
probably benign |
Het |
| Igkv14-111 |
T |
A |
6: 68,233,709 (GRCm39) |
I70N |
probably damaging |
Het |
| Igkv8-34 |
A |
G |
6: 70,021,328 (GRCm39) |
S45P |
probably damaging |
Het |
| Inha |
T |
C |
1: 75,486,760 (GRCm39) |
Y352H |
probably damaging |
Het |
| Lats1 |
A |
T |
10: 7,581,311 (GRCm39) |
M699L |
possibly damaging |
Het |
| Marchf9 |
T |
C |
10: 126,894,165 (GRCm39) |
E146G |
probably damaging |
Het |
| Mcm8 |
T |
C |
2: 132,674,777 (GRCm39) |
V443A |
probably benign |
Het |
| Melk |
A |
T |
4: 44,332,931 (GRCm39) |
S296C |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,698,737 (GRCm39) |
S4P |
|
Het |
| Myof |
T |
C |
19: 37,904,847 (GRCm39) |
Y1646C |
probably damaging |
Het |
| Noc4l |
C |
A |
5: 110,796,789 (GRCm39) |
A498S |
possibly damaging |
Het |
| Nrxn3 |
T |
C |
12: 88,762,345 (GRCm39) |
S131P |
probably benign |
Het |
| Or5ae2 |
T |
C |
7: 84,506,507 (GRCm39) |
I312T |
probably benign |
Het |
| Or5ak23 |
A |
G |
2: 85,244,668 (GRCm39) |
I185T |
probably benign |
Het |
| Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
| Or8g23 |
T |
C |
9: 38,971,857 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Phldb2 |
T |
A |
16: 45,578,572 (GRCm39) |
|
probably null |
Het |
| Polr2b |
C |
T |
5: 77,463,846 (GRCm39) |
P81L |
probably damaging |
Het |
| Rbfa |
C |
A |
18: 80,236,454 (GRCm39) |
G215C |
probably benign |
Het |
| Rdh19 |
T |
C |
10: 127,692,896 (GRCm39) |
S188P |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,931 (GRCm39) |
M1596V |
probably benign |
Het |
| Sele |
A |
T |
1: 163,876,844 (GRCm39) |
Y40F |
probably benign |
Het |
| Setd1b |
T |
A |
5: 123,290,442 (GRCm39) |
V803D |
unknown |
Het |
| Siglecf |
C |
T |
7: 43,001,691 (GRCm39) |
T167I |
possibly damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,733,987 (GRCm39) |
E234G |
probably benign |
Het |
| Son |
G |
A |
16: 91,455,278 (GRCm39) |
V1342I |
probably benign |
Het |
| Sybu |
G |
A |
15: 44,651,190 (GRCm39) |
P38L |
not run |
Het |
| Taf15 |
C |
T |
11: 83,375,658 (GRCm39) |
T41M |
possibly damaging |
Het |
| Tm4sf4 |
A |
T |
3: 57,333,925 (GRCm39) |
N71Y |
probably benign |
Het |
| Tm7sf2 |
C |
T |
19: 6,114,156 (GRCm39) |
V226I |
possibly damaging |
Het |
| Trim66 |
C |
A |
7: 109,056,958 (GRCm39) |
Q1066H |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,291,685 (GRCm39) |
V51A |
probably benign |
Het |
| Vav3 |
A |
T |
3: 109,410,744 (GRCm39) |
I192L |
probably benign |
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 |
|
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'- TGTGAGACTAATAGTGCTGGAGTAG -3'
(R):5'- AGAAATCACTATTCTGCAGATGCC -3'
Sequencing Primer
(F):5'- TTAAGTATTCCCAAACACAAGAGGG -3'
(R):5'- GCAGATGCCCTTCTTGCAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation