Incidental Mutation 'R6044:Slco1a1'
ID |
483712 |
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 |
044212-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.270)
|
Stock # |
R6044 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141853008-141892688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141885743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 94
(V94A)
|
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: V94A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000037022 Gene: ENSMUSG00000041698 AA Change: V94A
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: V94A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000132386 Gene: ENSMUSG00000041698 AA Change: V94A
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
Adamts20 |
A |
T |
15: 94,180,364 (GRCm39) |
Y1764N |
probably damaging |
Het |
Adamtsl1 |
A |
T |
4: 86,130,928 (GRCm39) |
D223V |
probably damaging |
Het |
Agbl1 |
T |
C |
7: 75,967,868 (GRCm39) |
V31A |
possibly damaging |
Het |
Alk |
T |
C |
17: 72,299,095 (GRCm39) |
H462R |
probably benign |
Het |
Amt |
A |
T |
9: 108,174,450 (GRCm39) |
T72S |
probably damaging |
Het |
Atp12a |
T |
A |
14: 56,613,612 (GRCm39) |
D461E |
probably damaging |
Het |
Bcan |
C |
A |
3: 87,902,950 (GRCm39) |
C276F |
probably damaging |
Het |
Crispld2 |
T |
C |
8: 120,737,410 (GRCm39) |
S54P |
possibly damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,933,987 (GRCm39) |
N478I |
probably damaging |
Het |
Des |
A |
T |
1: 75,340,113 (GRCm39) |
|
probably null |
Het |
Dnajc6 |
A |
T |
4: 101,473,774 (GRCm39) |
I427F |
probably benign |
Het |
Eml4 |
T |
G |
17: 83,753,379 (GRCm39) |
L281R |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,839,878 (GRCm39) |
Y2122C |
probably damaging |
Het |
Fndc11 |
T |
A |
2: 180,863,459 (GRCm39) |
L88Q |
probably damaging |
Het |
Foxo1 |
A |
G |
3: 52,253,258 (GRCm39) |
M474V |
probably benign |
Het |
Gap43 |
A |
T |
16: 42,112,550 (GRCm39) |
D70E |
probably benign |
Het |
Gemin4 |
T |
C |
11: 76,103,760 (GRCm39) |
M334V |
probably benign |
Het |
Gm973 |
T |
C |
1: 59,667,393 (GRCm39) |
L718P |
probably benign |
Het |
Gprin3 |
G |
T |
6: 59,330,657 (GRCm39) |
T550N |
possibly damaging |
Het |
Hddc3 |
T |
A |
7: 79,993,332 (GRCm39) |
V53E |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,298,449 (GRCm39) |
D12E |
probably null |
Het |
Klri2 |
T |
A |
6: 129,717,247 (GRCm39) |
E45D |
probably damaging |
Het |
Lct |
A |
G |
1: 128,235,717 (GRCm39) |
V430A |
possibly damaging |
Het |
Mcm8 |
T |
C |
2: 132,673,600 (GRCm39) |
|
probably null |
Het |
Mmp12 |
A |
G |
9: 7,350,050 (GRCm39) |
T184A |
possibly damaging |
Het |
Morc3 |
T |
C |
16: 93,663,330 (GRCm39) |
V511A |
probably benign |
Het |
Mta2 |
T |
C |
19: 8,925,695 (GRCm39) |
Y397H |
probably damaging |
Het |
Naa50 |
G |
A |
16: 43,979,890 (GRCm39) |
E93K |
possibly damaging |
Het |
Or14j2 |
G |
A |
17: 37,885,426 (GRCm39) |
T296M |
probably damaging |
Het |
Or2t26 |
T |
C |
11: 49,039,522 (GRCm39) |
V146A |
probably benign |
Het |
Or4a77 |
T |
A |
2: 89,487,516 (GRCm39) |
I90F |
probably damaging |
Het |
Or4c126 |
T |
C |
2: 89,823,761 (GRCm39) |
I8T |
possibly damaging |
Het |
Or4k40 |
T |
C |
2: 111,250,423 (GRCm39) |
N291S |
probably damaging |
Het |
Padi4 |
A |
G |
4: 140,475,438 (GRCm39) |
S576P |
possibly damaging |
Het |
Poglut2 |
A |
T |
1: 44,153,611 (GRCm39) |
L221* |
probably null |
Het |
Prss47 |
A |
T |
13: 65,197,120 (GRCm39) |
Y111* |
probably null |
Het |
Ptprm |
A |
G |
17: 67,000,857 (GRCm39) |
V1100A |
probably damaging |
Het |
Rab11fip3 |
G |
A |
17: 26,286,843 (GRCm39) |
P437S |
possibly damaging |
Het |
Rsph14 |
C |
T |
10: 74,867,102 (GRCm39) |
D15N |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,687,358 (GRCm39) |
E362G |
possibly damaging |
Het |
Sva |
A |
T |
6: 42,017,034 (GRCm39) |
Y47F |
probably benign |
Het |
Tatdn3 |
A |
G |
1: 190,788,558 (GRCm39) |
|
probably null |
Het |
Tlcd4 |
A |
T |
3: 121,001,018 (GRCm39) |
I205K |
probably damaging |
Het |
Tlcd5 |
A |
G |
9: 43,024,903 (GRCm39) |
S18P |
probably benign |
Het |
Tmem131 |
G |
A |
1: 36,920,422 (GRCm39) |
Q93* |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,656,665 (GRCm39) |
E1184G |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
Usp40 |
A |
T |
1: 87,917,872 (GRCm39) |
I325K |
probably benign |
Het |
Vmn2r27 |
T |
G |
6: 124,208,731 (GRCm39) |
I5L |
probably benign |
Het |
Wee1 |
C |
T |
7: 109,738,513 (GRCm39) |
T542I |
probably benign |
Het |
Wrn |
G |
A |
8: 33,726,457 (GRCm39) |
P1129S |
probably damaging |
Het |
Zfyve16 |
G |
A |
13: 92,659,174 (GRCm39) |
Q246* |
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 |
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 |
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'- AATGGACCTGAGGCCACAAG -3'
(R):5'- AAGGTGGTTGATAAGCAATGAACTC -3'
Sequencing Primer
(F):5'- GGTTCACAGATCATACTGGCAGATC -3'
(R):5'- CTAGAGTCCAAATGTTTTAGAGGCTG -3'
|
Posted On |
2017-07-14 |