Incidental Mutation 'R5650:Slco1a4'
ID |
441361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a4
|
Ensembl Gene |
ENSMUSG00000030237 |
Gene Name |
solute carrier organic anion transporter family, member 1a4 |
Synonyms |
Oatp2, Oatp1a4, Slc21a5 |
MMRRC Submission |
043296-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R5650 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141751166-141801925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 141755120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 561
(I561F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032364]
[ENSMUST00000165990]
|
AlphaFold |
Q9EP96 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032364
AA Change: I561F
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000032364 Gene: ENSMUSG00000030237 AA Change: I561F
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
19 |
598 |
3.2e-196 |
PFAM |
Pfam:MFS_1
|
22 |
421 |
9.2e-27 |
PFAM |
Pfam:Kazal_2
|
445 |
486 |
5e-10 |
PFAM |
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165990
AA Change: I561F
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130746 Gene: ENSMUSG00000030237 AA Change: I561F
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
21 |
597 |
3.2e-164 |
PFAM |
Pfam:MFS_1
|
22 |
421 |
7.2e-27 |
PFAM |
Pfam:Kazal_2
|
445 |
486 |
6.8e-11 |
PFAM |
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 96.0%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
C |
6: 85,597,253 (GRCm39) |
L693P |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,614,136 (GRCm39) |
T2524A |
probably damaging |
Het |
Cdr2 |
A |
G |
7: 120,557,559 (GRCm39) |
I322T |
probably damaging |
Het |
Cep76 |
A |
T |
18: 67,758,136 (GRCm39) |
C385S |
probably damaging |
Het |
Cercam |
C |
T |
2: 29,771,827 (GRCm39) |
S549F |
probably damaging |
Het |
Coro1b |
C |
T |
19: 4,200,610 (GRCm39) |
T209I |
possibly damaging |
Het |
Dlec1 |
G |
T |
9: 118,972,662 (GRCm39) |
E1462* |
probably null |
Het |
Dlgap5 |
C |
T |
14: 47,649,196 (GRCm39) |
G166D |
probably benign |
Het |
Ep400 |
C |
T |
5: 110,843,818 (GRCm39) |
|
probably null |
Het |
Fam3d |
A |
T |
14: 8,357,142 (GRCm38) |
V96E |
probably damaging |
Het |
Fgr |
T |
G |
4: 132,727,533 (GRCm39) |
V478G |
probably benign |
Het |
Fmo9 |
T |
A |
1: 166,491,015 (GRCm39) |
I437F |
probably damaging |
Het |
Gabrd |
A |
T |
4: 155,473,081 (GRCm39) |
V64E |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,456,051 (GRCm39) |
Y385C |
probably damaging |
Het |
H4c4 |
A |
T |
13: 23,765,778 (GRCm39) |
N65I |
possibly damaging |
Het |
Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
Helz |
T |
A |
11: 107,485,972 (GRCm39) |
M127K |
probably null |
Het |
Hsp90b1 |
G |
A |
10: 86,529,367 (GRCm39) |
A310V |
probably damaging |
Het |
Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
Kif7 |
C |
T |
7: 79,360,727 (GRCm39) |
R216H |
probably damaging |
Het |
Klhl33 |
A |
G |
14: 51,129,285 (GRCm39) |
I648T |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,912,031 (GRCm39) |
L1716* |
probably null |
Het |
Lgals9 |
T |
A |
11: 78,863,980 (GRCm39) |
N55I |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,136,110 (GRCm39) |
T606S |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,667,467 (GRCm39) |
|
probably null |
Het |
Mip |
A |
T |
10: 128,061,934 (GRCm39) |
I62F |
possibly damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Npepl1 |
T |
C |
2: 173,963,329 (GRCm39) |
F454L |
possibly damaging |
Het |
Or10h28 |
A |
T |
17: 33,487,858 (GRCm39) |
E53D |
probably benign |
Het |
Or1j21 |
T |
A |
2: 36,683,277 (GRCm39) |
S10T |
probably benign |
Het |
Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
Or8b1b |
A |
T |
9: 38,376,023 (GRCm39) |
K229* |
probably null |
Het |
Oxct1 |
T |
A |
15: 4,172,332 (GRCm39) |
V466D |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,144,792 (GRCm39) |
I2768F |
probably damaging |
Het |
Pitpnm1 |
C |
A |
19: 4,153,319 (GRCm39) |
D158E |
possibly damaging |
Het |
Plekho2 |
T |
C |
9: 65,464,018 (GRCm39) |
N277S |
probably benign |
Het |
Rab33b |
T |
C |
3: 51,400,837 (GRCm39) |
Y104H |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,604,331 (GRCm39) |
S473G |
probably benign |
Het |
Serpina1b |
T |
A |
12: 103,694,694 (GRCm39) |
|
probably null |
Het |
Slc25a17 |
A |
T |
15: 81,213,377 (GRCm39) |
|
probably null |
Het |
Slc43a2 |
T |
C |
11: 75,436,633 (GRCm39) |
C160R |
probably damaging |
Het |
Slc7a4 |
G |
T |
16: 17,393,548 (GRCm39) |
L84M |
possibly damaging |
Het |
Sowahc |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGAGGAGGA |
10: 59,059,313 (GRCm39) |
|
probably benign |
Het |
Specc1 |
T |
C |
11: 62,008,793 (GRCm39) |
I183T |
probably damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,569 (GRCm39) |
K362E |
probably benign |
Het |
Tcf12 |
A |
T |
9: 71,792,584 (GRCm39) |
|
probably null |
Het |
Tlr11 |
C |
T |
14: 50,598,658 (GRCm39) |
P215S |
probably benign |
Het |
Tmem41b |
A |
G |
7: 109,574,072 (GRCm39) |
S198P |
probably damaging |
Het |
Tubgcp3 |
A |
G |
8: 12,698,670 (GRCm39) |
F427S |
probably damaging |
Het |
Wdr81 |
T |
A |
11: 75,335,574 (GRCm39) |
S1752C |
probably damaging |
Het |
Zbtb7a |
A |
G |
10: 80,980,883 (GRCm39) |
Y359C |
probably damaging |
Het |
Zfp37 |
T |
C |
4: 62,110,002 (GRCm39) |
Y354C |
probably damaging |
Het |
Zmpste24 |
T |
A |
4: 120,940,074 (GRCm39) |
I191F |
possibly damaging |
Het |
|
Other mutations in Slco1a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00976:Slco1a4
|
APN |
6 |
141,752,908 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01573:Slco1a4
|
APN |
6 |
141,758,577 (GRCm39) |
splice site |
probably benign |
|
IGL01735:Slco1a4
|
APN |
6 |
141,763,477 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03115:Slco1a4
|
APN |
6 |
141,763,585 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03115:Slco1a4
|
APN |
6 |
141,765,329 (GRCm39) |
missense |
probably benign |
0.05 |
R0062:Slco1a4
|
UTSW |
6 |
141,765,205 (GRCm39) |
nonsense |
probably null |
|
R0062:Slco1a4
|
UTSW |
6 |
141,765,205 (GRCm39) |
nonsense |
probably null |
|
R0305:Slco1a4
|
UTSW |
6 |
141,763,479 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0511:Slco1a4
|
UTSW |
6 |
141,776,586 (GRCm39) |
splice site |
probably benign |
|
R0660:Slco1a4
|
UTSW |
6 |
141,758,467 (GRCm39) |
missense |
probably benign |
0.05 |
R0664:Slco1a4
|
UTSW |
6 |
141,758,467 (GRCm39) |
missense |
probably benign |
0.05 |
R1589:Slco1a4
|
UTSW |
6 |
141,791,173 (GRCm39) |
missense |
probably benign |
|
R1606:Slco1a4
|
UTSW |
6 |
141,785,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Slco1a4
|
UTSW |
6 |
141,785,303 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1742:Slco1a4
|
UTSW |
6 |
141,770,771 (GRCm39) |
missense |
probably benign |
0.07 |
R1763:Slco1a4
|
UTSW |
6 |
141,758,457 (GRCm39) |
missense |
probably benign |
0.26 |
R1893:Slco1a4
|
UTSW |
6 |
141,780,342 (GRCm39) |
splice site |
probably null |
|
R1908:Slco1a4
|
UTSW |
6 |
141,761,173 (GRCm39) |
critical splice donor site |
probably null |
|
R1944:Slco1a4
|
UTSW |
6 |
141,785,276 (GRCm39) |
missense |
probably benign |
0.00 |
R2144:Slco1a4
|
UTSW |
6 |
141,755,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R2276:Slco1a4
|
UTSW |
6 |
141,761,308 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2340:Slco1a4
|
UTSW |
6 |
141,787,103 (GRCm39) |
missense |
probably benign |
0.00 |
R3017:Slco1a4
|
UTSW |
6 |
141,758,396 (GRCm39) |
splice site |
probably null |
|
R3769:Slco1a4
|
UTSW |
6 |
141,785,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R4577:Slco1a4
|
UTSW |
6 |
141,765,266 (GRCm39) |
missense |
probably damaging |
0.97 |
R4650:Slco1a4
|
UTSW |
6 |
141,758,424 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4801:Slco1a4
|
UTSW |
6 |
141,791,223 (GRCm39) |
start gained |
probably benign |
|
R4802:Slco1a4
|
UTSW |
6 |
141,791,223 (GRCm39) |
start gained |
probably benign |
|
R4896:Slco1a4
|
UTSW |
6 |
141,761,231 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5126:Slco1a4
|
UTSW |
6 |
141,761,308 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5183:Slco1a4
|
UTSW |
6 |
141,785,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Slco1a4
|
UTSW |
6 |
141,776,433 (GRCm39) |
missense |
probably damaging |
0.98 |
R5645:Slco1a4
|
UTSW |
6 |
141,780,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5832:Slco1a4
|
UTSW |
6 |
141,765,270 (GRCm39) |
missense |
probably benign |
0.00 |
R6180:Slco1a4
|
UTSW |
6 |
141,763,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6415:Slco1a4
|
UTSW |
6 |
141,780,415 (GRCm39) |
nonsense |
probably null |
|
R6992:Slco1a4
|
UTSW |
6 |
141,765,330 (GRCm39) |
missense |
probably benign |
0.05 |
R7024:Slco1a4
|
UTSW |
6 |
141,780,434 (GRCm39) |
missense |
probably benign |
0.00 |
R7696:Slco1a4
|
UTSW |
6 |
141,756,237 (GRCm39) |
nonsense |
probably null |
|
R7751:Slco1a4
|
UTSW |
6 |
141,780,413 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8743:Slco1a4
|
UTSW |
6 |
141,765,255 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9173:Slco1a4
|
UTSW |
6 |
141,761,299 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACCATCCATCATCCATGC -3'
(R):5'- GGTTATGTTAGGTAGACACAGAAAACC -3'
Sequencing Primer
(F):5'- TCCATGCCCATTCTGAAAAATC -3'
(R):5'- GACACTCTTCTCATGTTGTACATAG -3'
|
Posted On |
2016-11-08 |