Incidental Mutation 'R7696:Slco1a4'
ID |
593657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a4
|
Ensembl Gene |
ENSMUSG00000030237 |
Gene Name |
solute carrier organic anion transporter family, member 1a4 |
Synonyms |
Oatp2, Oatp1a4, Slc21a5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R7696 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141751166-141801925 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 141756237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 538
(C538*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032364]
[ENSMUST00000165990]
|
AlphaFold |
Q9EP96 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032364
AA Change: C538*
|
SMART Domains |
Protein: ENSMUSP00000032364 Gene: ENSMUSG00000030237 AA Change: C538*
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 |
probably null
Transcript: ENSMUST00000165990
AA Change: C538*
|
SMART Domains |
Protein: ENSMUSP00000130746 Gene: ENSMUSG00000030237 AA Change: C538*
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: 100.0%
- 3x: 99.9%
- 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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,258,224 (GRCm39) |
R512C |
probably damaging |
Het |
Afap1l2 |
C |
A |
19: 56,902,918 (GRCm39) |
V754L |
probably damaging |
Het |
Atp5f1a |
T |
A |
18: 77,868,686 (GRCm39) |
I393N |
probably damaging |
Het |
Bbs1 |
C |
T |
19: 4,941,017 (GRCm39) |
|
probably null |
Het |
Bglap2 |
A |
T |
3: 88,285,923 (GRCm39) |
L12Q |
unknown |
Het |
Bsn |
C |
T |
9: 107,991,700 (GRCm39) |
V1351I |
probably damaging |
Het |
Cbx1 |
T |
C |
11: 96,697,468 (GRCm39) |
V147A |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,953,434 (GRCm39) |
S484T |
probably damaging |
Het |
Col18a1 |
A |
T |
10: 76,921,106 (GRCm39) |
I298K |
unknown |
Het |
Cyp27a1 |
A |
T |
1: 74,771,198 (GRCm39) |
I128L |
probably benign |
Het |
Dhdds |
C |
T |
4: 133,724,225 (GRCm39) |
A30T |
probably damaging |
Het |
Dnajc12 |
A |
G |
10: 63,242,911 (GRCm39) |
N143S |
probably benign |
Het |
Eno3 |
T |
G |
11: 70,552,809 (GRCm39) |
N363K |
probably benign |
Het |
Galnt10 |
T |
A |
11: 57,660,364 (GRCm39) |
D267E |
probably damaging |
Het |
Galr2 |
C |
T |
11: 116,173,993 (GRCm39) |
R208C |
probably damaging |
Het |
Hif3a |
G |
A |
7: 16,788,712 (GRCm39) |
R82C |
unknown |
Het |
Hspg2 |
T |
A |
4: 137,239,277 (GRCm39) |
F401L |
possibly damaging |
Het |
Iars1 |
G |
T |
13: 49,860,214 (GRCm39) |
W455L |
probably damaging |
Het |
Irf1 |
C |
T |
11: 53,667,162 (GRCm39) |
H294Y |
probably benign |
Het |
Itgal |
T |
C |
7: 126,929,356 (GRCm39) |
L1091P |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,389,263 (GRCm39) |
D2054A |
probably benign |
Het |
Map3k2 |
T |
A |
18: 32,353,647 (GRCm39) |
H472Q |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,840,158 (GRCm39) |
D2545G |
probably damaging |
Het |
Nle1 |
G |
T |
11: 82,795,792 (GRCm39) |
Y218* |
probably null |
Het |
Pdlim5 |
A |
T |
3: 141,983,623 (GRCm39) |
S377T |
probably benign |
Het |
Plch1 |
A |
T |
3: 63,662,726 (GRCm39) |
M259K |
probably benign |
Het |
Pou6f1 |
A |
G |
15: 100,481,979 (GRCm39) |
V268A |
probably benign |
Het |
Prn |
C |
A |
2: 131,788,365 (GRCm39) |
L7I |
unknown |
Het |
Prpf6 |
C |
T |
2: 181,250,035 (GRCm39) |
A65V |
possibly damaging |
Het |
Rarres1 |
A |
T |
3: 67,398,345 (GRCm39) |
F138L |
probably benign |
Het |
Ros1 |
C |
T |
10: 52,018,379 (GRCm39) |
V781M |
probably damaging |
Het |
Sec16a |
C |
A |
2: 26,305,645 (GRCm39) |
|
probably null |
Het |
Slc44a4 |
G |
A |
17: 35,147,676 (GRCm39) |
G606D |
probably damaging |
Het |
Slco1c1 |
A |
G |
6: 141,513,336 (GRCm39) |
Y537C |
probably benign |
Het |
Speg |
T |
A |
1: 75,405,805 (GRCm39) |
L3003Q |
probably damaging |
Het |
Ssr3 |
A |
G |
3: 65,299,886 (GRCm39) |
S25P |
probably benign |
Het |
Stard13 |
C |
A |
5: 150,984,267 (GRCm39) |
R623L |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,181,605 (GRCm39) |
I376T |
probably damaging |
Het |
Tigd4 |
C |
A |
3: 84,502,224 (GRCm39) |
F380L |
possibly damaging |
Het |
Tmc4 |
T |
C |
7: 3,672,574 (GRCm39) |
K489E |
probably damaging |
Het |
Tmem114 |
C |
T |
16: 8,242,353 (GRCm39) |
R55H |
probably benign |
Het |
Tmem168 |
A |
G |
6: 13,602,937 (GRCm39) |
I143T |
probably benign |
Het |
Tmem87b |
C |
T |
2: 128,683,237 (GRCm39) |
T397I |
probably damaging |
Het |
Tom1l1 |
C |
A |
11: 90,563,741 (GRCm39) |
R173L |
probably benign |
Het |
Trim10 |
G |
A |
17: 37,182,644 (GRCm39) |
R170K |
probably damaging |
Het |
Usp6nl |
T |
A |
2: 6,429,134 (GRCm39) |
Y222N |
probably damaging |
Het |
Vmn2r26 |
A |
T |
6: 124,038,494 (GRCm39) |
I690F |
possibly damaging |
Het |
Zfp1006 |
A |
G |
8: 129,945,794 (GRCm39) |
Y344H |
probably benign |
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 |
R5650:Slco1a4
|
UTSW |
6 |
141,755,120 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
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'- GCACACCTATCTTAATGATGCTACC -3'
(R):5'- CAGCTTTCAGAAGTCCTTACTCT -3'
Sequencing Primer
(F):5'- GGCTGACCCAAAACTGTTCTCATG -3'
(R):5'- AGAAGTCCTTACTCTCCTTTTTCTG -3'
|
Posted On |
2019-11-12 |