Incidental Mutation 'R5832:Slco1a4'
| ID |
449351 |
| 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 |
044054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5832 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141751166-141801925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141765270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 324
(I324T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032364]
[ENSMUST00000165990]
|
| AlphaFold |
Q9EP96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032364
AA Change: I324T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: I324T
| 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 benign
Transcript: ENSMUST00000165990
AA Change: I324T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: I324T
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,251,421 (GRCm39) |
S6232F |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,144,106 (GRCm39) |
E129G |
probably damaging |
Het |
| Anxa13 |
C |
A |
15: 58,205,389 (GRCm39) |
|
noncoding transcript |
Het |
| Arfgef3 |
C |
T |
10: 18,506,168 (GRCm39) |
G878D |
probably damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,386,634 (GRCm39) |
D331G |
probably damaging |
Het |
| Crisp1 |
A |
G |
17: 40,612,208 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,842,447 (GRCm39) |
N217S |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,470,460 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,223,752 (GRCm39) |
W1033R |
probably damaging |
Het |
| Galr2 |
T |
A |
11: 116,172,457 (GRCm39) |
L49Q |
probably damaging |
Het |
| Gstm5 |
T |
C |
3: 107,804,853 (GRCm39) |
V115A |
probably benign |
Het |
| Gtpbp2 |
C |
T |
17: 46,478,788 (GRCm39) |
T535I |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,128,144 (GRCm39) |
E326G |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,533 (GRCm39) |
V388A |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kitl |
C |
A |
10: 99,915,882 (GRCm39) |
P137H |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,520,070 (GRCm39) |
Y38N |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,121,649 (GRCm39) |
N5I |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,350 (GRCm39) |
C191S |
probably benign |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,949,520 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
T |
7: 49,197,817 (GRCm39) |
|
probably null |
Het |
| Patz1 |
C |
T |
11: 3,256,277 (GRCm39) |
P521L |
probably benign |
Het |
| Pramel14 |
A |
G |
4: 143,718,532 (GRCm39) |
S304P |
probably damaging |
Het |
| Prkcd |
T |
C |
14: 30,327,778 (GRCm39) |
T103A |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,419,859 (GRCm39) |
|
probably null |
Het |
| Rcbtb2 |
C |
A |
14: 73,404,262 (GRCm39) |
Q85K |
possibly damaging |
Het |
| Rdh16f1 |
T |
A |
10: 127,624,618 (GRCm39) |
V152E |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,498 (GRCm39) |
I470V |
probably benign |
Het |
| Sarnp |
T |
C |
10: 128,684,181 (GRCm39) |
|
probably null |
Het |
| Slc39a6 |
C |
A |
18: 24,734,669 (GRCm39) |
V7L |
possibly damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,849,380 (GRCm39) |
V916E |
probably damaging |
Het |
| Srgap1 |
T |
G |
10: 121,676,819 (GRCm39) |
T392P |
probably damaging |
Het |
| Tbc1d20 |
A |
T |
2: 152,153,282 (GRCm39) |
M271L |
possibly damaging |
Het |
| Tbc1d22b |
T |
C |
17: 29,789,621 (GRCm39) |
I161T |
possibly damaging |
Het |
| Tcof1 |
G |
T |
18: 60,952,611 (GRCm39) |
N918K |
unknown |
Het |
| Tnr |
A |
G |
1: 159,713,692 (GRCm39) |
T707A |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,054,409 (GRCm39) |
F1267S |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,764,183 (GRCm39) |
H263R |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,725,965 (GRCm39) |
V187D |
possibly damaging |
Het |
| Ube2f |
T |
G |
1: 91,213,046 (GRCm39) |
V176G |
possibly damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,761,318 (GRCm39) |
A680T |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,670 (GRCm39) |
C665* |
probably null |
Het |
| Zfp954 |
A |
G |
7: 7,118,389 (GRCm39) |
V385A |
probably 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 |
|
R5650:Slco1a4
|
UTSW |
6 |
141,755,120 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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'- TCATGCACTTGAGGATAGATACTG -3'
(R):5'- CTTCCAGATGTGACTTAAAGGATG -3'
Sequencing Primer
(F):5'- GTCATGGAGTCTCTTCACAGCAG -3'
(R):5'- TAGGGATTAAGATTGATCAAATGCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation