Incidental Mutation 'IGL01347:Slco1a7'
| ID |
75088 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a7
|
| Ensembl Gene |
ENSMUSG00000084927 |
| Gene Name |
solute carrier organic anion transporter family, member 1a7 |
| Synonyms |
Gm5724 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL01347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141653844-141719536 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 141700192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 113
(Y113*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148411]
|
| AlphaFold |
L7N264 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000148411
AA Change: Y113*
|
| SMART Domains |
Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: Y113*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
405 |
3.4e-26 |
PFAM |
|
KAZAL
|
438 |
484 |
1.71e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
A |
T |
6: 48,909,477 (GRCm39) |
Y574F |
probably benign |
Het |
| Apc |
C |
T |
18: 34,450,723 (GRCm39) |
P2506S |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,206,711 (GRCm39) |
K610N |
possibly damaging |
Het |
| Bri3bp |
T |
G |
5: 125,531,581 (GRCm39) |
C176G |
probably damaging |
Het |
| Carnmt1 |
A |
G |
19: 18,668,818 (GRCm39) |
I248V |
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,822,454 (GRCm39) |
L1475P |
probably damaging |
Het |
| Cfap100 |
C |
T |
6: 90,383,103 (GRCm39) |
V511M |
possibly damaging |
Het |
| Chchd3 |
T |
C |
6: 32,780,838 (GRCm39) |
N78S |
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,537,115 (GRCm39) |
E480K |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,500,978 (GRCm39) |
I385F |
possibly damaging |
Het |
| D930048N14Rik |
T |
A |
11: 51,545,615 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,419,340 (GRCm39) |
D53E |
probably benign |
Het |
| Dlx3 |
T |
A |
11: 95,011,359 (GRCm39) |
L71H |
probably damaging |
Het |
| Egln2 |
A |
C |
7: 26,859,717 (GRCm39) |
V332G |
probably null |
Het |
| Entpd2 |
A |
G |
2: 25,288,746 (GRCm39) |
Q250R |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,510,593 (GRCm39) |
D132G |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,543,114 (GRCm39) |
D637G |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,596,708 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
G |
A |
5: 105,479,194 (GRCm39) |
|
probably benign |
Het |
| Gm17175 |
A |
T |
14: 51,808,307 (GRCm39) |
C162S |
probably damaging |
Het |
| Gm5499 |
C |
T |
17: 87,386,339 (GRCm39) |
|
noncoding transcript |
Het |
| Gps1 |
T |
C |
11: 120,679,086 (GRCm39) |
V378A |
probably benign |
Het |
| Grik1 |
C |
T |
16: 87,754,481 (GRCm39) |
R368Q |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,431,318 (GRCm39) |
E214G |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,900,064 (GRCm39) |
Y84H |
probably damaging |
Het |
| Jdp2 |
T |
C |
12: 85,655,020 (GRCm39) |
S28P |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,698,240 (GRCm39) |
F577S |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,904,130 (GRCm39) |
G294D |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,243,041 (GRCm39) |
D374E |
probably damaging |
Het |
| Lman1 |
T |
C |
18: 66,124,681 (GRCm39) |
I353V |
probably damaging |
Het |
| Lmna |
T |
C |
3: 88,392,270 (GRCm39) |
H374R |
probably benign |
Het |
| Lrrc57 |
A |
G |
2: 120,439,286 (GRCm39) |
S31P |
probably benign |
Het |
| Lum |
T |
A |
10: 97,404,547 (GRCm39) |
N147K |
probably damaging |
Het |
| Or6n2 |
T |
C |
1: 173,897,632 (GRCm39) |
I256T |
probably benign |
Het |
| Or7a41 |
A |
G |
10: 78,871,445 (GRCm39) |
T272A |
probably benign |
Het |
| P4ha3 |
C |
A |
7: 99,955,140 (GRCm39) |
L332I |
probably damaging |
Het |
| Pelp1 |
A |
G |
11: 70,286,505 (GRCm39) |
I541T |
probably damaging |
Het |
| Pja2 |
A |
C |
17: 64,620,023 (GRCm39) |
S2A |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,268 (GRCm39) |
L325P |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 74,149,744 (GRCm39) |
D28G |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,198,111 (GRCm39) |
Y470H |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,434,645 (GRCm39) |
N430S |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,538 (GRCm39) |
I62L |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,391,507 (GRCm39) |
K62* |
probably null |
Het |
| Sec23ip |
T |
C |
7: 128,364,129 (GRCm39) |
V469A |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,991,544 (GRCm39) |
T663A |
unknown |
Het |
| Stab2 |
G |
T |
10: 86,737,567 (GRCm39) |
|
probably null |
Het |
| Tmcc3 |
T |
C |
10: 94,418,147 (GRCm39) |
L305P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,014,260 (GRCm39) |
N458S |
probably damaging |
Het |
| Tpr |
G |
A |
1: 150,302,738 (GRCm39) |
R1412Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,703,058 (GRCm39) |
F173I |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,104,380 (GRCm39) |
V898I |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,547,899 (GRCm39) |
L145F |
probably benign |
Het |
| Wnt10b |
A |
G |
15: 98,674,826 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,298,957 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slco1a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Slco1a7
|
APN |
6 |
141,700,155 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01539:Slco1a7
|
APN |
6 |
141,673,333 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01613:Slco1a7
|
APN |
6 |
141,658,940 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02060:Slco1a7
|
APN |
6 |
141,700,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02063:Slco1a7
|
APN |
6 |
141,684,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02126:Slco1a7
|
APN |
6 |
141,684,739 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02214:Slco1a7
|
APN |
6 |
141,668,911 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02630:Slco1a7
|
APN |
6 |
141,668,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0966:Slco1a7
|
UTSW |
6 |
141,673,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1082:Slco1a7
|
UTSW |
6 |
141,657,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Slco1a7
|
UTSW |
6 |
141,711,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1571:Slco1a7
|
UTSW |
6 |
141,700,135 (GRCm39) |
nonsense |
probably null |
|
|
R1765:Slco1a7
|
UTSW |
6 |
141,700,084 (GRCm39) |
splice site |
probably benign |
|
|
R2055:Slco1a7
|
UTSW |
6 |
141,671,181 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2174:Slco1a7
|
UTSW |
6 |
141,673,319 (GRCm39) |
nonsense |
probably null |
|
|
R2495:Slco1a7
|
UTSW |
6 |
141,711,503 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2857:Slco1a7
|
UTSW |
6 |
141,690,264 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3551:Slco1a7
|
UTSW |
6 |
141,654,322 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3824:Slco1a7
|
UTSW |
6 |
141,700,100 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3912:Slco1a7
|
UTSW |
6 |
141,673,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3942:Slco1a7
|
UTSW |
6 |
141,673,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4161:Slco1a7
|
UTSW |
6 |
141,654,322 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4168:Slco1a7
|
UTSW |
6 |
141,684,673 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4395:Slco1a7
|
UTSW |
6 |
141,657,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4720:Slco1a7
|
UTSW |
6 |
141,668,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Slco1a7
|
UTSW |
6 |
141,668,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4733:Slco1a7
|
UTSW |
6 |
141,668,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4794:Slco1a7
|
UTSW |
6 |
141,713,288 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5062:Slco1a7
|
UTSW |
6 |
141,713,180 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5389:Slco1a7
|
UTSW |
6 |
141,686,193 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5419:Slco1a7
|
UTSW |
6 |
141,681,826 (GRCm39) |
splice site |
probably null |
|
|
R5423:Slco1a7
|
UTSW |
6 |
141,690,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Slco1a7
|
UTSW |
6 |
141,658,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5973:Slco1a7
|
UTSW |
6 |
141,700,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6041:Slco1a7
|
UTSW |
6 |
141,684,764 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6284:Slco1a7
|
UTSW |
6 |
141,671,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Slco1a7
|
UTSW |
6 |
141,668,818 (GRCm39) |
splice site |
probably null |
|
|
R6993:Slco1a7
|
UTSW |
6 |
141,711,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7149:Slco1a7
|
UTSW |
6 |
141,690,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Slco1a7
|
UTSW |
6 |
141,719,504 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R7627:Slco1a7
|
UTSW |
6 |
141,690,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Slco1a7
|
UTSW |
6 |
141,658,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7873:Slco1a7
|
UTSW |
6 |
141,673,448 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8670:Slco1a7
|
UTSW |
6 |
141,711,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8720:Slco1a7
|
UTSW |
6 |
141,668,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9124:Slco1a7
|
UTSW |
6 |
141,668,830 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9238:Slco1a7
|
UTSW |
6 |
141,686,153 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9381:Slco1a7
|
UTSW |
6 |
141,711,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0020:Slco1a7
|
UTSW |
6 |
141,700,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation