Incidental Mutation 'IGL02678:Slco1a8'
| ID |
303217 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a8
|
| Ensembl Gene |
ENSMUSG00000079263 |
| Gene Name |
solute carrier organic anion transporter family, member 1a8 |
| Synonyms |
Gm6614 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL02678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141954444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 10
(Y10N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111832]
[ENSMUST00000181628]
[ENSMUST00000181791]
|
| AlphaFold |
M0QWR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111832
AA Change: Y10N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: Y10N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
577 |
2.5e-156 |
PFAM |
|
Pfam:MFS_1
|
125 |
402 |
1e-23 |
PFAM |
|
Pfam:Kazal_2
|
425 |
466 |
4.1e-9 |
PFAM |
|
transmembrane domain
|
580 |
602 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181628
AA Change: Y30N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: Y30N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
598 |
2.8e-187 |
PFAM |
|
Pfam:MFS_1
|
145 |
422 |
8e-24 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
1.1e-7 |
PFAM |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181791
AA Change: Y10N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: Y10N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
578 |
2.3e-186 |
PFAM |
|
Pfam:MFS_1
|
125 |
402 |
8.6e-24 |
PFAM |
|
Pfam:Kazal_2
|
425 |
466 |
1.4e-7 |
PFAM |
|
transmembrane domain
|
580 |
602 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,035,867 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,410,177 (GRCm39) |
E272G |
probably damaging |
Het |
| Alcam |
G |
A |
16: 52,094,401 (GRCm39) |
P416S |
probably damaging |
Het |
| B3galt1 |
A |
G |
2: 67,949,254 (GRCm39) |
H323R |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,163,697 (GRCm39) |
S665N |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,956,898 (GRCm39) |
S3631P |
probably damaging |
Het |
| Capn3 |
A |
C |
2: 120,333,479 (GRCm39) |
N621T |
probably damaging |
Het |
| Cblif |
T |
C |
19: 11,725,839 (GRCm39) |
M43T |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,437,151 (GRCm39) |
H480Y |
probably damaging |
Het |
| Ccr2 |
T |
A |
9: 123,906,783 (GRCm39) |
D354E |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,292,530 (GRCm39) |
D335A |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,830,646 (GRCm39) |
Y360C |
probably damaging |
Het |
| Chrd |
G |
T |
16: 20,552,770 (GRCm39) |
R89L |
probably damaging |
Het |
| Cops2 |
T |
C |
2: 125,686,831 (GRCm39) |
R91G |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,266,106 (GRCm39) |
T88A |
probably benign |
Het |
| Dnai1 |
A |
C |
4: 41,602,917 (GRCm39) |
E140A |
probably benign |
Het |
| Eif1ad17 |
C |
A |
12: 87,978,946 (GRCm39) |
P110Q |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,751,814 (GRCm39) |
D2063G |
probably damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,623,584 (GRCm39) |
|
probably benign |
Het |
| Gng7 |
C |
A |
10: 80,787,518 (GRCm39) |
L48F |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,057,246 (GRCm39) |
C2725F |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,583,373 (GRCm39) |
K159R |
probably damaging |
Het |
| Insr |
G |
T |
8: 3,223,570 (GRCm39) |
N854K |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,971,610 (GRCm39) |
|
probably null |
Het |
| Lcat |
A |
G |
8: 106,668,572 (GRCm39) |
|
probably null |
Het |
| Mb21d2 |
T |
C |
16: 28,646,801 (GRCm39) |
E391G |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,942,915 (GRCm39) |
S354P |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,357,320 (GRCm39) |
|
probably null |
Het |
| Mycl |
G |
A |
4: 122,893,776 (GRCm39) |
R192Q |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,786,836 (GRCm39) |
V78A |
probably benign |
Het |
| Nipbl |
G |
T |
15: 8,380,594 (GRCm39) |
P733T |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,280,198 (GRCm39) |
I450T |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,757 (GRCm39) |
E389V |
probably benign |
Het |
| Or8g30 |
C |
T |
9: 39,230,217 (GRCm39) |
S231N |
probably benign |
Het |
| Oxgr1 |
A |
G |
14: 120,259,580 (GRCm39) |
L209P |
probably damaging |
Het |
| Pak1 |
A |
C |
7: 97,543,209 (GRCm39) |
T291P |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,240,045 (GRCm39) |
I338K |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,195 (GRCm39) |
D364G |
probably damaging |
Het |
| Pomk |
G |
A |
8: 26,473,135 (GRCm39) |
P273S |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,418 (GRCm39) |
I38F |
probably damaging |
Het |
| Rbks |
G |
T |
5: 31,830,757 (GRCm39) |
T42N |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,107 (GRCm39) |
V20A |
probably damaging |
Het |
| Six4 |
T |
C |
12: 73,159,408 (GRCm39) |
Y176C |
probably damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,310,081 (GRCm39) |
M9L |
possibly damaging |
Het |
| Slc16a11 |
T |
C |
11: 70,106,242 (GRCm39) |
L112S |
probably damaging |
Het |
| Slc25a28 |
A |
T |
19: 43,655,586 (GRCm39) |
|
probably benign |
Het |
| Slc30a3 |
G |
A |
5: 31,245,676 (GRCm39) |
R237* |
probably null |
Het |
| Smc1b |
G |
A |
15: 84,949,201 (GRCm39) |
R1237* |
probably null |
Het |
| Smtn |
T |
C |
11: 3,476,353 (GRCm39) |
E585G |
possibly damaging |
Het |
| Spatc1 |
A |
T |
15: 76,176,572 (GRCm39) |
D441V |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,426 (GRCm39) |
N2481D |
probably damaging |
Het |
| Tnks2 |
A |
T |
19: 36,823,143 (GRCm39) |
I137F |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,849,649 (GRCm39) |
K1472E |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,708,660 (GRCm39) |
E1846* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,221,640 (GRCm39) |
D532G |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,067 (GRCm39) |
H168L |
probably damaging |
Het |
| Zfp977 |
G |
A |
7: 42,232,419 (GRCm39) |
T14I |
probably damaging |
Het |
|
| Other mutations in Slco1a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01354:Slco1a8
|
APN |
6 |
141,936,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01548:Slco1a8
|
APN |
6 |
141,938,238 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01552:Slco1a8
|
APN |
6 |
141,933,432 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02207:Slco1a8
|
APN |
6 |
141,936,158 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02227:Slco1a8
|
APN |
6 |
141,939,401 (GRCm39) |
nonsense |
probably null |
|
|
IGL02547:Slco1a8
|
APN |
6 |
141,936,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02695:Slco1a8
|
APN |
6 |
141,933,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02851:Slco1a8
|
APN |
6 |
141,949,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Slco1a8
|
APN |
6 |
141,917,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02898:Slco1a8
|
APN |
6 |
141,940,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03036:Slco1a8
|
APN |
6 |
141,954,333 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03065:Slco1a8
|
APN |
6 |
141,938,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03300:Slco1a8
|
APN |
6 |
141,940,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0020:Slco1a8
|
UTSW |
6 |
141,918,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0020:Slco1a8
|
UTSW |
6 |
141,918,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0049:Slco1a8
|
UTSW |
6 |
141,936,147 (GRCm39) |
missense |
probably benign |
|
|
R0049:Slco1a8
|
UTSW |
6 |
141,936,147 (GRCm39) |
missense |
probably benign |
|
|
R0149:Slco1a8
|
UTSW |
6 |
141,938,203 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0270:Slco1a8
|
UTSW |
6 |
141,918,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0360:Slco1a8
|
UTSW |
6 |
141,928,053 (GRCm39) |
splice site |
probably benign |
|
|
R0420:Slco1a8
|
UTSW |
6 |
141,931,203 (GRCm39) |
splice site |
probably benign |
|
|
R0737:Slco1a8
|
UTSW |
6 |
141,949,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1344:Slco1a8
|
UTSW |
6 |
141,931,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Slco1a8
|
UTSW |
6 |
141,938,243 (GRCm39) |
nonsense |
probably null |
|
|
R1464:Slco1a8
|
UTSW |
6 |
141,938,243 (GRCm39) |
nonsense |
probably null |
|
|
R1590:Slco1a8
|
UTSW |
6 |
141,926,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Slco1a8
|
UTSW |
6 |
141,927,775 (GRCm39) |
splice site |
probably null |
|
|
R1669:Slco1a8
|
UTSW |
6 |
141,933,415 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1862:Slco1a8
|
UTSW |
6 |
141,949,149 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1882:Slco1a8
|
UTSW |
6 |
141,939,363 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2134:Slco1a8
|
UTSW |
6 |
141,926,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Slco1a8
|
UTSW |
6 |
141,926,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Slco1a8
|
UTSW |
6 |
141,926,664 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2227:Slco1a8
|
UTSW |
6 |
141,938,087 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2382:Slco1a8
|
UTSW |
6 |
141,936,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3773:Slco1a8
|
UTSW |
6 |
141,918,061 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4869:Slco1a8
|
UTSW |
6 |
141,933,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Slco1a8
|
UTSW |
6 |
141,926,599 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5061:Slco1a8
|
UTSW |
6 |
141,954,414 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5079:Slco1a8
|
UTSW |
6 |
141,918,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5312:Slco1a8
|
UTSW |
6 |
141,918,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5691:Slco1a8
|
UTSW |
6 |
141,940,581 (GRCm39) |
nonsense |
probably null |
|
|
R5874:Slco1a8
|
UTSW |
6 |
141,917,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5945:Slco1a8
|
UTSW |
6 |
141,940,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Slco1a8
|
UTSW |
6 |
141,939,368 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7305:Slco1a8
|
UTSW |
6 |
141,938,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Slco1a8
|
UTSW |
6 |
141,934,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7427:Slco1a8
|
UTSW |
6 |
141,949,234 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7728:Slco1a8
|
UTSW |
6 |
141,933,436 (GRCm39) |
nonsense |
probably null |
|
|
R7949:Slco1a8
|
UTSW |
6 |
141,939,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Slco1a8
|
UTSW |
6 |
141,933,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8095:Slco1a8
|
UTSW |
6 |
141,933,415 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8472:Slco1a8
|
UTSW |
6 |
141,949,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8687:Slco1a8
|
UTSW |
6 |
141,939,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8788:Slco1a8
|
UTSW |
6 |
141,933,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8869:Slco1a8
|
UTSW |
6 |
141,927,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9162:Slco1a8
|
UTSW |
6 |
141,939,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Slco1a8
|
UTSW |
6 |
141,926,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9280:Slco1a8
|
UTSW |
6 |
141,939,978 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9398:Slco1a8
|
UTSW |
6 |
141,940,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9600:Slco1a8
|
UTSW |
6 |
141,949,234 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
RF021:Slco1a8
|
UTSW |
6 |
141,954,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Slco1a8
|
UTSW |
6 |
141,936,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Slco1a8
|
UTSW |
6 |
141,939,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation