Incidental Mutation 'R8869:Slco1a8'
| ID |
676136 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8869 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141927810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 548
(V548A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111832]
[ENSMUST00000181628]
[ENSMUST00000181791]
|
| AlphaFold |
M0QWR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111832
AA Change: V528A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: V528A
| 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: V548A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: V548A
| 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: V528A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: V528A
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
G |
A |
19: 55,266,523 (GRCm39) |
R114Q |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,054,690 (GRCm39) |
V980I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,013,007 (GRCm39) |
C1895S |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,614,729 (GRCm39) |
D55E |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,809,280 (GRCm39) |
D255G |
probably benign |
Het |
| Ccdc168 |
A |
T |
1: 44,097,425 (GRCm39) |
D1224E |
possibly damaging |
Het |
| Ces2f |
C |
A |
8: 105,676,704 (GRCm39) |
P133T |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,460,505 (GRCm39) |
M1156L |
possibly damaging |
Het |
| Clock |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
5: 76,374,889 (GRCm39) |
|
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,096 (GRCm39) |
I67F |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,448,656 (GRCm39) |
I84V |
|
Het |
| Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
| Dhdh |
G |
T |
7: 45,137,536 (GRCm39) |
N50K |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,671,504 (GRCm39) |
E1631V |
probably damaging |
Het |
| Dusp23 |
A |
G |
1: 172,460,293 (GRCm39) |
C53R |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,928,432 (GRCm39) |
S54L |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,739,335 (GRCm39) |
F212L |
probably damaging |
Het |
| Gfap |
G |
C |
11: 102,787,810 (GRCm39) |
A45G |
probably benign |
Het |
| Grm8 |
C |
T |
6: 27,363,752 (GRCm39) |
V588M |
probably benign |
Het |
| H1f8 |
A |
G |
6: 115,926,911 (GRCm39) |
T263A |
probably benign |
Het |
| Hoatz |
T |
A |
9: 50,992,832 (GRCm39) |
|
probably null |
Het |
| Inhca |
T |
C |
9: 103,149,831 (GRCm39) |
Y242C |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,570,368 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,997,366 (GRCm39) |
V1728A |
probably benign |
Het |
| Nxph2 |
T |
A |
2: 23,290,071 (GRCm39) |
V141D |
probably damaging |
Het |
| Or11l3 |
T |
C |
11: 58,515,994 (GRCm39) |
E106G |
unknown |
Het |
| Or2t26 |
A |
T |
11: 49,039,483 (GRCm39) |
Y133F |
probably damaging |
Het |
| Or4f6 |
A |
T |
2: 111,838,596 (GRCm39) |
S312T |
possibly damaging |
Het |
| Or5b121 |
A |
T |
19: 13,507,892 (GRCm39) |
N329I |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,753 (GRCm39) |
|
probably null |
Het |
| Or5h25 |
A |
G |
16: 58,930,121 (GRCm39) |
V284A |
|
Het |
| Or5w10 |
A |
T |
2: 87,375,753 (GRCm39) |
M45K |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,279,142 (GRCm39) |
N90S |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,578,325 (GRCm39) |
I108F |
probably benign |
Het |
| Pcdha4 |
A |
T |
18: 37,086,011 (GRCm39) |
R65* |
probably null |
Het |
| Pde11a |
T |
C |
2: 76,041,434 (GRCm39) |
H412R |
probably benign |
Het |
| Peli3 |
C |
T |
19: 4,982,541 (GRCm39) |
G375S |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,561,927 (GRCm39) |
|
probably null |
Het |
| Prcp |
T |
C |
7: 92,559,518 (GRCm39) |
V194A |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,370 (GRCm39) |
|
probably null |
Het |
| Prss23 |
A |
T |
7: 89,159,887 (GRCm39) |
S61T |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,535,469 (GRCm39) |
R432H |
probably damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,101 (GRCm39) |
N88I |
possibly damaging |
Het |
| Rspry1 |
G |
T |
8: 95,359,780 (GRCm39) |
L230F |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,301 (GRCm39) |
L65P |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,933,722 (GRCm39) |
Y1083H |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,986,386 (GRCm39) |
S241P |
probably damaging |
Het |
| Tmed6 |
A |
C |
8: 107,792,164 (GRCm39) |
L27R |
probably damaging |
Het |
| Tmem52 |
G |
A |
4: 155,553,788 (GRCm39) |
C32Y |
probably damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,750,834 (GRCm39) |
G1022* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,345 (GRCm39) |
S5085G |
unknown |
Het |
| Vmn2r37 |
C |
T |
7: 9,209,854 (GRCm39) |
V553M |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,123,210 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp735 |
T |
A |
11: 73,602,510 (GRCm39) |
C485S |
possibly 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 |
|
IGL02678:Slco1a8
|
APN |
6 |
141,954,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACAAGGTCATGACACTTTATG -3'
(R):5'- TGAGAGAGGTAAGTATGTCACATTC -3'
Sequencing Primer
(F):5'- AGAGCACAGAACTCTTTGCTTTGC -3'
(R):5'- GTCACATTCTTACACTTTTCAGGATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation