Incidental Mutation 'R1590:Slco1a8'
ID |
177803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a8
|
Ensembl Gene |
ENSMUSG00000079263 |
Gene Name |
solute carrier organic anion transporter family, member 1a8 |
Synonyms |
Gm6614 |
MMRRC Submission |
039627-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R1590 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 141926598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 576
(S576N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111832]
[ENSMUST00000181628]
[ENSMUST00000181791]
|
AlphaFold |
M0QWR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111832
AA Change: S576N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107463 Gene: ENSMUSG00000079263 AA Change: S576N
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 |
noncoding transcript
Transcript: ENSMUST00000158991
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181628
AA Change: S596N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000137967 Gene: ENSMUSG00000079263 AA Change: S596N
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 benign
Transcript: ENSMUST00000181791
AA Change: S576N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000137696 Gene: ENSMUSG00000079263 AA Change: S576N
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.4%
|
Validation Efficiency |
97% (69/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,322,370 (GRCm39) |
S95P |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,816,397 (GRCm39) |
Y239C |
probably damaging |
Het |
Atp12a |
T |
C |
14: 56,617,512 (GRCm39) |
S601P |
probably damaging |
Het |
Atp1b3 |
T |
C |
9: 96,225,402 (GRCm39) |
T89A |
probably benign |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
Brme1 |
A |
T |
8: 84,893,715 (GRCm39) |
Q294L |
probably benign |
Het |
Btnl2 |
A |
T |
17: 34,580,114 (GRCm39) |
I216F |
possibly damaging |
Het |
Cabs1 |
A |
T |
5: 88,127,490 (GRCm39) |
H47L |
probably damaging |
Het |
Ccdc68 |
T |
A |
18: 70,073,251 (GRCm39) |
D66E |
probably benign |
Het |
Cdc42ep4 |
T |
C |
11: 113,619,392 (GRCm39) |
D333G |
possibly damaging |
Het |
Ckmt1 |
G |
A |
2: 121,194,003 (GRCm39) |
D389N |
possibly damaging |
Het |
Dact1 |
G |
T |
12: 71,364,349 (GRCm39) |
V340F |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,412,024 (GRCm39) |
T246A |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,313,580 (GRCm39) |
|
probably null |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Efcab14 |
A |
G |
4: 115,613,746 (GRCm39) |
|
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,133,707 (GRCm39) |
T795A |
probably damaging |
Het |
Esp36 |
T |
A |
17: 38,728,202 (GRCm39) |
E26D |
possibly damaging |
Het |
Fpr-rs7 |
T |
C |
17: 20,333,678 (GRCm39) |
T271A |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,813,131 (GRCm39) |
H3150L |
probably benign |
Het |
Gimap7 |
G |
A |
6: 48,700,953 (GRCm39) |
V180M |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,275,833 (GRCm39) |
H531R |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,399,235 (GRCm39) |
|
probably benign |
Het |
Hip1r |
A |
G |
5: 124,140,203 (GRCm39) |
Y1061C |
probably benign |
Het |
Ipo11 |
T |
C |
13: 107,023,225 (GRCm39) |
Y420C |
probably damaging |
Het |
Ipo8 |
T |
C |
6: 148,712,163 (GRCm39) |
|
probably null |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Klhl1 |
A |
T |
14: 96,606,072 (GRCm39) |
M243K |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,297,107 (GRCm39) |
|
probably null |
Het |
Mag |
T |
C |
7: 30,601,277 (GRCm39) |
E439G |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,332,375 (GRCm39) |
F1231I |
probably benign |
Het |
Mcmdc2 |
C |
T |
1: 9,986,780 (GRCm39) |
Q204* |
probably null |
Het |
Mpl |
A |
C |
4: 118,301,221 (GRCm39) |
L548R |
probably damaging |
Het |
Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
Myo18b |
G |
A |
5: 113,023,132 (GRCm39) |
Q87* |
probably null |
Het |
Nfat5 |
A |
G |
8: 108,020,522 (GRCm39) |
Y22C |
probably damaging |
Het |
Nnt |
T |
A |
13: 119,523,197 (GRCm39) |
I232L |
possibly damaging |
Het |
Or2a52 |
A |
G |
6: 43,144,846 (GRCm39) |
N285D |
probably damaging |
Het |
Or8g17 |
T |
C |
9: 38,930,253 (GRCm39) |
N195D |
probably benign |
Het |
Or9s13 |
G |
A |
1: 92,548,467 (GRCm39) |
V280M |
possibly damaging |
Het |
Parp2 |
C |
T |
14: 51,048,001 (GRCm39) |
P76S |
probably benign |
Het |
Pick1 |
C |
T |
15: 79,129,501 (GRCm39) |
H169Y |
probably benign |
Het |
Prtg |
T |
A |
9: 72,750,089 (GRCm39) |
F164L |
probably benign |
Het |
Pygb |
A |
G |
2: 150,659,583 (GRCm39) |
D422G |
possibly damaging |
Het |
Samd9l |
C |
A |
6: 3,375,761 (GRCm39) |
C500F |
probably benign |
Het |
Sbno1 |
A |
C |
5: 124,522,567 (GRCm39) |
N1083K |
possibly damaging |
Het |
Septin7 |
C |
T |
9: 25,188,900 (GRCm39) |
S77F |
probably damaging |
Het |
Slc25a44 |
A |
G |
3: 88,323,314 (GRCm39) |
V264A |
possibly damaging |
Het |
Slf2 |
G |
T |
19: 44,930,512 (GRCm39) |
E530* |
probably null |
Het |
Svs5 |
A |
G |
2: 164,079,578 (GRCm39) |
S110P |
possibly damaging |
Het |
Tmbim7 |
G |
T |
5: 3,715,338 (GRCm39) |
|
probably null |
Het |
Tpgs2 |
T |
C |
18: 25,273,630 (GRCm39) |
D177G |
probably damaging |
Het |
Uba1y |
T |
A |
Y: 826,893 (GRCm39) |
F516L |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,943,632 (GRCm39) |
V211A |
probably damaging |
Het |
Vmn1r237 |
T |
A |
17: 21,534,301 (GRCm39) |
I8N |
probably damaging |
Het |
Vmn2r103 |
G |
T |
17: 20,014,496 (GRCm39) |
M429I |
probably benign |
Het |
Vmn2r112 |
T |
C |
17: 22,833,989 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
T |
C |
10: 130,227,349 (GRCm39) |
|
probably null |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAGATACAGCTCTCCTCCGCTAC -3'
(R):5'- ACGCACAGCTTTCATTTGTTGTGATTT -3'
Sequencing Primer
(F):5'- gtacaggggaacgccag -3'
(R):5'- CCTAAAAGTAAGCTGTGAGCATTTG -3'
|
Posted On |
2014-04-24 |