Incidental Mutation 'RF021:Slco1a8'
ID |
603878 |
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 # |
RF021 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 141954440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 31
(V31E)
|
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: V11E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107463 Gene: ENSMUSG00000079263 AA Change: V11E
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: V31E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137967 Gene: ENSMUSG00000079263 AA Change: V31E
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: V11E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137696 Gene: ENSMUSG00000079263 AA Change: V11E
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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
Validation Efficiency |
91% (50/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,817,471 (GRCm39) |
H79R |
probably damaging |
Het |
Atg9a |
T |
A |
1: 75,159,273 (GRCm39) |
E826V |
probably damaging |
Het |
Atrnl1 |
T |
C |
19: 57,630,905 (GRCm39) |
V224A |
probably benign |
Het |
Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAATATTATTATTAT |
3: 37,104,897 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
G |
A |
16: 30,078,156 (GRCm39) |
A515V |
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,734,785 (GRCm39) |
F402S |
possibly damaging |
Het |
Defb22 |
TGCGGCA |
TGCGGCAGAGCTGGGCGTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
G |
T |
5: 124,854,971 (GRCm39) |
V2016F |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,542,290 (GRCm39) |
|
probably null |
Het |
Efhd2 |
GCC |
GCCGCCCCC |
4: 141,602,084 (GRCm39) |
|
probably benign |
Het |
Fam131a |
A |
C |
16: 20,513,690 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
AGACCAGACC |
A |
14: 51,601,781 (GRCm39) |
|
probably benign |
Het |
Gna13 |
T |
C |
11: 109,283,218 (GRCm39) |
V186A |
probably benign |
Het |
Grk3 |
T |
A |
5: 113,089,554 (GRCm39) |
I333L |
probably benign |
Het |
Gstp1 |
A |
T |
19: 4,085,507 (GRCm39) |
V200E |
probably benign |
Het |
Gtf2h1 |
T |
G |
7: 46,453,289 (GRCm39) |
V74G |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Kiz |
A |
G |
2: 146,712,750 (GRCm39) |
D138G |
possibly damaging |
Het |
Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
Lats1 |
A |
G |
10: 7,586,372 (GRCm39) |
T912A |
probably damaging |
Het |
Lce1m |
GCTGCCACC |
GCTGCCACCACTTCTGCCACC |
3: 92,925,576 (GRCm39) |
|
probably benign |
Het |
Lce1m |
TGCC |
TGCCGCCGCTGCCGCC |
3: 92,925,602 (GRCm39) |
|
probably benign |
Het |
Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,810,744 (GRCm39) |
|
probably null |
Het |
Med12l |
T |
C |
3: 58,980,711 (GRCm39) |
F359S |
probably benign |
Het |
Mmut |
A |
G |
17: 41,262,649 (GRCm39) |
I444V |
probably benign |
Het |
Ncoa2 |
CTTAAAA |
C |
1: 13,219,333 (GRCm39) |
|
probably benign |
Het |
Ngp |
A |
G |
9: 110,250,824 (GRCm39) |
T114A |
possibly damaging |
Het |
Nlrc5 |
A |
T |
8: 95,203,516 (GRCm39) |
T539S |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,749,673 (GRCm39) |
D190G |
probably damaging |
Het |
Or6c2b |
A |
T |
10: 128,948,211 (GRCm39) |
F28I |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,821,341 (GRCm39) |
M81L |
probably benign |
Het |
Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
Prdm15 |
G |
A |
16: 97,609,956 (GRCm39) |
H563Y |
probably damaging |
Het |
Rbm12 |
CAGG |
CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
Sema3g |
C |
T |
14: 30,949,798 (GRCm39) |
H660Y |
probably damaging |
Het |
Smarca2 |
AGCAGCAGCAGCAGCAGCAGCA |
AGCAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,608,397 (GRCm39) |
|
probably benign |
Het |
Stpg2 |
A |
T |
3: 138,918,011 (GRCm39) |
|
probably null |
Het |
Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
Tbcb |
C |
T |
7: 29,923,771 (GRCm39) |
V208M |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,915,030 (GRCm39) |
Q2169L |
possibly damaging |
Het |
Tln1 |
A |
G |
4: 43,555,890 (GRCm39) |
V108A |
probably damaging |
Het |
Tmc8 |
T |
C |
11: 117,674,060 (GRCm39) |
M42T |
probably benign |
Het |
Trdc |
T |
C |
14: 54,381,660 (GRCm39) |
V115A |
|
Het |
Ttbk2 |
A |
G |
2: 120,579,115 (GRCm39) |
V669A |
probably benign |
Het |
Tusc1 |
GCC |
GCCACCACC |
4: 93,223,553 (GRCm39) |
|
probably benign |
Het |
Utp25 |
A |
G |
1: 192,802,974 (GRCm39) |
F248L |
probably benign |
Het |
Vps16 |
A |
G |
2: 130,280,129 (GRCm39) |
H118R |
probably benign |
Het |
Wdpcp |
T |
A |
11: 21,661,587 (GRCm39) |
C286* |
probably null |
Het |
Zbed4 |
C |
A |
15: 88,665,439 (GRCm39) |
Y502* |
probably null |
Het |
Zdbf2 |
T |
A |
1: 63,341,811 (GRCm39) |
N63K |
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 |
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 |
|
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'- GGCAATGTCAAGAGTATGTGC -3'
(R):5'- AAAGTTTCTTGGATGTTCAAGGGC -3'
Sequencing Primer
(F):5'- GTGCTACAAATTAGGTGTCATCATG -3'
(R):5'- TTCAAGGGCTATTTATGTTGGATAC -3'
|
Posted On |
2019-12-04 |