Incidental Mutation 'R0737:Slco1a8'
| ID |
70509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a8
|
| Ensembl Gene |
ENSMUSG00000079263 |
| Gene Name |
solute carrier organic anion transporter family, member 1a8 |
| Synonyms |
Gm6614 |
| MMRRC Submission |
038918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R0737 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 141949154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 74
(A74E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111832]
[ENSMUST00000181628]
[ENSMUST00000181791]
|
| AlphaFold |
M0QWR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111832
AA Change: A74E
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: A74E
| 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 |
possibly damaging
Transcript: ENSMUST00000181628
AA Change: A94E
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: A94E
| 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 |
possibly damaging
Transcript: ENSMUST00000181791
AA Change: A74E
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: A74E
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
T |
A |
X: 69,437,813 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
T |
A |
11: 53,301,780 (GRCm39) |
L1043* |
probably null |
Het |
| Ankrd11 |
G |
T |
8: 123,622,575 (GRCm39) |
R426S |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,367,866 (GRCm39) |
N2422I |
probably damaging |
Het |
| Bahcc1 |
C |
A |
11: 120,163,667 (GRCm39) |
P655Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,951,949 (GRCm39) |
I556V |
possibly damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,989,331 (GRCm39) |
D114G |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,255,612 (GRCm39) |
H424R |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,438,299 (GRCm39) |
E864G |
possibly damaging |
Het |
| Cit |
T |
A |
5: 116,084,978 (GRCm39) |
S836R |
probably damaging |
Het |
| Clip4 |
C |
T |
17: 72,144,694 (GRCm39) |
Q95* |
probably null |
Het |
| Col17a1 |
C |
T |
19: 47,657,872 (GRCm39) |
G433S |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,756,020 (GRCm39) |
F90L |
probably damaging |
Het |
| Cybc1 |
C |
T |
11: 121,118,068 (GRCm39) |
|
probably null |
Het |
| Degs1l |
G |
A |
1: 180,882,944 (GRCm39) |
M235I |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,998,724 (GRCm39) |
H1108R |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,872,110 (GRCm39) |
M295K |
probably damaging |
Het |
| Epas1 |
G |
T |
17: 87,136,884 (GRCm39) |
G816C |
possibly damaging |
Het |
| Ermap |
C |
A |
4: 119,035,707 (GRCm39) |
C427F |
probably damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,243,266 (GRCm39) |
|
probably benign |
Het |
| Fmo4 |
T |
A |
1: 162,635,961 (GRCm39) |
K14* |
probably null |
Het |
| Gadl1 |
G |
A |
9: 115,903,055 (GRCm39) |
M461I |
probably damaging |
Het |
| Garnl3 |
T |
A |
2: 32,880,654 (GRCm39) |
I868F |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,169,245 (GRCm39) |
D204G |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 120,106,795 (GRCm39) |
F401S |
possibly damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,914,701 (GRCm39) |
M1L |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,620 (GRCm39) |
T292A |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lamb2 |
T |
A |
9: 108,360,993 (GRCm39) |
W572R |
probably benign |
Het |
| Letmd1 |
A |
G |
15: 100,367,702 (GRCm39) |
T87A |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,278,513 (GRCm39) |
Y3947H |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,822,044 (GRCm39) |
F685L |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,001,285 (GRCm39) |
F424I |
probably damaging |
Het |
| Nup88 |
A |
G |
11: 70,860,776 (GRCm39) |
M1T |
probably null |
Het |
| Or13p5 |
C |
T |
4: 118,592,421 (GRCm39) |
R232C |
probably benign |
Het |
| Or14c45 |
C |
T |
7: 86,176,195 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,740,617 (GRCm39) |
N40S |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,762 (GRCm39) |
V636D |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,565,453 (GRCm39) |
A73E |
probably damaging |
Het |
| Pdlim7 |
A |
T |
13: 55,652,693 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
G |
A |
9: 44,610,933 (GRCm39) |
P67S |
possibly damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,192,257 (GRCm39) |
T17A |
probably benign |
Het |
| Ppp4r3c2 |
A |
G |
X: 88,797,926 (GRCm39) |
H586R |
probably benign |
Het |
| Rab11fip4 |
T |
C |
11: 79,574,328 (GRCm39) |
V241A |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,768,690 (GRCm39) |
L216P |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 75,050,662 (GRCm39) |
D1352E |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,985,942 (GRCm39) |
I816F |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,536,498 (GRCm39) |
T220A |
probably benign |
Het |
| Tmco6 |
G |
A |
18: 36,874,829 (GRCm39) |
V439I |
probably damaging |
Het |
| Tmem64 |
A |
G |
4: 15,266,717 (GRCm39) |
I256V |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,882,880 (GRCm39) |
S236G |
possibly damaging |
Het |
| Tsc1 |
A |
G |
2: 28,560,942 (GRCm39) |
T267A |
possibly damaging |
Het |
| Txndc2 |
A |
G |
17: 65,946,548 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
A |
17: 18,497,695 (GRCm39) |
Q26* |
probably null |
Het |
| Zan |
T |
C |
5: 137,387,511 (GRCm39) |
D4900G |
unknown |
Het |
| Zkscan3 |
T |
C |
13: 21,572,766 (GRCm39) |
T122A |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGATTGTGGTGGCAAAGGAC -3'
(R):5'- CCATGTTGAACAACGAAGGTGGC -3'
Sequencing Primer
(F):5'- TGGTGGCAAAGGACTTACTC -3'
(R):5'- TCTATACAATCCCAAGGGATGGATG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation