Incidental Mutation 'R5061:Slco1a8'
| ID |
386615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a8
|
| Ensembl Gene |
ENSMUSG00000079263 |
| Gene Name |
solute carrier organic anion transporter family, member 1a8 |
| Synonyms |
Gm6614 |
| MMRRC Submission |
042651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141954414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 20
(M20L)
|
| 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: M20L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: M20L
| 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 benign
Transcript: ENSMUST00000181628
AA Change: M40L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: M40L
| 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: M20L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: M20L
| 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 |
0.1021 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,450,953 (GRCm39) |
H53R |
probably benign |
Het |
| Abcg1 |
A |
G |
17: 31,311,366 (GRCm39) |
K124E |
probably damaging |
Het |
| Acot4 |
G |
T |
12: 84,085,475 (GRCm39) |
R64L |
probably benign |
Het |
| Adam22 |
G |
C |
5: 8,230,238 (GRCm39) |
|
probably benign |
Het |
| Add2 |
G |
A |
6: 86,064,029 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
G |
A |
1: 25,107,209 (GRCm39) |
|
probably benign |
Het |
| Akap8l |
T |
G |
17: 32,551,868 (GRCm39) |
K441T |
probably damaging |
Het |
| Aspn |
T |
A |
13: 49,720,080 (GRCm39) |
S365R |
probably damaging |
Het |
| Atxn1 |
T |
G |
13: 45,710,569 (GRCm39) |
K788Q |
probably damaging |
Het |
| Atxn2l |
G |
T |
7: 126,099,375 (GRCm39) |
H135N |
probably damaging |
Het |
| Borcs8 |
T |
G |
8: 70,593,008 (GRCm39) |
|
probably null |
Het |
| Col5a1 |
G |
A |
2: 27,842,390 (GRCm39) |
D422N |
unknown |
Het |
| Cstad |
A |
T |
2: 30,498,275 (GRCm39) |
T37S |
unknown |
Het |
| Dgkq |
A |
T |
5: 108,801,989 (GRCm39) |
D455E |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,385,161 (GRCm39) |
|
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,915,288 (GRCm39) |
I84V |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Eif3e |
A |
T |
15: 43,115,657 (GRCm39) |
W370R |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,431,689 (GRCm39) |
D323E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,021,749 (GRCm39) |
L1408P |
probably benign |
Het |
| Fam110d |
T |
C |
4: 133,979,041 (GRCm39) |
T146A |
probably benign |
Het |
| Gfod1 |
C |
T |
13: 43,353,992 (GRCm39) |
G328S |
probably benign |
Het |
| Gja1 |
T |
A |
10: 56,263,752 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm10650 |
T |
A |
3: 127,833,666 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14226 |
T |
A |
2: 154,867,106 (GRCm39) |
H354Q |
probably benign |
Het |
| Gm15056 |
T |
C |
8: 21,390,758 (GRCm39) |
T60A |
probably benign |
Het |
| Hsd11b1 |
A |
T |
1: 192,924,553 (GRCm39) |
N6K |
probably benign |
Het |
| Ighv1-36 |
T |
C |
12: 114,843,742 (GRCm39) |
I39M |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kdm7a |
G |
A |
6: 39,128,386 (GRCm39) |
P482S |
possibly damaging |
Het |
| Lama5 |
C |
A |
2: 179,840,579 (GRCm39) |
E607* |
probably null |
Het |
| Lao1 |
T |
A |
4: 118,824,673 (GRCm39) |
S252T |
probably benign |
Het |
| Lrp12 |
A |
G |
15: 39,741,650 (GRCm39) |
F355S |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,137,043 (GRCm39) |
F421S |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,268,812 (GRCm39) |
E530G |
probably benign |
Het |
| Nifk |
T |
C |
1: 118,260,669 (GRCm39) |
*270R |
probably null |
Het |
| Ocln |
T |
C |
13: 100,676,106 (GRCm39) |
Y129C |
probably damaging |
Het |
| Or10ag60 |
C |
T |
2: 87,438,176 (GRCm39) |
T148I |
probably benign |
Het |
| Or4f54 |
T |
A |
2: 111,122,832 (GRCm39) |
L73H |
probably damaging |
Het |
| Or52l1 |
T |
A |
7: 104,829,864 (GRCm39) |
I219F |
possibly damaging |
Het |
| Or5b117 |
A |
T |
19: 13,431,349 (GRCm39) |
C177* |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Ppcs |
T |
C |
4: 119,276,412 (GRCm39) |
K58E |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,265,196 (GRCm39) |
T123A |
probably damaging |
Het |
| Rap1gap |
T |
A |
4: 137,447,744 (GRCm39) |
|
probably null |
Het |
| Rbm18 |
A |
G |
2: 36,017,217 (GRCm39) |
F54L |
possibly damaging |
Het |
| Rwdd3 |
G |
A |
3: 120,953,432 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,650,422 (GRCm39) |
K138E |
possibly damaging |
Het |
| Sec24a |
T |
C |
11: 51,604,359 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
A |
G |
1: 107,468,701 (GRCm39) |
T115A |
probably benign |
Het |
| Slx4ip |
T |
G |
2: 136,885,930 (GRCm39) |
F83L |
probably damaging |
Het |
| St3gal1 |
A |
T |
15: 66,980,078 (GRCm39) |
S274T |
probably benign |
Het |
| Stab1 |
A |
C |
14: 30,885,056 (GRCm39) |
C121W |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,743,249 (GRCm39) |
L1149P |
probably damaging |
Het |
| Svil |
T |
G |
18: 5,048,954 (GRCm39) |
I77R |
probably benign |
Het |
| Tbk1 |
T |
G |
10: 121,412,241 (GRCm39) |
E47A |
possibly damaging |
Het |
| Tert |
C |
T |
13: 73,782,397 (GRCm39) |
T557I |
probably damaging |
Het |
| Tfap2c |
A |
G |
2: 172,393,947 (GRCm39) |
D252G |
probably damaging |
Het |
| Tll1 |
C |
A |
8: 64,506,983 (GRCm39) |
C586F |
probably damaging |
Het |
| Tln2 |
T |
G |
9: 67,261,750 (GRCm39) |
N663T |
probably benign |
Het |
| Tmem245 |
T |
A |
4: 56,946,945 (GRCm39) |
Y156F |
possibly damaging |
Het |
| Uhrf1 |
G |
T |
17: 56,627,542 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
A |
12: 103,134,700 (GRCm39) |
M2417K |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,471 (GRCm39) |
V5011A |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,840 (GRCm39) |
V47A |
possibly damaging |
Het |
| Vmn2r53 |
A |
C |
7: 12,315,741 (GRCm39) |
S693A |
probably benign |
Het |
| Vps54 |
G |
A |
11: 21,269,881 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,907,318 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GGCAATGTCAAGAGTATGTGCTAC -3'
(R):5'- TAAAGTTTCTTGGATGTTCAAGGGC -3'
Sequencing Primer
(F):5'- GTGCTACAAATTAGGTGTCATCATG -3'
(R):5'- TTCAAGGGCTATTTATGTTGGATAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation