Incidental Mutation 'R5079:Slco1a8'
| ID |
387022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a8
|
| Ensembl Gene |
ENSMUSG00000079263 |
| Gene Name |
solute carrier organic anion transporter family, member 1a8 |
| Synonyms |
Gm6614 |
| MMRRC Submission |
042668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 141918073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 601
(I601R)
|
| 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: I601R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: I601R
| 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: I621R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: I621R
| 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: I601R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: I601R
| 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: 96.1%
- 20x: 91.6%
|
| Validation Efficiency |
90% (63/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
C |
5: 109,885,196 (GRCm39) |
S221G |
probably benign |
Het |
| Abca9 |
A |
T |
11: 110,036,395 (GRCm39) |
F571L |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 111,423,826 (GRCm39) |
M284K |
possibly damaging |
Het |
| Ankrd16 |
A |
G |
2: 11,783,710 (GRCm39) |
D104G |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,817,168 (GRCm39) |
D230G |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,701,252 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,965,153 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
C |
T |
7: 131,756,014 (GRCm39) |
|
probably null |
Het |
| Crisp1 |
A |
T |
17: 40,619,867 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,801,564 (GRCm39) |
I908T |
possibly damaging |
Het |
| Csn3 |
T |
C |
5: 88,077,626 (GRCm39) |
V44A |
possibly damaging |
Het |
| Dipk1c |
A |
T |
18: 84,748,702 (GRCm39) |
H100L |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,369,474 (GRCm39) |
D102E |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,525,705 (GRCm39) |
Y111C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,910,423 (GRCm39) |
S1860G |
probably benign |
Het |
| Gba2 |
G |
T |
4: 43,568,640 (GRCm39) |
|
probably benign |
Het |
| Ggta1 |
A |
G |
2: 35,312,249 (GRCm39) |
I43T |
possibly damaging |
Het |
| Glb1l2 |
T |
C |
9: 26,682,405 (GRCm39) |
I149V |
probably benign |
Het |
| Gm5084 |
T |
A |
13: 60,360,639 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5591 |
G |
T |
7: 38,221,560 (GRCm39) |
P170T |
probably benign |
Het |
| Gucy2d |
A |
T |
7: 98,107,475 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
T |
C |
17: 27,317,397 (GRCm39) |
F851L |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,970,666 (GRCm39) |
I684N |
probably damaging |
Het |
| Klra17 |
C |
A |
6: 129,849,159 (GRCm39) |
K138N |
possibly damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,769 (GRCm39) |
H282L |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,931,938 (GRCm39) |
I3522T |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,044,000 (GRCm39) |
T312A |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,844,214 (GRCm39) |
R313G |
probably damaging |
Het |
| N4bp2 |
G |
A |
5: 65,969,320 (GRCm39) |
G1361R |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,424,712 (GRCm39) |
I984F |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,236,063 (GRCm39) |
Q579L |
possibly damaging |
Het |
| Nme9 |
A |
G |
9: 99,341,755 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5w13 |
C |
A |
2: 87,523,552 (GRCm39) |
V225F |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
| Paxbp1 |
C |
A |
16: 90,822,034 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
C |
A |
12: 82,025,863 (GRCm39) |
S1530* |
probably null |
Het |
| Pogk |
A |
G |
1: 166,226,733 (GRCm39) |
W473R |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,976,801 (GRCm39) |
S374T |
probably benign |
Het |
| Rcn1 |
A |
G |
2: 105,229,402 (GRCm39) |
F50S |
probably damaging |
Het |
| Rcvrn |
T |
A |
11: 67,593,767 (GRCm39) |
I186N |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,619 (GRCm39) |
I664N |
probably damaging |
Het |
| Sall2 |
G |
T |
14: 52,552,211 (GRCm39) |
A326E |
probably damaging |
Het |
| Sh2d6 |
G |
A |
6: 72,496,833 (GRCm39) |
P66S |
probably benign |
Het |
| Slc6a20b |
T |
A |
9: 123,427,563 (GRCm39) |
S449C |
probably damaging |
Het |
| Slc9a3 |
A |
T |
13: 74,312,406 (GRCm39) |
N668Y |
probably damaging |
Het |
| Sorcs2 |
T |
G |
5: 36,200,796 (GRCm39) |
K584T |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,079,350 (GRCm39) |
M8T |
probably benign |
Het |
| Styk1 |
G |
A |
6: 131,278,676 (GRCm39) |
P333S |
probably damaging |
Het |
| Sycp1 |
A |
G |
3: 102,786,116 (GRCm39) |
C589R |
possibly damaging |
Het |
| Tas2r123 |
A |
G |
6: 132,824,681 (GRCm39) |
I193V |
probably benign |
Het |
| Tnks1bp1 |
C |
A |
2: 84,892,970 (GRCm39) |
Q304K |
probably damaging |
Het |
| Traf3ip2 |
T |
C |
10: 39,502,473 (GRCm39) |
L207P |
probably damaging |
Het |
| Usp49 |
A |
G |
17: 47,984,146 (GRCm39) |
S384G |
possibly damaging |
Het |
| Vezt |
T |
C |
10: 93,856,486 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
C |
A |
7: 12,866,253 (GRCm39) |
M11I |
probably benign |
Het |
| Vmn2r39 |
A |
G |
7: 9,026,489 (GRCm39) |
V504A |
probably benign |
Het |
| Wapl |
G |
A |
14: 34,446,714 (GRCm39) |
A607T |
probably damaging |
Het |
| Zfp638 |
A |
G |
6: 83,906,438 (GRCm39) |
N201S |
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 |
|
R5061:Slco1a8
|
UTSW |
6 |
141,954,414 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- ACAGGGCAGTAGAAAACTCTTTAC -3'
(R):5'- CATGCTCTGTCACCAAGTGC -3'
Sequencing Primer
(F):5'- ACAACTTAGTTTTCAGTTCTCCATC -3'
(R):5'- TCTGTCACCAAGTGCTAGACATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation