Incidental Mutation 'R2163:Slco1a8'
ID |
235278 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a8
|
Ensembl Gene |
ENSMUSG00000079263 |
Gene Name |
solute carrier organic anion transporter family, member 1a8 |
Synonyms |
Gm6614 |
MMRRC Submission |
040166-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R2163 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 141926664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 554
(T554I)
|
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: T554I
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107463 Gene: ENSMUSG00000079263 AA Change: T554I
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 |
possibly damaging
Transcript: ENSMUST00000181628
AA Change: T574I
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137967 Gene: ENSMUSG00000079263 AA Change: T574I
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: T554I
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137696 Gene: ENSMUSG00000079263 AA Change: T554I
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 |
0.7449 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
97% (76/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I07Rik |
C |
A |
14: 67,175,997 (GRCm39) |
T64K |
unknown |
Het |
Ablim2 |
T |
C |
5: 35,959,697 (GRCm39) |
|
probably benign |
Het |
Acp4 |
T |
C |
7: 43,905,400 (GRCm39) |
D107G |
probably damaging |
Het |
Adamts2 |
T |
A |
11: 50,679,632 (GRCm39) |
C871S |
probably benign |
Het |
Adamts3 |
A |
G |
5: 89,856,577 (GRCm39) |
V332A |
probably damaging |
Het |
Alkal1 |
C |
T |
1: 6,459,736 (GRCm39) |
T104M |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,329,720 (GRCm39) |
S192G |
probably damaging |
Het |
Axdnd1 |
A |
C |
1: 156,219,573 (GRCm39) |
V337G |
probably damaging |
Het |
Baiap2l2 |
T |
C |
15: 79,143,395 (GRCm39) |
D481G |
possibly damaging |
Het |
Cacna2d1 |
C |
T |
5: 16,567,317 (GRCm39) |
T964I |
probably damaging |
Het |
Carf |
T |
C |
1: 60,186,645 (GRCm39) |
|
probably benign |
Het |
Catsper2 |
T |
C |
2: 121,230,656 (GRCm39) |
D295G |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,375,713 (GRCm39) |
T84A |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,436,275 (GRCm39) |
H2508L |
possibly damaging |
Het |
Chl1 |
A |
T |
6: 103,688,192 (GRCm39) |
T284S |
probably damaging |
Het |
Chtop |
A |
T |
3: 90,409,518 (GRCm39) |
M125K |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,308,041 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,232,735 (GRCm39) |
|
probably null |
Het |
Cyp2b10 |
A |
T |
7: 25,624,810 (GRCm39) |
|
probably benign |
Het |
Cyp2c70 |
G |
A |
19: 40,149,163 (GRCm39) |
H328Y |
possibly damaging |
Het |
Dcbld1 |
A |
G |
10: 52,162,452 (GRCm39) |
T77A |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,066,729 (GRCm39) |
|
probably null |
Het |
Efhd1 |
A |
T |
1: 87,217,195 (GRCm39) |
D104V |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,087,875 (GRCm39) |
D957V |
probably benign |
Het |
Eps15 |
T |
A |
4: 109,227,866 (GRCm39) |
S549R |
probably damaging |
Het |
Fbxo3 |
C |
A |
2: 103,885,330 (GRCm39) |
H400N |
probably benign |
Het |
Fcer1a |
A |
G |
1: 173,050,264 (GRCm39) |
V86A |
probably damaging |
Het |
Fh1 |
A |
G |
1: 175,442,406 (GRCm39) |
M148T |
possibly damaging |
Het |
Foxc1 |
C |
A |
13: 31,992,586 (GRCm39) |
H466N |
unknown |
Het |
Gadl1 |
T |
A |
9: 115,778,626 (GRCm39) |
I180N |
possibly damaging |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Gm21718 |
T |
C |
14: 51,555,223 (GRCm39) |
|
noncoding transcript |
Het |
Hivep2 |
T |
A |
10: 14,003,970 (GRCm39) |
Y189* |
probably null |
Het |
Hoxd13 |
T |
A |
2: 74,499,413 (GRCm39) |
S254T |
possibly damaging |
Het |
Hspd1 |
A |
G |
1: 55,117,697 (GRCm39) |
|
probably benign |
Het |
Il1r1 |
A |
G |
1: 40,334,023 (GRCm39) |
M198V |
probably benign |
Het |
Katnal1 |
T |
A |
5: 148,825,746 (GRCm39) |
I362F |
probably damaging |
Het |
Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
Mybpc1 |
T |
C |
10: 88,376,804 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,407,291 (GRCm39) |
|
probably null |
Het |
Nell2 |
G |
T |
15: 95,327,859 (GRCm39) |
N301K |
probably damaging |
Het |
Nenf |
T |
A |
1: 191,042,132 (GRCm39) |
D108V |
probably damaging |
Het |
Nfkbiz |
T |
C |
16: 55,638,581 (GRCm39) |
N293S |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,366,403 (GRCm39) |
K1229E |
probably damaging |
Het |
Nlrp4a |
T |
C |
7: 26,152,822 (GRCm39) |
F631L |
probably benign |
Het |
Nrp1 |
T |
A |
8: 129,224,352 (GRCm39) |
V705E |
probably damaging |
Het |
Nsf |
G |
C |
11: 103,754,159 (GRCm39) |
A459G |
possibly damaging |
Het |
Or1af1 |
A |
G |
2: 37,110,089 (GRCm39) |
E196G |
probably damaging |
Het |
Or5w10 |
A |
G |
2: 87,375,238 (GRCm39) |
S217P |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,775,341 (GRCm39) |
D490N |
possibly damaging |
Het |
Pinlyp |
T |
A |
7: 24,241,226 (GRCm39) |
Y192F |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,603,543 (GRCm39) |
|
probably benign |
Het |
Ppara |
A |
G |
15: 85,685,247 (GRCm39) |
K399E |
probably benign |
Het |
Ppp4r2 |
C |
A |
6: 100,842,047 (GRCm39) |
N169K |
probably damaging |
Het |
Prom1 |
T |
A |
5: 44,171,505 (GRCm39) |
E632V |
possibly damaging |
Het |
Rpap3 |
T |
A |
15: 97,578,229 (GRCm39) |
Y562F |
possibly damaging |
Het |
Rsph14 |
T |
A |
10: 74,793,611 (GRCm39) |
K263N |
probably damaging |
Het |
Sanbr |
T |
C |
11: 23,526,826 (GRCm39) |
|
probably benign |
Het |
Scn11a |
T |
G |
9: 119,584,091 (GRCm39) |
D1508A |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,506,300 (GRCm39) |
T1530A |
probably damaging |
Het |
Sec14l1 |
T |
A |
11: 117,034,108 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
A |
G |
5: 89,362,435 (GRCm39) |
I840V |
probably damaging |
Het |
Slco1c1 |
T |
A |
6: 141,505,478 (GRCm39) |
V419D |
probably benign |
Het |
Sltm |
T |
A |
9: 70,498,964 (GRCm39) |
F1013I |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,846 (GRCm39) |
K266E |
probably benign |
Het |
Syt15 |
A |
G |
14: 33,948,073 (GRCm39) |
E306G |
probably benign |
Het |
Tap1 |
A |
T |
17: 34,408,447 (GRCm39) |
|
probably null |
Het |
Tbc1d16 |
G |
C |
11: 119,045,904 (GRCm39) |
|
probably benign |
Het |
Tex47 |
T |
C |
5: 7,355,022 (GRCm39) |
Y68H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,642,845 (GRCm39) |
T13264A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubxn2a |
A |
T |
12: 4,935,757 (GRCm39) |
F131Y |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,923,580 (GRCm39) |
|
probably benign |
Het |
Vmn1r170 |
T |
C |
7: 23,306,462 (GRCm39) |
L288P |
probably damaging |
Het |
Vmn1r175 |
A |
G |
7: 23,508,352 (GRCm39) |
Y92H |
probably benign |
Het |
Wdpcp |
G |
T |
11: 21,835,015 (GRCm39) |
E673* |
probably null |
Het |
Zfr |
T |
A |
15: 12,162,309 (GRCm39) |
L820I |
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 |
|
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 |
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'- CTCAAGACAAGGCTTTATATGAAAGGG -3'
(R):5'- TACGCACAGCTTTCATTTGTTGTG -3'
Sequencing Primer
(F):5'- CTTTATATGAAAGGGGATGCCTCAG -3'
(R):5'- TTTCCTAAAAGTAAGCTGTGAGC -3'
|
Posted On |
2014-10-01 |