Incidental Mutation 'R4975:Slco1a8'
| ID |
382571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a8
|
| Ensembl Gene |
ENSMUSG00000079263 |
| Gene Name |
solute carrier organic anion transporter family, member 1a8 |
| Synonyms |
Gm6614 |
| MMRRC Submission |
042570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4975 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141926599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 576
(S576G)
|
| 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: S576G
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: S576G
| 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 |
probably benign
Transcript: ENSMUST00000181628
AA Change: S596G
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: S596G
| 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: S576G
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: S576G
| 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: 96.5%
- 20x: 92.8%
|
| Validation Efficiency |
100% (81/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
C |
3: 59,840,161 (GRCm39) |
T78P |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,800,291 (GRCm39) |
K497R |
probably damaging |
Het |
| Aldh1a3 |
C |
T |
7: 66,068,927 (GRCm39) |
R19Q |
possibly damaging |
Het |
| Bmp2k |
A |
G |
5: 97,234,944 (GRCm39) |
|
probably benign |
Het |
| Ccni |
A |
T |
5: 93,335,553 (GRCm39) |
L195Q |
possibly damaging |
Het |
| Cdkl4 |
C |
A |
17: 80,832,764 (GRCm39) |
G327* |
probably null |
Het |
| Cdsn |
T |
C |
17: 35,866,326 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,518,736 (GRCm38) |
V240A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,943,540 (GRCm39) |
E352G |
possibly damaging |
Het |
| Clasp2 |
T |
A |
9: 113,732,984 (GRCm39) |
I961N |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,949,752 (GRCm39) |
Q128R |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,406,525 (GRCm39) |
Q1055H |
possibly damaging |
Het |
| Cyld |
T |
G |
8: 89,433,860 (GRCm39) |
F216L |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
| Disp3 |
C |
T |
4: 148,328,673 (GRCm39) |
R1097H |
possibly damaging |
Het |
| Dmap1 |
T |
C |
4: 117,538,233 (GRCm39) |
D67G |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Ergic3 |
T |
C |
2: 155,859,638 (GRCm39) |
|
probably null |
Het |
| Fkbp14 |
A |
G |
6: 54,569,943 (GRCm39) |
I29T |
probably benign |
Het |
| Gm4845 |
T |
A |
1: 141,184,623 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7135 |
A |
T |
1: 97,281,801 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbar1 |
TACCAC |
TAC |
1: 74,318,704 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,424,481 (GRCm39) |
I57F |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,809,280 (GRCm39) |
V1722A |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,283,037 (GRCm39) |
D1971G |
possibly damaging |
Het |
| Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,614,244 (GRCm39) |
I398N |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,226,390 (GRCm39) |
S922R |
probably damaging |
Het |
| Krt27 |
G |
A |
11: 99,237,722 (GRCm39) |
Q339* |
probably null |
Het |
| Lama1 |
C |
A |
17: 68,045,829 (GRCm39) |
L245I |
possibly damaging |
Het |
| Lmo2 |
T |
A |
2: 103,806,488 (GRCm39) |
C60* |
probably null |
Het |
| Med16 |
A |
G |
10: 79,738,839 (GRCm39) |
S316P |
possibly damaging |
Het |
| Mia3 |
T |
C |
1: 183,111,970 (GRCm39) |
N529S |
probably benign |
Het |
| Msi2 |
T |
C |
11: 88,285,481 (GRCm39) |
K188E |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,209,128 (GRCm39) |
K1870R |
probably damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,167,216 (GRCm39) |
V347A |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,120,167 (GRCm39) |
R487H |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,682 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or4k41 |
T |
C |
2: 111,280,028 (GRCm39) |
I181T |
probably benign |
Het |
| Or52h1 |
A |
T |
7: 103,828,736 (GRCm39) |
V293D |
probably damaging |
Het |
| Or5d18 |
T |
C |
2: 87,865,005 (GRCm39) |
I159M |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,087,141 (GRCm39) |
I246T |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,415 (GRCm39) |
V1708A |
probably benign |
Het |
| Ptprv |
A |
G |
1: 135,046,586 (GRCm39) |
|
noncoding transcript |
Het |
| Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
| Rab11fip4 |
A |
G |
11: 79,510,497 (GRCm39) |
R68G |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,277,428 (GRCm39) |
D264G |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,165,424 (GRCm39) |
S2045P |
probably damaging |
Het |
| Rgs22 |
A |
C |
15: 36,055,022 (GRCm39) |
Y593* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,285,954 (GRCm39) |
D87N |
probably damaging |
Het |
| Rps6ka4 |
A |
T |
19: 6,817,678 (GRCm39) |
|
probably null |
Het |
| Rttn |
T |
A |
18: 89,082,209 (GRCm39) |
|
probably null |
Het |
| Runx3 |
A |
G |
4: 134,898,446 (GRCm39) |
T206A |
probably benign |
Het |
| Setx |
A |
G |
2: 29,054,562 (GRCm39) |
E2158G |
probably damaging |
Het |
| Siglece |
C |
T |
7: 43,308,396 (GRCm39) |
|
probably null |
Het |
| Snx1 |
A |
T |
9: 66,012,187 (GRCm39) |
L96* |
probably null |
Het |
| Srrm1 |
A |
G |
4: 135,074,031 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
A |
T |
2: 68,051,336 (GRCm39) |
|
probably benign |
Het |
| Sun3 |
G |
A |
11: 8,988,311 (GRCm39) |
R4* |
probably null |
Het |
| Svil |
A |
G |
18: 5,054,025 (GRCm39) |
K347E |
possibly damaging |
Het |
| Sybu |
T |
A |
15: 44,541,063 (GRCm39) |
E333V |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,192,520 (GRCm39) |
|
probably benign |
Het |
| Tfip11 |
G |
T |
5: 112,483,613 (GRCm39) |
|
probably benign |
Het |
| Tmc1 |
A |
C |
19: 20,884,319 (GRCm39) |
D40E |
probably damaging |
Het |
| Twf2 |
G |
T |
9: 106,089,539 (GRCm39) |
G121W |
probably damaging |
Het |
| Vpreb3 |
A |
G |
10: 75,775,636 (GRCm39) |
V50A |
probably damaging |
Het |
| Vps8 |
T |
A |
16: 21,285,219 (GRCm39) |
L400Q |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,266,565 (GRCm39) |
Y861F |
probably damaging |
Het |
| Zfp608 |
T |
G |
18: 55,022,962 (GRCm39) |
T1485P |
probably damaging |
Het |
| Zfp619 |
T |
G |
7: 39,186,504 (GRCm39) |
S845A |
possibly damaging |
Het |
| Zscan4d |
A |
T |
7: 10,899,274 (GRCm39) |
M1K |
probably null |
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 |
|
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'- CGCACAGCTTTCATTTGTTGTG -3'
Sequencing Primer
(F):5'- CTTTATATGAAAGGGGATGCCTCAG -3'
(R):5'- TTTCCTAAAAGTAAGCTGTGAGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation