Incidental Mutation 'R8192:Slco3a1'
| ID |
635220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco3a1
|
| Ensembl Gene |
ENSMUSG00000025790 |
| Gene Name |
solute carrier organic anion transporter family, member 3a1 |
| Synonyms |
OATP-D, Slc21a11, 5830414C08Rik, Anr1, MJAM |
| MMRRC Submission |
067615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R8192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73970338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 423
(M423K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
[ENSMUST00000107453]
|
| AlphaFold |
Q8R3L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026897
AA Change: M423K
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: M423K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
44 |
455 |
1.2e-27 |
PFAM |
|
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
|
low complexity region
|
574 |
594 |
N/A |
INTRINSIC |
|
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098371
AA Change: M423K
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: M423K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
44 |
456 |
1.2e-27 |
PFAM |
|
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
|
low complexity region
|
574 |
594 |
N/A |
INTRINSIC |
|
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107453
AA Change: M423K
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: M423K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
45 |
456 |
2e-27 |
PFAM |
|
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
|
low complexity region
|
574 |
589 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,103,970 (GRCm39) |
D558E |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,241,736 (GRCm39) |
E48D |
probably benign |
Het |
| Alyref |
T |
C |
11: 120,488,522 (GRCm39) |
E102G |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,562,294 (GRCm39) |
S254G |
probably benign |
Het |
| Bcl2l13 |
A |
G |
6: 120,853,267 (GRCm39) |
E184G |
possibly damaging |
Het |
| Best1 |
T |
A |
19: 9,963,664 (GRCm39) |
I506F |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,453,727 (GRCm39) |
D388V |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,816,529 (GRCm39) |
K329E |
possibly damaging |
Het |
| Clasrp |
T |
C |
7: 19,329,387 (GRCm39) |
N65S |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,199,745 (GRCm39) |
R1301G |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,273 (GRCm39) |
E624G |
probably benign |
Het |
| Cyp21a1 |
A |
T |
17: 35,022,633 (GRCm39) |
Y109N |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,134 (GRCm39) |
S359P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,431,002 (GRCm39) |
T846A |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,976,181 (GRCm39) |
V2746A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,428,036 (GRCm39) |
A221T |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,623,166 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,362,023 (GRCm39) |
I119V |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,399,255 (GRCm39) |
T120A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,332,145 (GRCm39) |
H397R |
probably benign |
Het |
| Gaa |
G |
T |
11: 119,161,235 (GRCm39) |
A93S |
possibly damaging |
Het |
| Galnt4 |
G |
A |
10: 98,945,118 (GRCm39) |
R281H |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,291 (GRCm39) |
E29G |
unknown |
Het |
| H13 |
T |
G |
2: 152,511,522 (GRCm39) |
D7E |
probably benign |
Het |
| H60c |
T |
A |
10: 3,209,781 (GRCm39) |
I140F |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,620,908 (GRCm39) |
N49S |
probably benign |
Het |
| Klhl11 |
G |
T |
11: 100,354,922 (GRCm39) |
P300T |
probably benign |
Het |
| Knop1 |
C |
A |
7: 118,452,369 (GRCm39) |
V117L |
|
Het |
| Lgalsl2 |
T |
A |
7: 5,362,595 (GRCm39) |
D75E |
possibly damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,334,390 (GRCm39) |
S4456P |
probably damaging |
Het |
| Mkrn1 |
A |
T |
6: 39,376,289 (GRCm39) |
V439D |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,305,215 (GRCm39) |
V612D |
|
Het |
| Nrxn3 |
A |
G |
12: 90,171,569 (GRCm39) |
N967D |
probably benign |
Het |
| Oprm1 |
C |
T |
10: 6,788,417 (GRCm39) |
P391S |
probably benign |
Het |
| Or10g7 |
T |
A |
9: 39,905,467 (GRCm39) |
D120E |
probably damaging |
Het |
| Or5d43 |
A |
C |
2: 88,105,288 (GRCm39) |
V35G |
probably damaging |
Het |
| Parp14 |
T |
A |
16: 35,691,584 (GRCm39) |
E47V |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,285,554 (GRCm39) |
E931G |
possibly damaging |
Het |
| Plcz1 |
A |
T |
6: 139,968,986 (GRCm39) |
C151S |
probably damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,578,109 (GRCm39) |
W123* |
probably null |
Het |
| Rbm26 |
A |
G |
14: 105,380,125 (GRCm39) |
|
probably null |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Sc5d |
T |
C |
9: 42,171,094 (GRCm39) |
I32V |
probably benign |
Het |
| Scube1 |
A |
G |
15: 83,513,583 (GRCm39) |
|
probably null |
Het |
| Shld2 |
A |
T |
14: 33,967,173 (GRCm39) |
S680T |
probably benign |
Het |
| Slc12a6 |
A |
G |
2: 112,181,722 (GRCm39) |
Y714C |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,518,541 (GRCm39) |
I670V |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,246,455 (GRCm39) |
V866D |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,349,336 (GRCm39) |
E773G |
probably benign |
Het |
| Son |
A |
G |
16: 91,452,437 (GRCm39) |
T395A |
possibly damaging |
Het |
| Ss18l1 |
T |
C |
2: 179,701,155 (GRCm39) |
S290P |
probably damaging |
Het |
| Tcof1 |
A |
C |
18: 60,976,375 (GRCm39) |
V78G |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,733,918 (GRCm39) |
V322M |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,253,811 (GRCm39) |
C753* |
probably null |
Het |
| Trav6n-6 |
T |
A |
14: 53,370,497 (GRCm39) |
F83I |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,007 (GRCm39) |
H222R |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,793,294 (GRCm39) |
L288P |
probably benign |
Het |
| Zfp442 |
T |
C |
2: 150,250,629 (GRCm39) |
I424M |
unknown |
Het |
| Zfp580 |
T |
C |
7: 5,056,114 (GRCm39) |
V100A |
probably benign |
Het |
| Zfpm1 |
C |
A |
8: 123,058,833 (GRCm39) |
P151Q |
probably damaging |
Het |
| Zfr2 |
C |
T |
10: 81,078,649 (GRCm39) |
P294S |
possibly damaging |
Het |
|
| Other mutations in Slco3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Slco3a1
|
APN |
7 |
74,153,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01124:Slco3a1
|
APN |
7 |
73,934,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Slco3a1
|
APN |
7 |
73,934,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01929:Slco3a1
|
APN |
7 |
73,968,353 (GRCm39) |
splice site |
probably benign |
|
|
IGL01991:Slco3a1
|
APN |
7 |
73,934,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02380:Slco3a1
|
APN |
7 |
74,204,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03269:Slco3a1
|
APN |
7 |
73,968,280 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0052:Slco3a1
|
UTSW |
7 |
74,154,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0052:Slco3a1
|
UTSW |
7 |
74,154,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0317:Slco3a1
|
UTSW |
7 |
74,154,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Slco3a1
|
UTSW |
7 |
73,970,301 (GRCm39) |
nonsense |
probably null |
|
|
R0613:Slco3a1
|
UTSW |
7 |
73,996,382 (GRCm39) |
unclassified |
probably benign |
|
|
R1488:Slco3a1
|
UTSW |
7 |
73,996,449 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1506:Slco3a1
|
UTSW |
7 |
74,009,683 (GRCm39) |
splice site |
probably null |
|
|
R1571:Slco3a1
|
UTSW |
7 |
74,154,128 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1912:Slco3a1
|
UTSW |
7 |
74,154,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Slco3a1
|
UTSW |
7 |
73,996,419 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2382:Slco3a1
|
UTSW |
7 |
73,996,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3735:Slco3a1
|
UTSW |
7 |
74,154,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Slco3a1
|
UTSW |
7 |
73,934,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4151:Slco3a1
|
UTSW |
7 |
74,009,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Slco3a1
|
UTSW |
7 |
73,968,302 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4303:Slco3a1
|
UTSW |
7 |
74,204,276 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4462:Slco3a1
|
UTSW |
7 |
74,204,311 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4702:Slco3a1
|
UTSW |
7 |
73,970,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4896:Slco3a1
|
UTSW |
7 |
73,970,304 (GRCm39) |
missense |
probably null |
1.00 |
|
R5419:Slco3a1
|
UTSW |
7 |
73,934,363 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5561:Slco3a1
|
UTSW |
7 |
73,968,247 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5597:Slco3a1
|
UTSW |
7 |
73,934,210 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5698:Slco3a1
|
UTSW |
7 |
73,996,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Slco3a1
|
UTSW |
7 |
73,968,338 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6117:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6118:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6123:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6124:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6125:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7147:Slco3a1
|
UTSW |
7 |
74,154,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Slco3a1
|
UTSW |
7 |
73,968,232 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7335:Slco3a1
|
UTSW |
7 |
73,934,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7646:Slco3a1
|
UTSW |
7 |
74,154,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Slco3a1
|
UTSW |
7 |
73,968,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8024:Slco3a1
|
UTSW |
7 |
74,204,218 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8128:Slco3a1
|
UTSW |
7 |
73,934,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8184:Slco3a1
|
UTSW |
7 |
74,009,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8279:Slco3a1
|
UTSW |
7 |
73,934,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8511:Slco3a1
|
UTSW |
7 |
73,952,990 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8732:Slco3a1
|
UTSW |
7 |
73,934,054 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8933:Slco3a1
|
UTSW |
7 |
73,934,248 (GRCm39) |
nonsense |
probably null |
|
|
R8987:Slco3a1
|
UTSW |
7 |
73,970,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9138:Slco3a1
|
UTSW |
7 |
74,009,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Slco3a1
|
UTSW |
7 |
73,952,946 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9268:Slco3a1
|
UTSW |
7 |
73,952,946 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9310:Slco3a1
|
UTSW |
7 |
74,204,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9342:Slco3a1
|
UTSW |
7 |
74,154,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Slco3a1
|
UTSW |
7 |
73,934,153 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9422:Slco3a1
|
UTSW |
7 |
73,946,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9556:Slco3a1
|
UTSW |
7 |
74,201,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9560:Slco3a1
|
UTSW |
7 |
74,153,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Slco3a1
|
UTSW |
7 |
73,952,957 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
X0017:Slco3a1
|
UTSW |
7 |
73,934,108 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Slco3a1
|
UTSW |
7 |
73,925,762 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACTAGAGACCAGGTTGGC -3'
(R):5'- TCACATGAAGACACAGGGC -3'
Sequencing Primer
(F):5'- ACTAGAGACCAGGTTGGCTCTATTAG -3'
(R):5'- TGAAGACACAGGGCCCACTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation