Incidental Mutation 'R8511:Slco3a1'
| ID |
655871 |
| 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 |
067888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R8511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73952990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 523
(V523A)
|
| 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: V523A
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: V523A
| 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: V523A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: V523A
| 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: V523A
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: V523A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
T |
C |
11: 11,540,056 (GRCm39) |
H186R |
unknown |
Het |
| 6430548M08Rik |
A |
G |
8: 120,879,301 (GRCm39) |
N233S |
probably benign |
Het |
| Acan |
A |
G |
7: 78,747,683 (GRCm39) |
D818G |
possibly damaging |
Het |
| Adam22 |
G |
A |
5: 8,184,558 (GRCm39) |
T478I |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,490,897 (GRCm39) |
M481V |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,294,396 (GRCm39) |
*115R |
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,719 (GRCm39) |
K3668E |
unknown |
Het |
| Aldh6a1 |
G |
A |
12: 84,480,745 (GRCm39) |
T430I |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,626,468 (GRCm39) |
D17G |
|
Het |
| Apol10b |
T |
C |
15: 77,469,211 (GRCm39) |
E322G |
probably benign |
Het |
| Apol10b |
C |
G |
15: 77,469,210 (GRCm39) |
E322D |
probably benign |
Het |
| Apol8 |
C |
T |
15: 77,634,273 (GRCm39) |
G101E |
probably benign |
Het |
| Arhgef26 |
A |
T |
3: 62,336,350 (GRCm39) |
M630L |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,385,046 (GRCm39) |
L230P |
probably damaging |
Het |
| Atg101 |
T |
C |
15: 101,188,503 (GRCm39) |
S203P |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,732,158 (GRCm39) |
T1996S |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,233,165 (GRCm39) |
K1869R |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,724,910 (GRCm39) |
I1233F |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,445,492 (GRCm39) |
L1770I |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,791,969 (GRCm39) |
N67S |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,262,692 (GRCm39) |
N626S |
|
Het |
| Cuedc2 |
C |
A |
19: 46,319,358 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
A |
T |
7: 130,703,742 (GRCm39) |
N1275Y |
unknown |
Het |
| Dnm3 |
A |
G |
1: 162,113,611 (GRCm39) |
V483A |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,864,801 (GRCm39) |
H718Q |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,918,847 (GRCm39) |
D50G |
probably damaging |
Het |
| Egfr |
T |
G |
11: 16,846,949 (GRCm39) |
I782S |
probably damaging |
Het |
| Elmod1 |
A |
T |
9: 53,820,095 (GRCm39) |
F298I |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,358,428 (GRCm39) |
Q364R |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,200,063 (GRCm39) |
S1004C |
probably damaging |
Het |
| Fga |
A |
T |
3: 82,939,064 (GRCm39) |
K480* |
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,265,994 (GRCm39) |
T1561A |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,431,868 (GRCm39) |
Y200* |
probably null |
Het |
| Foxj2 |
C |
T |
6: 122,808,404 (GRCm39) |
R115* |
probably null |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gpsm2 |
A |
G |
3: 108,589,399 (GRCm39) |
S580P |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,834,654 (GRCm39) |
S870P |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,075,874 (GRCm39) |
N234K |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,754,726 (GRCm39) |
F15L |
probably benign |
Het |
| Immp1l |
G |
A |
2: 105,761,100 (GRCm39) |
R3H |
probably benign |
Het |
| Iqca1l |
T |
A |
5: 24,750,906 (GRCm39) |
H559L |
possibly damaging |
Het |
| Jak3 |
T |
A |
8: 72,138,194 (GRCm39) |
Y882N |
probably damaging |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Luzp1 |
A |
G |
4: 136,268,650 (GRCm39) |
D291G |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,775,155 (GRCm39) |
E61K |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 121,015,513 (GRCm39) |
I175T |
possibly damaging |
Het |
| Nectin3 |
G |
A |
16: 46,284,363 (GRCm39) |
P107L |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,455 (GRCm39) |
V204A |
probably benign |
Het |
| Pira1 |
A |
G |
7: 3,742,347 (GRCm39) |
L60P |
probably damaging |
Het |
| Polr1a |
C |
A |
6: 71,897,504 (GRCm39) |
H207N |
probably benign |
Het |
| Prokr2 |
A |
G |
2: 132,223,422 (GRCm39) |
V40A |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,798,156 (GRCm39) |
|
probably null |
Het |
| Ptprs |
G |
A |
17: 56,754,440 (GRCm39) |
T200I |
probably damaging |
Het |
| Ramp3 |
C |
T |
11: 6,626,709 (GRCm39) |
R139C |
probably benign |
Het |
| Scfd2 |
A |
G |
5: 74,372,949 (GRCm39) |
V642A |
possibly damaging |
Het |
| Scn11a |
T |
C |
9: 119,618,981 (GRCm39) |
K787R |
probably damaging |
Het |
| Smo |
A |
G |
6: 29,755,531 (GRCm39) |
Y401C |
probably damaging |
Het |
| Stmn2 |
A |
G |
3: 8,574,615 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
G |
T |
4: 45,885,347 (GRCm39) |
G605V |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,055,647 (GRCm39) |
I4170V |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,924,141 (GRCm39) |
I594F |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,423,830 (GRCm39) |
L648P |
probably damaging |
Het |
| Tmprss2 |
G |
T |
16: 97,369,662 (GRCm39) |
L371I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,579,866 (GRCm39) |
R23676G |
probably damaging |
Het |
| Tvp23b |
T |
C |
11: 62,774,563 (GRCm39) |
I69T |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,614,443 (GRCm39) |
D721V |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,445,108 (GRCm39) |
V1717E |
unknown |
Het |
| Zmiz2 |
C |
T |
11: 6,353,190 (GRCm39) |
H658Y |
probably 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 |
|
R8192:Slco3a1
|
UTSW |
7 |
73,970,338 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8279:Slco3a1
|
UTSW |
7 |
73,934,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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'- AGACTCACACAGCTCCGATG -3'
(R):5'- CTCGTTTATTCAGGCCCAATTAATG -3'
Sequencing Primer
(F):5'- CTGCCAAAATGTGCCAGGTG -3'
(R):5'- GGAATGCCACAGAATGTATAATTAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation