Incidental Mutation 'R7798:Slco3a1'
| ID |
600360 |
| 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 |
045648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R7798 (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 73968344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 459
(S459P)
|
| 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: S459P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: S459P
| 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: S459P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: S459P
| 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: S459P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: S459P
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
A |
15: 79,019,932 (GRCm39) |
N128I |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,664 (GRCm39) |
T1176A |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,029,005 (GRCm39) |
V851A |
probably benign |
Het |
| Abcc6 |
C |
A |
7: 45,626,277 (GRCm39) |
E1494* |
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,106,952 (GRCm39) |
V56E |
probably damaging |
Het |
| Adamts15 |
G |
A |
9: 30,815,939 (GRCm39) |
T639M |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,745,370 (GRCm39) |
S608P |
possibly damaging |
Het |
| Arhgap11a |
A |
C |
2: 113,673,680 (GRCm39) |
V70G |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,249 (GRCm39) |
D113E |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,969,035 (GRCm39) |
Y227C |
probably damaging |
Het |
| Camk2b |
A |
G |
11: 5,928,399 (GRCm39) |
S447P |
probably benign |
Het |
| Ccdc88a |
C |
A |
11: 29,427,348 (GRCm39) |
Q1018K |
probably benign |
Het |
| Cdhr17 |
T |
C |
5: 17,061,656 (GRCm39) |
F801L |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,507,079 (GRCm39) |
V180D |
|
Het |
| Clca3a1 |
T |
A |
3: 144,463,723 (GRCm39) |
T185S |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,533,891 (GRCm39) |
S495G |
probably damaging |
Het |
| Cyb5r2 |
A |
T |
7: 107,353,155 (GRCm39) |
Y96N |
possibly damaging |
Het |
| Cyp21a1 |
T |
C |
17: 35,023,295 (GRCm39) |
K27E |
probably benign |
Het |
| Cyp2ab1 |
T |
C |
16: 20,131,166 (GRCm39) |
E321G |
probably benign |
Het |
| Des |
T |
C |
1: 75,339,003 (GRCm39) |
I228T |
probably damaging |
Het |
| Dis3l |
G |
T |
9: 64,248,299 (GRCm39) |
P39T |
probably benign |
Het |
| Disp2 |
A |
C |
2: 118,622,360 (GRCm39) |
I1031L |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,786,757 (GRCm39) |
|
probably null |
Het |
| Fgf23 |
A |
T |
6: 127,050,177 (GRCm39) |
D62V |
probably damaging |
Het |
| Galnt15 |
C |
T |
14: 31,751,862 (GRCm39) |
T138I |
possibly damaging |
Het |
| Ggt6 |
A |
T |
11: 72,326,367 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
A |
14: 118,391,098 (GRCm39) |
V209D |
probably damaging |
Het |
| Gzma |
A |
T |
13: 113,232,858 (GRCm39) |
F78Y |
probably benign |
Het |
| Igkv8-30 |
A |
T |
6: 70,094,355 (GRCm39) |
C19S |
probably benign |
Het |
| Il1r1 |
G |
A |
1: 40,349,526 (GRCm39) |
V361I |
probably benign |
Het |
| Intu |
T |
C |
3: 40,646,359 (GRCm39) |
V598A |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,287,513 (GRCm39) |
F471L |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,924,357 (GRCm39) |
V1081E |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,957,180 (GRCm39) |
V2163E |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,271,893 (GRCm39) |
K6552E |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,956,315 (GRCm39) |
H842R |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,116,497 (GRCm39) |
T10A |
possibly damaging |
Het |
| Muc21 |
C |
G |
17: 35,932,146 (GRCm39) |
G680A |
unknown |
Het |
| Muc5ac |
T |
C |
7: 141,347,778 (GRCm39) |
|
probably null |
Het |
| Nrk |
CGCAGCAGCAGCAGCAGCAGC |
CGCAGCAGCAGCAGCAGC |
X: 137,883,426 (GRCm39) |
|
probably benign |
Het |
| Nsun4 |
T |
G |
4: 115,908,371 (GRCm39) |
S730R |
possibly damaging |
Het |
| Or12e1 |
A |
T |
2: 87,022,636 (GRCm39) |
I202L |
probably benign |
Het |
| Or12k7 |
A |
T |
2: 36,959,186 (GRCm39) |
S290C |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,750,348 (GRCm39) |
E4G |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,617 (GRCm39) |
F305L |
probably benign |
Het |
| Or4k15 |
A |
T |
14: 50,364,895 (GRCm39) |
Y287F |
probably damaging |
Het |
| Padi3 |
C |
T |
4: 140,513,750 (GRCm39) |
E653K |
probably benign |
Het |
| Pde4a |
A |
G |
9: 21,109,959 (GRCm39) |
E280G |
possibly damaging |
Het |
| Phactr3 |
G |
A |
2: 177,925,703 (GRCm39) |
R326H |
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,786,397 (GRCm39) |
P619L |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,167,224 (GRCm39) |
R368W |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,116,293 (GRCm39) |
T240A |
probably benign |
Het |
| Rpa1 |
A |
T |
11: 75,203,635 (GRCm39) |
Y356N |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,252,579 (GRCm39) |
D165E |
probably damaging |
Het |
| Sco1 |
A |
G |
11: 66,944,628 (GRCm39) |
T84A |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,804,531 (GRCm39) |
I380V |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,771,162 (GRCm39) |
S1503R |
possibly damaging |
Het |
| Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
| Spty2d1 |
G |
A |
7: 46,645,804 (GRCm39) |
S613F |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,793,776 (GRCm39) |
Y440N |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 85,916,117 (GRCm39) |
Y290H |
probably damaging |
Het |
| Tex15 |
C |
T |
8: 34,071,875 (GRCm39) |
S2474F |
possibly damaging |
Het |
| Tgtp1 |
A |
G |
11: 48,878,159 (GRCm39) |
F182S |
probably benign |
Het |
| Tmcc1 |
A |
T |
6: 116,020,539 (GRCm39) |
S304R |
|
Het |
| Tmem130 |
T |
G |
5: 144,680,580 (GRCm39) |
K275Q |
probably damaging |
Het |
| Tmem9 |
C |
A |
1: 135,961,927 (GRCm39) |
T174K |
probably damaging |
Het |
| Ttyh3 |
C |
T |
5: 140,620,538 (GRCm39) |
R233Q |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,963,389 (GRCm39) |
M323K |
possibly damaging |
Het |
| Twnk |
T |
C |
19: 44,996,107 (GRCm39) |
M180T |
probably benign |
Het |
| Ube4a |
A |
G |
9: 44,844,629 (GRCm39) |
V874A |
probably damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,475,582 (GRCm39) |
N350S |
probably damaging |
Het |
| Vegfa |
C |
T |
17: 46,342,761 (GRCm39) |
G19D |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,041,518 (GRCm39) |
C399F |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,530 (GRCm39) |
P385T |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,192 (GRCm39) |
F164S |
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 |
|
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 |
|
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'- AAAAGACGGTACTGTCCACC -3'
(R):5'- GGATACAGACTAGGCTCTCAGC -3'
Sequencing Primer
(F):5'- TTGACAGGCCTGTGAGCAC -3'
(R):5'- TCTCAGCAATGGCCCTGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation