Incidental Mutation 'R5597:Slco3a1'
ID |
437876 |
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 |
043149-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R5597 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 73934210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 654
(R654L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
|
AlphaFold |
Q8R3L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026897
AA Change: R654L
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000026897 Gene: ENSMUSG00000025790 AA Change: R654L
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: R654L
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000095973 Gene: ENSMUSG00000025790 AA Change: R654L
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 |
|
Meta Mutation Damage Score |
0.0654 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
A |
11: 109,927,363 (GRCm39) |
T1330I |
probably damaging |
Het |
Aebp1 |
T |
C |
11: 5,816,487 (GRCm39) |
V322A |
probably benign |
Het |
Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
Bsn |
A |
T |
9: 107,992,131 (GRCm39) |
M1207K |
probably benign |
Het |
Btla |
A |
G |
16: 45,064,599 (GRCm39) |
T183A |
probably benign |
Het |
Cdca8 |
G |
A |
4: 124,812,793 (GRCm39) |
R286W |
probably damaging |
Het |
Cnot6l |
T |
C |
5: 96,278,978 (GRCm39) |
D80G |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,952,097 (GRCm39) |
D93G |
probably damaging |
Het |
Ctsk |
T |
C |
3: 95,409,007 (GRCm39) |
V130A |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,813,591 (GRCm39) |
E2294G |
possibly damaging |
Het |
Dcaf5 |
G |
T |
12: 80,386,817 (GRCm39) |
S436R |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,573,611 (GRCm39) |
L1792H |
probably benign |
Het |
Dst |
T |
C |
1: 34,231,794 (GRCm39) |
V3307A |
probably benign |
Het |
Frrs1 |
C |
T |
3: 116,671,887 (GRCm39) |
|
probably benign |
Het |
Gimap4 |
T |
C |
6: 48,667,698 (GRCm39) |
L151P |
probably damaging |
Het |
Hook2 |
A |
G |
8: 85,720,657 (GRCm39) |
N166S |
probably benign |
Het |
Hp1bp3 |
A |
T |
4: 137,948,939 (GRCm39) |
M1L |
possibly damaging |
Het |
Igkv4-56 |
T |
A |
6: 69,564,467 (GRCm39) |
|
noncoding transcript |
Het |
Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,127,716 (GRCm39) |
C396R |
probably damaging |
Het |
Lars2 |
A |
T |
9: 123,284,047 (GRCm39) |
D745V |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,433,570 (GRCm39) |
|
probably benign |
Het |
Mapk4 |
T |
A |
18: 74,070,341 (GRCm39) |
Y184F |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
Msh2 |
T |
C |
17: 88,030,789 (GRCm39) |
S889P |
probably benign |
Het |
Nebl |
A |
G |
2: 17,382,978 (GRCm39) |
S100P |
probably benign |
Het |
Nudt7 |
A |
T |
8: 114,878,506 (GRCm39) |
H154L |
probably benign |
Het |
Olig2 |
A |
T |
16: 91,023,768 (GRCm39) |
M161L |
probably benign |
Het |
Or2ah1 |
T |
C |
2: 85,653,804 (GRCm39) |
L163P |
probably damaging |
Het |
Or5h24 |
A |
T |
16: 58,918,710 (GRCm39) |
V215D |
unknown |
Het |
Or6c214 |
T |
C |
10: 129,590,755 (GRCm39) |
D188G |
probably damaging |
Het |
Palmd |
T |
A |
3: 116,717,225 (GRCm39) |
D424V |
probably damaging |
Het |
Pdzk1ip1 |
A |
G |
4: 114,950,689 (GRCm39) |
N164D |
probably damaging |
Het |
Prkag1 |
A |
G |
15: 98,713,789 (GRCm39) |
S14P |
probably damaging |
Het |
Prss12 |
C |
T |
3: 123,258,389 (GRCm39) |
P161L |
probably benign |
Het |
Pwwp2a |
T |
C |
11: 43,573,422 (GRCm39) |
V168A |
probably benign |
Het |
Rassf7 |
A |
G |
7: 140,797,024 (GRCm39) |
D79G |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,542,082 (GRCm39) |
I19F |
probably damaging |
Het |
Slc30a10 |
C |
A |
1: 185,194,897 (GRCm39) |
H236Q |
probably damaging |
Het |
Smad4 |
A |
C |
18: 73,795,898 (GRCm39) |
F165L |
probably benign |
Het |
Swsap1 |
G |
T |
9: 21,867,242 (GRCm39) |
R62M |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,202,724 (GRCm39) |
M113K |
probably benign |
Het |
Tmem225 |
A |
G |
9: 40,060,726 (GRCm39) |
N95S |
possibly damaging |
Het |
Tnni3k |
A |
T |
3: 154,577,765 (GRCm39) |
L658H |
probably damaging |
Het |
Trem2 |
G |
A |
17: 48,658,840 (GRCm39) |
V202I |
probably benign |
Het |
Tyw1 |
C |
T |
5: 130,303,498 (GRCm39) |
L289F |
probably benign |
Het |
Vcam1 |
T |
A |
3: 115,919,651 (GRCm39) |
D205V |
probably damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,674,073 (GRCm39) |
D377G |
probably benign |
Het |
Yy1 |
A |
G |
12: 108,781,436 (GRCm39) |
D367G |
probably damaging |
Het |
Zfp11 |
A |
T |
5: 129,734,166 (GRCm39) |
C432S |
probably benign |
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 |
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 |
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'- AGTTCAGCCCTCCTGTAGTCAC -3'
(R):5'- ATGATCTCTTCCCTCTGACAGG -3'
Sequencing Primer
(F):5'- GCCCTCCTGTAGTCACTATAAAACAG -3'
(R):5'- TCTCATCTTCGGGGCCG -3'
|
Posted On |
2016-10-26 |