Incidental Mutation 'R9422:Slco3a1'
ID |
712379 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R9422 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 73946996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 576
(V576I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
[ENSMUST00000107453]
|
AlphaFold |
Q8R3L5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026897
AA Change: V576I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026897 Gene: ENSMUSG00000025790 AA Change: V576I
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 damaging
Transcript: ENSMUST00000098371
AA Change: V576I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095973 Gene: ENSMUSG00000025790 AA Change: V576I
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: V576I
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103077 Gene: ENSMUSG00000025790 AA Change: V576I
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
A |
16: 4,667,153 (GRCm39) |
V209I |
|
Het |
Adamts18 |
T |
A |
8: 114,501,910 (GRCm39) |
Y317F |
probably damaging |
Het |
Adgrg6 |
C |
T |
10: 14,302,740 (GRCm39) |
R863H |
probably damaging |
Het |
Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
Ank2 |
C |
A |
3: 126,890,505 (GRCm39) |
K55N |
unknown |
Het |
B3galnt2 |
A |
G |
13: 14,150,136 (GRCm39) |
T160A |
probably benign |
Het |
Becn1 |
C |
A |
11: 101,192,832 (GRCm39) |
|
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,764,444 (GRCm39) |
N777S |
possibly damaging |
Het |
Cd302 |
T |
C |
2: 60,082,697 (GRCm39) |
Y209C |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,699,851 (GRCm39) |
V63A |
probably benign |
Het |
Clasp1 |
T |
A |
1: 118,390,257 (GRCm39) |
I147N |
possibly damaging |
Het |
Cmtm3 |
A |
T |
8: 105,067,358 (GRCm39) |
|
probably benign |
Het |
Cmtm3 |
G |
T |
8: 105,067,359 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
A |
T |
4: 47,293,364 (GRCm39) |
|
probably null |
Het |
Csn3 |
A |
G |
5: 88,077,872 (GRCm39) |
N126S |
probably benign |
Het |
Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,170,691 (GRCm39) |
H729Q |
possibly damaging |
Het |
Dop1a |
C |
T |
9: 86,425,093 (GRCm39) |
H2138Y |
probably damaging |
Het |
Fbxo2 |
T |
C |
4: 148,248,616 (GRCm39) |
L36P |
unknown |
Het |
Gzmg |
T |
A |
14: 56,395,812 (GRCm39) |
Y49F |
probably benign |
Het |
H2bc3 |
A |
G |
13: 23,930,940 (GRCm39) |
I55V |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,313,213 (GRCm39) |
T1818A |
probably benign |
Het |
Ipmk |
T |
C |
10: 71,212,550 (GRCm39) |
S171P |
possibly damaging |
Het |
Milr1 |
T |
A |
11: 106,657,805 (GRCm39) |
Y239N |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,553,102 (GRCm39) |
N4397S |
probably benign |
Het |
Nell1 |
C |
A |
7: 49,712,387 (GRCm39) |
S69* |
probably null |
Het |
Nme8 |
A |
G |
13: 19,859,918 (GRCm39) |
V234A |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,054,668 (GRCm39) |
S2444G |
probably damaging |
Het |
Odad3 |
T |
A |
9: 21,913,628 (GRCm39) |
H48L |
possibly damaging |
Het |
Or5p75-ps1 |
A |
T |
7: 108,108,155 (GRCm39) |
K297N |
unknown |
Het |
Or7g35 |
T |
A |
9: 19,495,968 (GRCm39) |
I45K |
probably damaging |
Het |
Pex5l |
T |
C |
3: 33,136,401 (GRCm39) |
|
probably benign |
Het |
Pgm3 |
A |
T |
9: 86,443,938 (GRCm39) |
L322H |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,326,730 (GRCm39) |
F221L |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,382,982 (GRCm39) |
K79M |
probably damaging |
Het |
Prkaa2 |
A |
G |
4: 104,909,195 (GRCm39) |
I83T |
probably benign |
Het |
R3hdml |
A |
G |
2: 163,334,526 (GRCm39) |
T39A |
probably benign |
Het |
Ralgds |
A |
G |
2: 28,435,184 (GRCm39) |
M447V |
probably benign |
Het |
Rgs2 |
T |
C |
1: 143,878,783 (GRCm39) |
D40G |
probably damaging |
Het |
Robo3 |
T |
C |
9: 37,329,789 (GRCm39) |
M1176V |
probably benign |
Het |
Rpap1 |
G |
A |
2: 119,613,519 (GRCm39) |
|
probably benign |
Het |
Skic3 |
A |
T |
13: 76,278,447 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
C |
17: 28,857,560 (GRCm39) |
D861G |
possibly damaging |
Het |
Slc4a8 |
A |
T |
15: 100,698,469 (GRCm39) |
I705F |
probably benign |
Het |
Socs7 |
A |
G |
11: 97,253,973 (GRCm39) |
D169G |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,637,933 (GRCm39) |
V878A |
probably benign |
Het |
Thop1 |
C |
T |
10: 80,916,001 (GRCm39) |
R395W |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,017,897 (GRCm39) |
H765Q |
probably benign |
Het |
Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
Vmn1r233 |
T |
A |
17: 21,214,069 (GRCm39) |
M294L |
possibly damaging |
Het |
Vmn1r27 |
T |
C |
6: 58,192,867 (GRCm39) |
T46A |
probably benign |
Het |
Vmn2r28 |
A |
G |
7: 5,483,747 (GRCm39) |
S818P |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,430,850 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
A |
G |
7: 6,308,321 (GRCm39) |
M330V |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,071 (GRCm39) |
Y725C |
probably damaging |
Het |
Zhx3 |
C |
T |
2: 160,624,020 (GRCm39) |
S49N |
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 |
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 |
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 |
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'- GGTGGTGTCTGAACTTGAAATAAC -3'
(R):5'- TTGGCACCACAGTTGCAGC -3'
Sequencing Primer
(F):5'- GCCTTGACTTCTGGGAATAACAGAC -3'
(R):5'- CCACAGTTGCAGCCAATTTTTAGAC -3'
|
Posted On |
2022-05-16 |