Incidental Mutation 'R0317:Slco3a1'
ID |
25453 |
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 |
038527-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R0317 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 74154174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 104
(Y104D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
[ENSMUST00000107453]
[ENSMUST00000138099]
|
AlphaFold |
Q8R3L5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026897
AA Change: Y133D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026897 Gene: ENSMUSG00000025790 AA Change: Y133D
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: Y133D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095973 Gene: ENSMUSG00000025790 AA Change: Y133D
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 damaging
Transcript: ENSMUST00000107453
AA Change: Y133D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103077 Gene: ENSMUSG00000025790 AA Change: Y133D
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129292
|
Predicted Effect |
unknown
Transcript: ENSMUST00000134539
AA Change: Y94D
|
SMART Domains |
Protein: ENSMUSP00000116946 Gene: ENSMUSG00000025790 AA Change: Y94D
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
3 |
181 |
1.6e-56 |
PFAM |
Pfam:MFS_1
|
6 |
183 |
3.3e-10 |
PFAM |
Pfam:OATP
|
179 |
219 |
2.5e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136389
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138099
AA Change: Y104D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115279 Gene: ENSMUSG00000025790 AA Change: Y104D
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
26 |
165 |
2.4e-47 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,243,459 (GRCm39) |
V1774A |
probably damaging |
Het |
Adam34 |
G |
A |
8: 44,105,288 (GRCm39) |
P119L |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,113,429 (GRCm39) |
|
probably null |
Het |
Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
Bcl11a |
A |
T |
11: 24,122,697 (GRCm39) |
|
probably null |
Het |
Cab39 |
A |
G |
1: 85,776,881 (GRCm39) |
E322G |
probably damaging |
Het |
Cad |
C |
A |
5: 31,229,665 (GRCm39) |
P1382Q |
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,864,243 (GRCm39) |
|
probably null |
Het |
Cela2a |
A |
T |
4: 141,549,011 (GRCm39) |
|
probably null |
Het |
Cert1 |
C |
T |
13: 96,770,629 (GRCm39) |
R487* |
probably null |
Het |
Ces1e |
A |
C |
8: 93,950,667 (GRCm39) |
I38S |
probably benign |
Het |
Ces1f |
A |
T |
8: 93,990,019 (GRCm39) |
F364I |
probably benign |
Het |
Chgb |
A |
G |
2: 132,635,731 (GRCm39) |
T558A |
probably benign |
Het |
Cnpy4 |
C |
T |
5: 138,191,074 (GRCm39) |
Q217* |
probably null |
Het |
Crlf1 |
A |
G |
8: 70,951,249 (GRCm39) |
T43A |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,173,816 (GRCm39) |
M707K |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,513,193 (GRCm39) |
S123N |
probably damaging |
Het |
Fry |
T |
C |
5: 150,394,933 (GRCm39) |
F304S |
probably damaging |
Het |
Gadd45gip1 |
G |
A |
8: 85,560,745 (GRCm39) |
R120H |
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,242,459 (GRCm39) |
T96A |
probably benign |
Het |
Ggn |
T |
A |
7: 28,870,515 (GRCm39) |
M1K |
probably null |
Het |
Gm5239 |
A |
G |
18: 35,669,969 (GRCm39) |
T112A |
probably benign |
Het |
Insyn2b |
C |
A |
11: 34,352,826 (GRCm39) |
D289E |
possibly damaging |
Het |
Kifbp |
A |
T |
10: 62,413,861 (GRCm39) |
|
probably null |
Het |
Lrrc15 |
A |
T |
16: 30,092,561 (GRCm39) |
H259Q |
probably benign |
Het |
Lysmd4 |
A |
G |
7: 66,876,045 (GRCm39) |
Y236C |
probably damaging |
Het |
Med29 |
T |
C |
7: 28,086,284 (GRCm39) |
T175A |
possibly damaging |
Het |
Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,108,338 (GRCm39) |
L1308P |
probably damaging |
Het |
Nphp4 |
T |
A |
4: 152,636,388 (GRCm39) |
|
probably null |
Het |
Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
Pgm5 |
A |
G |
19: 24,801,763 (GRCm39) |
I155T |
possibly damaging |
Het |
Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
Phactr4 |
T |
A |
4: 132,114,241 (GRCm39) |
K51I |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
Rab11a |
A |
G |
9: 64,632,835 (GRCm39) |
S24P |
probably damaging |
Het |
Rasef |
T |
C |
4: 73,666,799 (GRCm39) |
Q160R |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,813,772 (GRCm39) |
D339G |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
Rfc1 |
A |
T |
5: 65,453,395 (GRCm39) |
|
probably null |
Het |
Scarb1 |
A |
G |
5: 125,366,756 (GRCm39) |
V59A |
probably damaging |
Het |
Slc2a4 |
C |
T |
11: 69,837,182 (GRCm39) |
V85M |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,335,584 (GRCm39) |
I291V |
possibly damaging |
Het |
Suz12 |
T |
A |
11: 79,889,904 (GRCm39) |
D13E |
probably damaging |
Het |
Tlr1 |
G |
T |
5: 65,083,310 (GRCm39) |
C422* |
probably null |
Het |
Tmco1 |
T |
C |
1: 167,153,462 (GRCm39) |
V114A |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,951,856 (GRCm39) |
T948A |
probably benign |
Het |
Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
Ufsp2 |
G |
A |
8: 46,445,270 (GRCm39) |
|
probably null |
Het |
Veph1 |
T |
C |
3: 66,079,396 (GRCm39) |
D373G |
probably benign |
Het |
Vmn1r206 |
A |
G |
13: 22,805,130 (GRCm39) |
S26P |
possibly damaging |
Het |
Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
Wnk4 |
T |
C |
11: 101,159,630 (GRCm39) |
S612P |
probably benign |
Het |
Zfp503 |
T |
C |
14: 22,036,527 (GRCm39) |
K130E |
probably benign |
Het |
Zkscan16 |
G |
A |
4: 58,957,602 (GRCm39) |
C628Y |
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 |
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 |
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'- GGGTCCAACTTTGCACCACTACAC -3'
(R):5'- ATCGCCAGCAGCTTTGAGATCG -3'
Sequencing Primer
(F):5'- TGGTCGTCAATATAGGAGACCC -3'
(R):5'- CAGCTTTGAGATCGGCAAC -3'
|
Posted On |
2013-04-16 |