Incidental Mutation 'R8128:Slco3a1'
| ID |
631850 |
| 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 |
067557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R8128 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73934049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 708
(S708T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
|
| AlphaFold |
Q8R3L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026897
AA Change: S708T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: S708T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,008,395 (GRCm39) |
R1188G |
probably damaging |
Het |
| Abcc5 |
G |
A |
16: 20,184,473 (GRCm39) |
R1036C |
probably damaging |
Het |
| Arhgap22 |
T |
A |
14: 33,089,042 (GRCm39) |
F508I |
probably benign |
Het |
| Bahcc1 |
C |
T |
11: 120,163,216 (GRCm39) |
Q505* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,916,253 (GRCm39) |
L1723Q |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,784,940 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
C |
A |
5: 5,646,034 (GRCm39) |
M555I |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,676,691 (GRCm39) |
A773T |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,963,129 (GRCm39) |
V15A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,784,789 (GRCm39) |
R206G |
unknown |
Het |
| Dscam |
C |
A |
16: 96,602,374 (GRCm39) |
|
probably null |
Het |
| Eif3k |
A |
T |
7: 28,679,742 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
G |
T |
11: 61,413,321 (GRCm39) |
|
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,568 (GRCm39) |
D215G |
probably benign |
Het |
| Foxa3 |
A |
T |
7: 18,757,341 (GRCm39) |
M1K |
probably null |
Het |
| Glyctk |
T |
C |
9: 106,032,501 (GRCm39) |
H504R |
probably benign |
Het |
| Grin3b |
T |
C |
10: 79,812,944 (GRCm39) |
L394P |
|
Het |
| Hgh1 |
A |
G |
15: 76,254,581 (GRCm39) |
Y319C |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,117,622 (GRCm39) |
T635A |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,346,947 (GRCm39) |
N627K |
probably damaging |
Het |
| Lmtk3 |
G |
T |
7: 45,443,598 (GRCm39) |
M760I |
|
Het |
| Lrp1b |
G |
A |
2: 41,159,248 (GRCm39) |
A1678V |
probably null |
Het |
| Lrrc8c |
A |
T |
5: 105,755,488 (GRCm39) |
N421I |
probably damaging |
Het |
| Mfsd13b |
C |
A |
7: 120,590,495 (GRCm39) |
R79S |
possibly damaging |
Het |
| Or1q1 |
A |
T |
2: 36,887,673 (GRCm39) |
M284L |
probably benign |
Het |
| Or5p50 |
A |
C |
7: 107,422,632 (GRCm39) |
F15V |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,234 (GRCm39) |
T426A |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,449 (GRCm39) |
I500F |
possibly damaging |
Het |
| Polr3gl |
T |
A |
3: 96,487,824 (GRCm39) |
|
probably null |
Het |
| Psmg3 |
A |
G |
5: 139,809,788 (GRCm39) |
V86A |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,977,099 (GRCm39) |
V102E |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,032 (GRCm39) |
|
probably null |
Het |
| Scand1 |
T |
C |
2: 156,153,961 (GRCm39) |
D103G |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,850,383 (GRCm39) |
I70T |
possibly damaging |
Het |
| Sprr2d |
G |
A |
3: 92,247,760 (GRCm39) |
C67Y |
unknown |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Trafd1 |
G |
T |
5: 121,510,465 (GRCm39) |
P567Q |
possibly damaging |
Het |
| Trim32 |
A |
G |
4: 65,531,682 (GRCm39) |
N80D |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,113 (GRCm39) |
L293S |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,747 (GRCm39) |
M272K |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,954,155 (GRCm39) |
L773Q |
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 |
|
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'- CCTGACTGGCTCTGAGTTTTAG -3'
(R):5'- ATTGCGCTCAAGTCCTTTGC -3'
Sequencing Primer
(F):5'- CTGGCTCTGAGTTTTAGAAAAAGGAC -3'
(R):5'- TGCCTGCGGAAAAACTATAAACG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation