Incidental Mutation 'R0613:Slco3a1'
| ID |
54884 |
| 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 |
038802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R0613 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 73996382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
[ENSMUST00000107453]
|
| AlphaFold |
Q8R3L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026897
|
| SMART Domains |
Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107453
|
| SMART Domains |
Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
| 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 |
probably benign
Transcript: ENSMUST00000134539
|
| SMART Domains |
Protein: ENSMUSP00000116946
Gene: ENSMUSG00000025790
| 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: ENSMUST00000142175
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
A |
T |
8: 106,427,200 (GRCm39) |
|
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,237,403 (GRCm39) |
S3P |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,248,859 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,249,004 (GRCm39) |
E700G |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,596,979 (GRCm39) |
S56P |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,611,978 (GRCm39) |
I384N |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,399,036 (GRCm39) |
S1519T |
probably benign |
Het |
| Ccl25 |
T |
C |
8: 4,399,850 (GRCm39) |
V94A |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,602,246 (GRCm39) |
T287A |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,752,209 (GRCm39) |
S383P |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,906,228 (GRCm39) |
F793I |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,496 (GRCm39) |
R89G |
probably damaging |
Het |
| Cyp2j12 |
T |
G |
4: 95,990,316 (GRCm39) |
T417P |
probably damaging |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,061 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
A |
4: 139,102,383 (GRCm39) |
|
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,963,853 (GRCm39) |
N239Y |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,848,347 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,139 (GRCm39) |
D6624V |
probably damaging |
Het |
| Gpr107 |
A |
G |
2: 31,068,297 (GRCm39) |
Y253C |
probably damaging |
Het |
| Gpr108 |
A |
G |
17: 57,545,174 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
G |
16: 87,848,221 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
| Gucy2c |
A |
T |
6: 136,737,721 (GRCm39) |
N293K |
probably damaging |
Het |
| Hps6 |
C |
A |
19: 45,992,260 (GRCm39) |
P66T |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,081,033 (GRCm39) |
V216E |
probably damaging |
Het |
| Igsf8 |
T |
A |
1: 172,145,156 (GRCm39) |
M224K |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,238,216 (GRCm39) |
V569A |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,884,168 (GRCm39) |
I952F |
probably damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Khdrbs2 |
A |
G |
1: 32,696,603 (GRCm39) |
H344R |
possibly damaging |
Het |
| Kmo |
C |
A |
1: 175,465,458 (GRCm39) |
R71S |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,739,184 (GRCm39) |
|
probably benign |
Het |
| Map1b |
T |
A |
13: 99,578,149 (GRCm39) |
D168V |
probably damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,697,855 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
G |
A |
6: 138,133,243 (GRCm39) |
G186D |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,299,630 (GRCm39) |
A740V |
probably damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,610,503 (GRCm39) |
Y1605H |
possibly damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,898,509 (GRCm39) |
L443Q |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,060,807 (GRCm39) |
|
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,353 (GRCm39) |
L363Q |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,092,927 (GRCm39) |
T630A |
possibly damaging |
Het |
| Nipal4 |
A |
T |
11: 46,041,211 (GRCm39) |
V328E |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,861 (GRCm39) |
I77F |
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,469 (GRCm39) |
C178S |
probably damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,053 (GRCm39) |
V223E |
possibly damaging |
Het |
| Or6c76 |
T |
A |
10: 129,612,131 (GRCm39) |
M116K |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,909 (GRCm39) |
C166* |
probably null |
Het |
| Otogl |
A |
T |
10: 107,652,931 (GRCm39) |
N1140K |
probably damaging |
Het |
| Ppip5k2 |
A |
C |
1: 97,680,465 (GRCm39) |
Y236* |
probably null |
Het |
| Prelid1 |
C |
T |
13: 55,472,156 (GRCm39) |
R111* |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,394,270 (GRCm39) |
L1771P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,230 (GRCm39) |
Y378F |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,138,283 (GRCm39) |
T396A |
possibly damaging |
Het |
| Rab3il1 |
T |
C |
19: 10,005,728 (GRCm39) |
L174P |
probably damaging |
Het |
| Rab4a |
T |
C |
8: 124,550,574 (GRCm39) |
V18A |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,302,628 (GRCm39) |
M1273L |
possibly damaging |
Het |
| Sdhc |
A |
T |
1: 170,957,413 (GRCm39) |
V156E |
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,924,371 (GRCm39) |
T343A |
probably benign |
Het |
| Syt11 |
A |
G |
3: 88,669,776 (GRCm39) |
C39R |
probably damaging |
Het |
| Tll2 |
G |
T |
19: 41,093,429 (GRCm39) |
D462E |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,329,164 (GRCm39) |
V481D |
probably damaging |
Het |
| Tmem161b |
C |
T |
13: 84,399,439 (GRCm39) |
L17F |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,578 (GRCm39) |
I833F |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,213,140 (GRCm39) |
N175I |
probably damaging |
Het |
| Xpnpep1 |
G |
T |
19: 52,994,784 (GRCm39) |
D238E |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 23,826,453 (GRCm39) |
G807D |
probably benign |
Het |
| Zfp518b |
A |
T |
5: 38,830,946 (GRCm39) |
V353E |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,791,544 (GRCm39) |
E39G |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,032,090 (GRCm39) |
H25R |
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 |
|
R0317:Slco3a1
|
UTSW |
7 |
74,154,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Slco3a1
|
UTSW |
7 |
73,970,301 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGCGAGACTCTCGTACAGTAACCAC -3'
(R):5'- TTTGGCAGGTAACCTGGACATCAC -3'
Sequencing Primer
(F):5'- TGTGTGGGCCAATCATGTCA -3'
(R):5'- TGATGTTTGGGTTCCCACAATC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation