Incidental Mutation 'R0369:Cyp2c39'
ID |
30410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c39
|
Ensembl Gene |
ENSMUSG00000025003 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 39 |
Synonyms |
|
MMRRC Submission |
038575-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R0369 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39499306-39556973 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39502079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 156
(L156P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025968]
|
AlphaFold |
P56656 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025968
AA Change: L156P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025968 Gene: ENSMUSG00000025003 AA Change: L156P
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
1.1e-163 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921528I07Rik |
G |
A |
9: 114,129,077 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2 |
T |
A |
3: 59,932,143 (GRCm39) |
Y219* |
probably null |
Het |
Adamts13 |
C |
A |
2: 26,895,198 (GRCm39) |
D1096E |
probably benign |
Het |
Adamts16 |
T |
G |
13: 70,927,671 (GRCm39) |
K523Q |
possibly damaging |
Het |
Adcy2 |
A |
G |
13: 68,820,019 (GRCm39) |
F740S |
probably benign |
Het |
Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
Ccdc97 |
T |
C |
7: 25,413,833 (GRCm39) |
T283A |
probably damaging |
Het |
Cmpk2 |
G |
T |
12: 26,527,150 (GRCm39) |
E380* |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,833,543 (GRCm39) |
I911T |
probably damaging |
Het |
D7Ertd443e |
T |
C |
7: 133,899,866 (GRCm39) |
I499V |
possibly damaging |
Het |
Dhx58 |
A |
C |
11: 100,592,374 (GRCm39) |
|
probably null |
Het |
Dip2a |
C |
T |
10: 76,134,621 (GRCm39) |
G390S |
probably damaging |
Het |
Dusp10 |
A |
G |
1: 183,801,253 (GRCm39) |
D340G |
probably damaging |
Het |
Epha1 |
A |
T |
6: 42,342,407 (GRCm39) |
C314S |
probably damaging |
Het |
Exph5 |
A |
T |
9: 53,284,602 (GRCm39) |
H561L |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,552,780 (GRCm39) |
|
probably null |
Het |
Foxc1 |
A |
C |
13: 31,991,495 (GRCm39) |
N102T |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,814,908 (GRCm39) |
I3547T |
probably benign |
Het |
Gm5464 |
G |
T |
14: 67,106,774 (GRCm39) |
|
probably benign |
Het |
Gnptab |
C |
T |
10: 88,269,456 (GRCm39) |
R720C |
possibly damaging |
Het |
Greb1l |
T |
C |
18: 10,469,375 (GRCm39) |
V130A |
possibly damaging |
Het |
Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
Hnrnpul2 |
C |
A |
19: 8,801,777 (GRCm39) |
D328E |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,410,985 (GRCm39) |
Y1691C |
probably damaging |
Het |
Kremen2 |
T |
C |
17: 23,961,784 (GRCm39) |
D241G |
probably benign |
Het |
Meis2 |
T |
C |
2: 115,893,897 (GRCm39) |
D5G |
possibly damaging |
Het |
Mrps5 |
G |
A |
2: 127,433,749 (GRCm39) |
R46K |
probably benign |
Het |
Myh14 |
C |
T |
7: 44,310,374 (GRCm39) |
V170M |
probably damaging |
Het |
Nexn |
T |
C |
3: 151,953,894 (GRCm39) |
N123D |
probably benign |
Het |
Or11g26 |
T |
A |
14: 50,753,282 (GRCm39) |
M207K |
probably benign |
Het |
Or4d11 |
A |
T |
19: 12,013,765 (GRCm39) |
S114T |
probably benign |
Het |
Or51l14 |
T |
A |
7: 103,101,423 (GRCm39) |
I293N |
probably damaging |
Het |
Pacs1 |
C |
T |
19: 5,191,726 (GRCm39) |
V704M |
probably damaging |
Het |
Papolg |
A |
G |
11: 23,822,425 (GRCm39) |
|
probably null |
Het |
Pdlim3 |
T |
C |
8: 46,370,543 (GRCm39) |
V281A |
probably benign |
Het |
Plpp4 |
T |
G |
7: 128,925,190 (GRCm39) |
F142V |
probably damaging |
Het |
Prb1a |
G |
A |
6: 132,184,620 (GRCm39) |
Q338* |
probably null |
Het |
Psg26 |
G |
T |
7: 18,216,481 (GRCm39) |
Y119* |
probably null |
Het |
Ptger4 |
A |
G |
15: 5,272,491 (GRCm39) |
C68R |
probably benign |
Het |
Ptpre |
T |
A |
7: 135,272,444 (GRCm39) |
I399N |
probably damaging |
Het |
Ripply2 |
A |
G |
9: 86,898,372 (GRCm39) |
Y72C |
probably damaging |
Het |
Rp1l1 |
T |
A |
14: 64,266,837 (GRCm39) |
S808T |
possibly damaging |
Het |
Scn5a |
G |
A |
9: 119,362,838 (GRCm39) |
T594I |
probably damaging |
Het |
Sf3b1 |
T |
C |
1: 55,037,267 (GRCm39) |
D883G |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,369,220 (GRCm39) |
|
probably null |
Het |
Terf1 |
A |
G |
1: 15,889,207 (GRCm39) |
H212R |
probably damaging |
Het |
Tmco5 |
T |
G |
2: 116,711,269 (GRCm39) |
|
probably null |
Het |
Tnfaip3 |
A |
T |
10: 18,882,660 (GRCm39) |
Y252* |
probably null |
Het |
Tnrc6a |
T |
A |
7: 122,770,083 (GRCm39) |
N624K |
probably damaging |
Het |
Top3a |
C |
A |
11: 60,633,615 (GRCm39) |
R827L |
probably damaging |
Het |
Unc79 |
G |
A |
12: 103,055,031 (GRCm39) |
|
probably null |
Het |
Usp20 |
T |
C |
2: 30,901,116 (GRCm39) |
S422P |
probably benign |
Het |
Utrn |
T |
C |
10: 12,509,766 (GRCm39) |
E2402G |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,063,734 (GRCm39) |
Q181* |
probably null |
Het |
Zfp536 |
T |
C |
7: 37,267,373 (GRCm39) |
E681G |
probably damaging |
Het |
Zfp91 |
C |
T |
19: 12,747,438 (GRCm39) |
V562I |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,148,017 (GRCm39) |
I204N |
probably benign |
Het |
|
Other mutations in Cyp2c39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00646:Cyp2c39
|
APN |
19 |
39,501,935 (GRCm39) |
splice site |
probably benign |
|
IGL01806:Cyp2c39
|
APN |
19 |
39,525,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02158:Cyp2c39
|
APN |
19 |
39,556,574 (GRCm39) |
missense |
probably benign |
|
IGL02219:Cyp2c39
|
APN |
19 |
39,556,643 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02483:Cyp2c39
|
APN |
19 |
39,525,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02490:Cyp2c39
|
APN |
19 |
39,527,446 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02597:Cyp2c39
|
APN |
19 |
39,549,331 (GRCm39) |
nonsense |
probably null |
|
IGL03089:Cyp2c39
|
APN |
19 |
39,552,295 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03197:Cyp2c39
|
APN |
19 |
39,555,361 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03392:Cyp2c39
|
APN |
19 |
39,501,767 (GRCm39) |
missense |
probably benign |
0.40 |
G1citation:Cyp2c39
|
UTSW |
19 |
39,525,261 (GRCm39) |
missense |
probably damaging |
0.98 |
R0086:Cyp2c39
|
UTSW |
19 |
39,499,357 (GRCm39) |
missense |
unknown |
|
R0585:Cyp2c39
|
UTSW |
19 |
39,525,203 (GRCm39) |
missense |
probably benign |
0.43 |
R0586:Cyp2c39
|
UTSW |
19 |
39,501,934 (GRCm39) |
splice site |
probably benign |
|
R0906:Cyp2c39
|
UTSW |
19 |
39,499,315 (GRCm39) |
start codon destroyed |
probably null |
|
R1613:Cyp2c39
|
UTSW |
19 |
39,527,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R1711:Cyp2c39
|
UTSW |
19 |
39,555,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R1780:Cyp2c39
|
UTSW |
19 |
39,527,295 (GRCm39) |
splice site |
probably benign |
|
R2208:Cyp2c39
|
UTSW |
19 |
39,549,405 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2327:Cyp2c39
|
UTSW |
19 |
39,527,397 (GRCm39) |
missense |
probably benign |
0.07 |
R3431:Cyp2c39
|
UTSW |
19 |
39,525,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R4847:Cyp2c39
|
UTSW |
19 |
39,549,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Cyp2c39
|
UTSW |
19 |
39,502,020 (GRCm39) |
missense |
probably benign |
0.43 |
R4900:Cyp2c39
|
UTSW |
19 |
39,502,020 (GRCm39) |
missense |
probably benign |
0.43 |
R4974:Cyp2c39
|
UTSW |
19 |
39,552,323 (GRCm39) |
missense |
probably benign |
0.25 |
R5159:Cyp2c39
|
UTSW |
19 |
39,549,378 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5470:Cyp2c39
|
UTSW |
19 |
39,501,974 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5860:Cyp2c39
|
UTSW |
19 |
39,525,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R6013:Cyp2c39
|
UTSW |
19 |
39,501,969 (GRCm39) |
missense |
probably benign |
0.03 |
R6018:Cyp2c39
|
UTSW |
19 |
39,499,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R6230:Cyp2c39
|
UTSW |
19 |
39,525,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R6261:Cyp2c39
|
UTSW |
19 |
39,556,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R6345:Cyp2c39
|
UTSW |
19 |
39,501,616 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6345:Cyp2c39
|
UTSW |
19 |
39,501,615 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6822:Cyp2c39
|
UTSW |
19 |
39,525,261 (GRCm39) |
missense |
probably damaging |
0.98 |
R6925:Cyp2c39
|
UTSW |
19 |
39,501,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R7578:Cyp2c39
|
UTSW |
19 |
39,499,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R7871:Cyp2c39
|
UTSW |
19 |
39,549,405 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8032:Cyp2c39
|
UTSW |
19 |
39,499,426 (GRCm39) |
missense |
probably benign |
0.00 |
R8293:Cyp2c39
|
UTSW |
19 |
39,552,411 (GRCm39) |
missense |
probably benign |
0.03 |
R8393:Cyp2c39
|
UTSW |
19 |
39,525,255 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8954:Cyp2c39
|
UTSW |
19 |
39,525,197 (GRCm39) |
missense |
probably benign |
0.04 |
R8985:Cyp2c39
|
UTSW |
19 |
39,552,419 (GRCm39) |
missense |
probably benign |
0.34 |
R9146:Cyp2c39
|
UTSW |
19 |
39,527,344 (GRCm39) |
missense |
|
|
R9224:Cyp2c39
|
UTSW |
19 |
39,527,332 (GRCm39) |
missense |
probably benign |
0.17 |
R9472:Cyp2c39
|
UTSW |
19 |
39,502,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R9615:Cyp2c39
|
UTSW |
19 |
39,501,617 (GRCm39) |
missense |
probably benign |
0.02 |
R9616:Cyp2c39
|
UTSW |
19 |
39,501,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Cyp2c39
|
UTSW |
19 |
39,556,493 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAAGGGATGGGCTTCCTTCGTAG -3'
(R):5'- ACTCTCTGGTGAAATGATCCACAATGG -3'
Sequencing Primer
(F):5'- AGGTACAGTGGGACCTCTCTATG -3'
(R):5'- CACAATGGGGAAATTACATTTGTGC -3'
|
Posted On |
2013-04-24 |