Incidental Mutation 'R0906:Cyp2c39'
| ID |
83342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c39
|
| Ensembl Gene |
ENSMUSG00000025003 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 39 |
| Synonyms |
|
| MMRRC Submission |
039064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R0906 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39499306-39556973 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 39499315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025968]
|
| AlphaFold |
P56656 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025968
AA Change: M1V
|
| SMART Domains |
Protein: ENSMUSP00000025968
Gene: ENSMUSG00000025003
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
1.1e-163 |
PFAM |
|
| Meta Mutation Damage Score |
0.8517 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
T |
A |
1: 130,665,430 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,517,842 (GRCm39) |
H332R |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,141 (GRCm39) |
P47L |
possibly damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,275,610 (GRCm39) |
E442G |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,642,308 (GRCm39) |
T660A |
probably damaging |
Het |
| Gm4945 |
A |
C |
17: 47,353,796 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6729 |
T |
C |
10: 86,376,456 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
G |
A |
2: 38,937,655 (GRCm39) |
R204W |
probably damaging |
Het |
| Guf1 |
T |
C |
5: 69,723,729 (GRCm39) |
I348T |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,527,160 (GRCm39) |
I212L |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Lgalsl2 |
T |
C |
7: 5,362,828 (GRCm39) |
I153T |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,425,403 (GRCm39) |
V1520A |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,211,144 (GRCm39) |
V315I |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,213,827 (GRCm39) |
G1740C |
probably damaging |
Het |
| Or1r1 |
G |
C |
11: 73,874,685 (GRCm39) |
L250V |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,726,700 (GRCm39) |
|
probably benign |
Het |
| Pik3r6 |
T |
C |
11: 68,426,927 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,292,556 (GRCm39) |
F1336I |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,345,291 (GRCm39) |
I355T |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,104,048 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,677,924 (GRCm39) |
M312K |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,227,287 (GRCm39) |
I401T |
probably benign |
Het |
| Slc9a8 |
G |
T |
2: 167,276,787 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,867,206 (GRCm39) |
E1718G |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,179,268 (GRCm39) |
I640N |
probably damaging |
Het |
| Tmem217 |
A |
G |
17: 29,745,490 (GRCm39) |
L80P |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,205,792 (GRCm39) |
P810L |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,614,262 (GRCm39) |
R151C |
probably damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,655,666 (GRCm39) |
L626R |
probably damaging |
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 |
|
|
R0369:Cyp2c39
|
UTSW |
19 |
39,502,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- GGTTGCGGAGTTATCTTGCATTTCAAA -3'
(R):5'- GGAGCGCAAGGAATACTTACATTGGTT -3'
Sequencing Primer
(F):5'- GGACATAAGCCTGTACTGTTAACC -3'
(R):5'- ACATTGGTTAAGGATTGGCTGAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation