Incidental Mutation 'R2208:Cyp2c39'
ID |
236806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c39
|
Ensembl Gene |
ENSMUSG00000025003 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 39 |
Synonyms |
|
MMRRC Submission |
040210-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R2208 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39499306-39556973 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39549405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 308
(Y308H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025968]
|
AlphaFold |
P56656 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025968
AA Change: Y308H
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000025968 Gene: ENSMUSG00000025003 AA Change: Y308H
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 |
0.3861 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,995,096 (GRCm39) |
V5460A |
probably benign |
Het |
Bco2 |
A |
G |
9: 50,444,755 (GRCm39) |
V517A |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,455,809 (GRCm39) |
D183E |
probably damaging |
Het |
Ccdc142 |
T |
C |
6: 83,084,941 (GRCm39) |
|
probably null |
Het |
Ccdc39 |
A |
G |
3: 33,895,327 (GRCm39) |
L34P |
probably damaging |
Het |
Cdc42bpb |
T |
A |
12: 111,302,463 (GRCm39) |
H198L |
probably damaging |
Het |
Cdc73 |
T |
A |
1: 143,485,120 (GRCm39) |
E516V |
probably damaging |
Het |
Cep170b |
T |
A |
12: 112,705,419 (GRCm39) |
L1059Q |
probably benign |
Het |
Chrm1 |
T |
C |
19: 8,655,463 (GRCm39) |
L56P |
probably damaging |
Het |
Clec4d |
T |
A |
6: 123,242,314 (GRCm39) |
V22D |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,223,887 (GRCm39) |
N883K |
probably benign |
Het |
Cyp2d12 |
T |
C |
15: 82,441,137 (GRCm39) |
L141P |
probably damaging |
Het |
Cyp4x1 |
G |
T |
4: 114,983,791 (GRCm39) |
Q85K |
probably benign |
Het |
Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
Enpp7 |
T |
C |
11: 118,879,588 (GRCm39) |
|
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fitm2 |
T |
A |
2: 163,314,604 (GRCm39) |
|
probably benign |
Het |
Gng10 |
T |
A |
4: 59,035,314 (GRCm39) |
I26N |
possibly damaging |
Het |
Gpr33 |
C |
T |
12: 52,070,236 (GRCm39) |
V268I |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,270,309 (GRCm39) |
C1182Y |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Krt36 |
C |
T |
11: 99,993,765 (GRCm39) |
V358M |
probably damaging |
Het |
Lmod3 |
T |
C |
6: 97,224,838 (GRCm39) |
I328V |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,712,987 (GRCm39) |
V580A |
probably damaging |
Het |
Masp2 |
T |
C |
4: 148,698,872 (GRCm39) |
I651T |
probably damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Msi2 |
A |
T |
11: 88,480,934 (GRCm39) |
S118T |
probably damaging |
Het |
Muc19 |
T |
C |
15: 91,755,747 (GRCm39) |
|
noncoding transcript |
Het |
Nabp1 |
G |
A |
1: 51,516,773 (GRCm39) |
R32* |
probably null |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Nup88 |
T |
C |
11: 70,856,545 (GRCm39) |
D196G |
probably damaging |
Het |
Or11h4b |
T |
C |
14: 50,919,020 (GRCm39) |
I24V |
probably benign |
Het |
Pax1 |
T |
A |
2: 147,207,722 (GRCm39) |
I198N |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,196,073 (GRCm39) |
E253G |
probably damaging |
Het |
Phldb1 |
C |
T |
9: 44,607,428 (GRCm39) |
R1192Q |
probably damaging |
Het |
Pianp |
C |
A |
6: 124,976,602 (GRCm39) |
P137Q |
probably damaging |
Het |
Prdm15 |
A |
C |
16: 97,600,464 (GRCm39) |
|
probably null |
Het |
Ptprf |
A |
T |
4: 118,126,369 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,525,246 (GRCm39) |
D812G |
probably benign |
Het |
Rgs22 |
T |
C |
15: 36,050,378 (GRCm39) |
T691A |
probably benign |
Het |
Rundc3a |
A |
T |
11: 102,292,914 (GRCm39) |
S436C |
probably damaging |
Het |
Sntb1 |
T |
C |
15: 55,769,714 (GRCm39) |
T92A |
possibly damaging |
Het |
Tars3 |
T |
C |
7: 65,332,596 (GRCm39) |
S566P |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,026,888 (GRCm39) |
|
probably null |
Het |
Tep1 |
T |
C |
14: 51,104,321 (GRCm39) |
Q191R |
probably benign |
Het |
Tmc2 |
C |
A |
2: 130,056,483 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
C |
1: 74,118,399 (GRCm39) |
I77S |
probably damaging |
Het |
Trpd52l3 |
T |
C |
19: 29,981,646 (GRCm39) |
W134R |
probably damaging |
Het |
Vmn2r15 |
A |
C |
5: 109,445,309 (GRCm39) |
N38K |
possibly damaging |
Het |
Wdr90 |
A |
T |
17: 26,079,362 (GRCm39) |
D257E |
probably damaging |
Het |
Zbtb9 |
T |
C |
17: 27,193,098 (GRCm39) |
C168R |
possibly damaging |
Het |
Zfp1004 |
T |
A |
2: 150,035,065 (GRCm39) |
V462E |
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 |
|
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 |
|
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 |
|
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'- GAGATGAAAGCTATGTTGTTTCTCC -3'
(R):5'- TTGCTTACCTACAGTCAGAGTC -3'
Sequencing Primer
(F):5'- TTACTCATAGGCAAATCACAT -3'
(R):5'- ACAGTCAGAGTCCATTTTTCTCAG -3'
|
Posted On |
2014-10-02 |