Incidental Mutation 'R0782:Cyp2c37'
ID |
76698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c37
|
Ensembl Gene |
ENSMUSG00000042248 |
Gene Name |
cytochrome P450, family 2. subfamily c, polypeptide 37 |
Synonyms |
|
MMRRC Submission |
038962-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R0782 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39980868-40000687 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39982269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 90
(H90R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049178]
|
AlphaFold |
P56654 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049178
AA Change: H90R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000045362 Gene: ENSMUSG00000042248 AA Change: H90R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
5e-160 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap23 |
C |
T |
11: 97,391,380 (GRCm39) |
P1299L |
possibly damaging |
Het |
B3glct |
C |
T |
5: 149,650,275 (GRCm39) |
T126M |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,941,273 (GRCm39) |
D1492E |
probably damaging |
Het |
Cdc14a |
A |
G |
3: 116,115,785 (GRCm39) |
I259T |
probably damaging |
Het |
Cog7 |
C |
A |
7: 121,543,020 (GRCm39) |
A464S |
possibly damaging |
Het |
Csf2rb2 |
C |
A |
15: 78,170,951 (GRCm39) |
K368N |
probably damaging |
Het |
Cspp1 |
T |
A |
1: 10,200,199 (GRCm39) |
|
probably benign |
Het |
Dcst1 |
A |
G |
3: 89,264,807 (GRCm39) |
F314L |
possibly damaging |
Het |
Dhx36 |
A |
T |
3: 62,414,135 (GRCm39) |
|
probably benign |
Het |
Efr3b |
G |
A |
12: 4,034,686 (GRCm39) |
|
probably benign |
Het |
Faap100 |
A |
G |
11: 120,267,530 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
G |
1: 150,629,416 (GRCm39) |
I947T |
possibly damaging |
Het |
Ilkap |
C |
T |
1: 91,306,272 (GRCm39) |
R103H |
probably damaging |
Het |
Impa1 |
A |
T |
3: 10,387,956 (GRCm39) |
|
probably benign |
Het |
Kbtbd8 |
C |
T |
6: 95,099,213 (GRCm39) |
R164C |
probably damaging |
Het |
Lactb2 |
T |
G |
1: 13,717,675 (GRCm39) |
N116T |
probably benign |
Het |
Myh8 |
T |
A |
11: 67,180,580 (GRCm39) |
N605K |
probably benign |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Napa |
T |
C |
7: 15,849,192 (GRCm39) |
M244T |
probably benign |
Het |
Nckap5 |
G |
A |
1: 125,909,278 (GRCm39) |
S1719F |
probably damaging |
Het |
Nfe2l2 |
T |
C |
2: 75,507,177 (GRCm39) |
I308V |
probably benign |
Het |
Or51af1 |
C |
A |
7: 103,141,722 (GRCm39) |
R121L |
probably damaging |
Het |
Ppfia2 |
C |
T |
10: 106,763,592 (GRCm39) |
S1195L |
probably benign |
Het |
Rasa4 |
A |
G |
5: 136,133,386 (GRCm39) |
K615R |
possibly damaging |
Het |
Rnf216 |
T |
C |
5: 143,054,647 (GRCm39) |
K634E |
possibly damaging |
Het |
Samd3 |
A |
G |
10: 26,146,138 (GRCm39) |
T388A |
probably damaging |
Het |
Serping1 |
G |
A |
2: 84,597,790 (GRCm39) |
P364S |
probably damaging |
Het |
Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
Smc2 |
C |
A |
4: 52,469,799 (GRCm39) |
T762K |
probably benign |
Het |
Smpd1 |
T |
A |
7: 105,204,550 (GRCm39) |
V143E |
possibly damaging |
Het |
Synj2bp |
A |
T |
12: 81,579,507 (GRCm39) |
L16Q |
probably damaging |
Het |
Tcof1 |
G |
A |
18: 60,949,352 (GRCm39) |
R1188W |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,661,740 (GRCm39) |
R1722G |
possibly damaging |
Het |
Vamp5 |
T |
C |
6: 72,346,453 (GRCm39) |
S48G |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,853,195 (GRCm39) |
|
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,839,382 (GRCm39) |
N161S |
possibly damaging |
Het |
Zfp831 |
A |
G |
2: 174,488,423 (GRCm39) |
T1033A |
probably benign |
Het |
|
Other mutations in Cyp2c37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Cyp2c37
|
APN |
19 |
39,990,441 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01307:Cyp2c37
|
APN |
19 |
39,981,023 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01959:Cyp2c37
|
APN |
19 |
39,984,277 (GRCm39) |
nonsense |
probably null |
|
IGL02580:Cyp2c37
|
APN |
19 |
39,982,942 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02611:Cyp2c37
|
APN |
19 |
39,982,309 (GRCm39) |
missense |
probably benign |
0.00 |
R0124:Cyp2c37
|
UTSW |
19 |
39,982,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R0391:Cyp2c37
|
UTSW |
19 |
39,982,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Cyp2c37
|
UTSW |
19 |
39,984,238 (GRCm39) |
missense |
probably benign |
0.00 |
R1413:Cyp2c37
|
UTSW |
19 |
39,982,542 (GRCm39) |
missense |
probably benign |
0.21 |
R1637:Cyp2c37
|
UTSW |
19 |
39,990,426 (GRCm39) |
nonsense |
probably null |
|
R1688:Cyp2c37
|
UTSW |
19 |
39,982,887 (GRCm39) |
splice site |
probably null |
|
R2258:Cyp2c37
|
UTSW |
19 |
39,984,303 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4353:Cyp2c37
|
UTSW |
19 |
39,988,989 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4640:Cyp2c37
|
UTSW |
19 |
40,000,276 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4965:Cyp2c37
|
UTSW |
19 |
40,000,206 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5053:Cyp2c37
|
UTSW |
19 |
39,990,331 (GRCm39) |
missense |
probably benign |
0.00 |
R5645:Cyp2c37
|
UTSW |
19 |
39,982,596 (GRCm39) |
missense |
probably benign |
0.04 |
R5847:Cyp2c37
|
UTSW |
19 |
40,000,176 (GRCm39) |
missense |
probably damaging |
0.98 |
R6487:Cyp2c37
|
UTSW |
19 |
39,983,025 (GRCm39) |
missense |
probably benign |
|
R6631:Cyp2c37
|
UTSW |
19 |
39,998,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R7062:Cyp2c37
|
UTSW |
19 |
39,983,990 (GRCm39) |
splice site |
probably null |
|
R7937:Cyp2c37
|
UTSW |
19 |
39,982,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R9640:Cyp2c37
|
UTSW |
19 |
40,000,180 (GRCm39) |
missense |
probably benign |
0.01 |
R9779:Cyp2c37
|
UTSW |
19 |
39,998,323 (GRCm39) |
missense |
probably benign |
0.09 |
R9784:Cyp2c37
|
UTSW |
19 |
39,988,943 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTGAAGTGAGCATGAGCATCC -3'
(R):5'- AGCGTCATGAGTGAGAAACGCC -3'
Sequencing Primer
(F):5'- TTTGCAATAGTGCCCTAGAAATG -3'
(R):5'- CACTCAGTAGAGAGTACATCCTG -3'
|
Posted On |
2013-10-16 |