Incidental Mutation 'R4640:Cyp2c37'
| ID |
351630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c37
|
| Ensembl Gene |
ENSMUSG00000042248 |
| Gene Name |
cytochrome P450, family 2. subfamily c, polypeptide 37 |
| Synonyms |
|
| MMRRC Submission |
041902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R4640 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39980868-40000687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40000276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 466
(D466V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049178]
|
| AlphaFold |
P56654 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049178
AA Change: D466V
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045362
Gene: ENSMUSG00000042248
AA Change: D466V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
5e-160 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,205,947 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,434 (GRCm39) |
|
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,952,297 (GRCm39) |
S463T |
probably benign |
Het |
| Cfap251 |
G |
T |
5: 123,440,495 (GRCm39) |
V1094L |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,093 (GRCm39) |
N98S |
probably damaging |
Het |
| Copz2 |
A |
T |
11: 96,747,533 (GRCm39) |
Q172L |
possibly damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,494,369 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
C |
T |
7: 55,563,199 (GRCm39) |
T865I |
possibly damaging |
Het |
| Dytn |
A |
G |
1: 63,682,507 (GRCm39) |
L380P |
possibly damaging |
Het |
| Fam124b |
G |
A |
1: 80,191,243 (GRCm39) |
R47C |
probably damaging |
Het |
| Foxe3 |
G |
A |
4: 114,782,972 (GRCm39) |
A80V |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,734 (GRCm39) |
|
noncoding transcript |
Het |
| Kera |
A |
T |
10: 97,448,749 (GRCm39) |
Y323F |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,946,197 (GRCm39) |
Y205F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,237 (GRCm39) |
E380G |
probably benign |
Het |
| Mcm2 |
A |
T |
6: 88,864,786 (GRCm39) |
H563Q |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,974 (GRCm39) |
E409G |
probably benign |
Het |
| Mns1 |
A |
G |
9: 72,346,564 (GRCm39) |
K16E |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,349,153 (GRCm38) |
|
noncoding transcript |
Het |
| Nrxn1 |
A |
G |
17: 90,868,196 (GRCm39) |
S1105P |
probably damaging |
Het |
| Odf2l |
G |
A |
3: 144,834,706 (GRCm39) |
R186H |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,274 (GRCm39) |
T16S |
probably benign |
Het |
| Or2d3c |
T |
C |
7: 106,525,800 (GRCm39) |
I289V |
possibly damaging |
Het |
| Phxr2 |
T |
C |
10: 98,961,931 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,725 (GRCm39) |
F243S |
probably damaging |
Het |
| Ppp1r27 |
T |
C |
11: 120,441,553 (GRCm39) |
N76D |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 22,972,797 (GRCm39) |
T236A |
probably damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,102,975 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,616 (GRCm39) |
Q193L |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,827,698 (GRCm39) |
S39G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,564,513 (GRCm39) |
V883A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,134,550 (GRCm39) |
V362E |
probably damaging |
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 |
|
R0782:Cyp2c37
|
UTSW |
19 |
39,982,269 (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 |
|
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'- AGCCATTCGTCCATCTAACC -3'
(R):5'- ACTGGATAAAAGTCAGTGTTTCCAG -3'
Sequencing Primer
(F):5'- ATTCGTCCATCTAACCATACATCG -3'
(R):5'- ATAAAAGTCAGTGTTTCCAGTGTGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation