Incidental Mutation 'R0919:Cyp2c38'
| ID |
82804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c38
|
| Ensembl Gene |
ENSMUSG00000032808 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 38 |
| Synonyms |
|
| MMRRC Submission |
039069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39379109-39451519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 39393113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 318
(D318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035488]
|
| AlphaFold |
P56655 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035488
AA Change: D318A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: D318A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
1.5e-161 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
| Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
| Cfap70 |
G |
A |
14: 20,454,232 (GRCm39) |
P851S |
probably benign |
Het |
| Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,278,124 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
| Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
| Or5m3 |
A |
G |
2: 85,838,984 (GRCm39) |
Y288C |
possibly damaging |
Het |
| Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
| Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
| Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,247,395 (GRCm39) |
L906S |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,582,382 (GRCm39) |
L676P |
probably benign |
Het |
| Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,158 (GRCm39) |
L305Q |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,949,223 (GRCm39) |
Y232C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,095 (GRCm39) |
I414V |
probably damaging |
Het |
| Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
| Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
| U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
| Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
| Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
| Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
probably damaging |
Het |
|
| Other mutations in Cyp2c38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Cyp2c38
|
APN |
19 |
39,449,169 (GRCm39) |
nonsense |
probably null |
|
|
IGL01109:Cyp2c38
|
APN |
19 |
39,451,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01521:Cyp2c38
|
APN |
19 |
39,449,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02036:Cyp2c38
|
APN |
19 |
39,448,760 (GRCm39) |
missense |
probably null |
0.97 |
|
IGL02187:Cyp2c38
|
APN |
19 |
39,424,649 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02954:Cyp2c38
|
APN |
19 |
39,379,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0479:Cyp2c38
|
UTSW |
19 |
39,451,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0684:Cyp2c38
|
UTSW |
19 |
39,379,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1462:Cyp2c38
|
UTSW |
19 |
39,380,632 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1462:Cyp2c38
|
UTSW |
19 |
39,380,632 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1642:Cyp2c38
|
UTSW |
19 |
39,390,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1715:Cyp2c38
|
UTSW |
19 |
39,393,239 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1900:Cyp2c38
|
UTSW |
19 |
39,426,756 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1954:Cyp2c38
|
UTSW |
19 |
39,393,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1955:Cyp2c38
|
UTSW |
19 |
39,393,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2860:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2861:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2862:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3084:Cyp2c38
|
UTSW |
19 |
39,390,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3727:Cyp2c38
|
UTSW |
19 |
39,380,739 (GRCm39) |
splice site |
probably benign |
|
|
R4648:Cyp2c38
|
UTSW |
19 |
39,449,132 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5119:Cyp2c38
|
UTSW |
19 |
39,449,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Cyp2c38
|
UTSW |
19 |
39,426,750 (GRCm39) |
nonsense |
probably null |
|
|
R5651:Cyp2c38
|
UTSW |
19 |
39,449,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6263:Cyp2c38
|
UTSW |
19 |
39,380,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Cyp2c38
|
UTSW |
19 |
39,380,737 (GRCm39) |
splice site |
probably null |
|
|
R6853:Cyp2c38
|
UTSW |
19 |
39,426,748 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6915:Cyp2c38
|
UTSW |
19 |
39,424,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7201:Cyp2c38
|
UTSW |
19 |
39,390,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Cyp2c38
|
UTSW |
19 |
39,393,187 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7625:Cyp2c38
|
UTSW |
19 |
39,451,368 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7666:Cyp2c38
|
UTSW |
19 |
39,426,686 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8681:Cyp2c38
|
UTSW |
19 |
39,390,135 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCAGCATTTGATTGCTTTACCTACA -3'
(R):5'- tctgggctaataAGGGGCAAAGAATCT -3'
Sequencing Primer
(F):5'- GATTGCTTTACCTACAGTCAGAGTC -3'
(R):5'- GGACTCAAAGTCTATTCAACTTGGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation