Incidental Mutation 'R2394:Cyp1a1'
| ID |
247915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp1a1
|
| Ensembl Gene |
ENSMUSG00000032315 |
| Gene Name |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
| Synonyms |
P450-1, cytochrome P450 subfamily I, polypeptide 1 |
| MMRRC Submission |
040362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R2394 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57595211-57611107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57607432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 20
(V20D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034865]
[ENSMUST00000216433]
|
| AlphaFold |
P00184 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034865
AA Change: V20D
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034865
Gene: ENSMUSG00000032315
AA Change: V20D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
509 |
2.3e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216433
AA Change: V20D
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
| Atxn7 |
T |
C |
14: 14,100,237 (GRCm38) |
V641A |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,952,175 (GRCm39) |
I202K |
possibly damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,178,058 (GRCm39) |
I423V |
probably benign |
Het |
| Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
| Htr3a |
A |
G |
9: 48,817,643 (GRCm39) |
V110A |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
| Lrrc46 |
T |
C |
11: 96,929,657 (GRCm39) |
I60V |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
| Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
| Obox2 |
C |
T |
7: 15,130,935 (GRCm39) |
P56S |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,884 (GRCm39) |
D238V |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
| Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
| Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,453,743 (GRCm39) |
D96E |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
| Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
|
| Other mutations in Cyp1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Cyp1a1
|
APN |
9 |
57,607,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02427:Cyp1a1
|
APN |
9 |
57,607,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02952:Cyp1a1
|
APN |
9 |
57,609,993 (GRCm39) |
missense |
probably benign |
|
|
IGL03002:Cyp1a1
|
APN |
9 |
57,609,724 (GRCm39) |
splice site |
probably benign |
|
|
IGL03085:Cyp1a1
|
APN |
9 |
57,608,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT1430001:Cyp1a1
|
UTSW |
9 |
57,608,194 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0508:Cyp1a1
|
UTSW |
9 |
57,607,588 (GRCm39) |
missense |
probably benign |
|
|
R1844:Cyp1a1
|
UTSW |
9 |
57,609,980 (GRCm39) |
missense |
probably benign |
|
|
R2216:Cyp1a1
|
UTSW |
9 |
57,609,352 (GRCm39) |
splice site |
probably null |
|
|
R3966:Cyp1a1
|
UTSW |
9 |
57,607,432 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4056:Cyp1a1
|
UTSW |
9 |
57,607,432 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4367:Cyp1a1
|
UTSW |
9 |
57,607,432 (GRCm39) |
missense |
probably benign |
|
|
R4529:Cyp1a1
|
UTSW |
9 |
57,608,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4616:Cyp1a1
|
UTSW |
9 |
57,609,039 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4656:Cyp1a1
|
UTSW |
9 |
57,609,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5271:Cyp1a1
|
UTSW |
9 |
57,610,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5324:Cyp1a1
|
UTSW |
9 |
57,609,652 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6113:Cyp1a1
|
UTSW |
9 |
57,609,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Cyp1a1
|
UTSW |
9 |
57,607,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Cyp1a1
|
UTSW |
9 |
57,609,361 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6382:Cyp1a1
|
UTSW |
9 |
57,607,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6750:Cyp1a1
|
UTSW |
9 |
57,607,539 (GRCm39) |
missense |
probably benign |
|
|
R6869:Cyp1a1
|
UTSW |
9 |
57,610,067 (GRCm39) |
missense |
probably benign |
|
|
R6881:Cyp1a1
|
UTSW |
9 |
57,608,002 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6913:Cyp1a1
|
UTSW |
9 |
57,607,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7341:Cyp1a1
|
UTSW |
9 |
57,608,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7450:Cyp1a1
|
UTSW |
9 |
57,609,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7938:Cyp1a1
|
UTSW |
9 |
57,609,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Cyp1a1
|
UTSW |
9 |
57,607,479 (GRCm39) |
missense |
probably benign |
|
|
R8322:Cyp1a1
|
UTSW |
9 |
57,610,003 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9025:Cyp1a1
|
UTSW |
9 |
57,610,070 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9215:Cyp1a1
|
UTSW |
9 |
57,609,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9599:Cyp1a1
|
UTSW |
9 |
57,607,770 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1176:Cyp1a1
|
UTSW |
9 |
57,607,877 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Cyp1a1
|
UTSW |
9 |
57,607,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGCTCTGTCCTGCTCTATG -3'
(R):5'- TGAAGCTGTAGAGGTCTGGC -3'
Sequencing Primer
(F):5'- TCTATGCCCAGGGAACAGCTC -3'
(R):5'- TCACCAGGGCCTGCTTGATG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation