Incidental Mutation 'R2325:Cyp4x1'
| ID |
244879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4x1
|
| Ensembl Gene |
ENSMUSG00000047155 |
| Gene Name |
cytochrome P450, family 4, subfamily x, polypeptide 1 |
| Synonyms |
Cyp4a28-ps |
| MMRRC Submission |
040316-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R2325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
114963518-114991276 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114981576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 126
(C126S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051400]
[ENSMUST00000106545]
|
| AlphaFold |
Q6A152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051400
AA Change: C152S
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000059545
Gene: ENSMUSG00000047155
AA Change: C152S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
Pfam:p450
|
46 |
501 |
1.5e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106545
AA Change: C126S
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102155
Gene: ENSMUSG00000047155
AA Change: C126S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
Pfam:p450
|
20 |
475 |
4.7e-118 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
| B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
| Dse |
A |
T |
10: 34,060,043 (GRCm39) |
S21T |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,917,745 (GRCm39) |
H558Q |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,414,917 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
| Gtf2b |
A |
G |
3: 142,485,851 (GRCm39) |
T176A |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,924,661 (GRCm39) |
S822F |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp8 |
A |
T |
4: 107,721,206 (GRCm39) |
D602V |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
| Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
| Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
| Prss35 |
G |
A |
9: 86,638,357 (GRCm39) |
G376R |
probably damaging |
Het |
| Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,483,783 (GRCm39) |
G53S |
probably damaging |
Het |
| Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
probably benign |
Het |
|
| Other mutations in Cyp4x1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Cyp4x1
|
APN |
4 |
114,979,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00913:Cyp4x1
|
APN |
4 |
114,970,060 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02990:Cyp4x1
|
APN |
4 |
114,978,946 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03411:Cyp4x1
|
APN |
4 |
114,965,982 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0607:Cyp4x1
|
UTSW |
4 |
114,970,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Cyp4x1
|
UTSW |
4 |
114,983,752 (GRCm39) |
splice site |
probably benign |
|
|
R1148:Cyp4x1
|
UTSW |
4 |
114,983,752 (GRCm39) |
splice site |
probably benign |
|
|
R1426:Cyp4x1
|
UTSW |
4 |
114,969,988 (GRCm39) |
splice site |
probably benign |
|
|
R1484:Cyp4x1
|
UTSW |
4 |
114,970,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Cyp4x1
|
UTSW |
4 |
114,984,757 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1718:Cyp4x1
|
UTSW |
4 |
114,968,867 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2208:Cyp4x1
|
UTSW |
4 |
114,983,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4223:Cyp4x1
|
UTSW |
4 |
114,970,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4588:Cyp4x1
|
UTSW |
4 |
114,965,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Cyp4x1
|
UTSW |
4 |
114,978,902 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5522:Cyp4x1
|
UTSW |
4 |
114,979,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5880:Cyp4x1
|
UTSW |
4 |
114,965,918 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5994:Cyp4x1
|
UTSW |
4 |
114,979,142 (GRCm39) |
missense |
probably benign |
|
|
R6103:Cyp4x1
|
UTSW |
4 |
114,968,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Cyp4x1
|
UTSW |
4 |
114,977,391 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8113:Cyp4x1
|
UTSW |
4 |
114,967,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8172:Cyp4x1
|
UTSW |
4 |
114,968,874 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8366:Cyp4x1
|
UTSW |
4 |
114,970,063 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8766:Cyp4x1
|
UTSW |
4 |
114,967,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Cyp4x1
|
UTSW |
4 |
114,991,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp4x1
|
UTSW |
4 |
114,984,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp4x1
|
UTSW |
4 |
114,967,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCTTACCACCACAGAGTGTTAG -3'
(R):5'- TCGTGAGTCGGTGACATCAG -3'
Sequencing Primer
(F):5'- TCTAAGTCAGAGGACCAGCTCTTG -3'
(R):5'- AGTCGGTGACATCAGGCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation