Incidental Mutation 'IGL02330:Cyp4a14'
| ID |
288651 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp4a14
|
| Ensembl Gene |
ENSMUSG00000028715 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 14 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL02330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115343397-115353339 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 115352224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030487]
|
| AlphaFold |
O35728 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030487
|
| SMART Domains |
Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
503 |
5.4e-129 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124412
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice homozygous for disruption of this gene display high blood pressure. Blood pressure is elevated in females as well to levels comparable to normotensive males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,328 (GRCm39) |
G500D |
possibly damaging |
Het |
| Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
| Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,891,517 (GRCm39) |
H8R |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
| Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
| Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
| Ralb |
A |
T |
1: 119,399,450 (GRCm39) |
C203S |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Sf3b4 |
A |
T |
3: 96,080,376 (GRCm39) |
T42S |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,749,493 (GRCm39) |
T584A |
probably benign |
Het |
| Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,165 (GRCm39) |
Y299H |
possibly damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,977,896 (GRCm39) |
I385N |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
| Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
|
| Other mutations in Cyp4a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Cyp4a14
|
APN |
4 |
115,347,149 (GRCm39) |
splice site |
probably benign |
|
|
IGL01539:Cyp4a14
|
APN |
4 |
115,344,374 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01802:Cyp4a14
|
APN |
4 |
115,352,134 (GRCm39) |
nonsense |
probably null |
|
|
IGL02309:Cyp4a14
|
APN |
4 |
115,348,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03302:Cyp4a14
|
APN |
4 |
115,348,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1037:Cyp4a14
|
UTSW |
4 |
115,347,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1236:Cyp4a14
|
UTSW |
4 |
115,349,367 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2132:Cyp4a14
|
UTSW |
4 |
115,348,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Cyp4a14
|
UTSW |
4 |
115,348,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Cyp4a14
|
UTSW |
4 |
115,344,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Cyp4a14
|
UTSW |
4 |
115,344,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Cyp4a14
|
UTSW |
4 |
115,344,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Cyp4a14
|
UTSW |
4 |
115,344,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Cyp4a14
|
UTSW |
4 |
115,344,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Cyp4a14
|
UTSW |
4 |
115,344,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Cyp4a14
|
UTSW |
4 |
115,344,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Cyp4a14
|
UTSW |
4 |
115,348,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4925:Cyp4a14
|
UTSW |
4 |
115,353,133 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5104:Cyp4a14
|
UTSW |
4 |
115,353,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Cyp4a14
|
UTSW |
4 |
115,347,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5150:Cyp4a14
|
UTSW |
4 |
115,350,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Cyp4a14
|
UTSW |
4 |
115,348,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Cyp4a14
|
UTSW |
4 |
115,353,297 (GRCm39) |
nonsense |
probably null |
|
|
R6269:Cyp4a14
|
UTSW |
4 |
115,348,328 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6354:Cyp4a14
|
UTSW |
4 |
115,344,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6377:Cyp4a14
|
UTSW |
4 |
115,353,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6534:Cyp4a14
|
UTSW |
4 |
115,347,156 (GRCm39) |
splice site |
probably null |
|
|
R6563:Cyp4a14
|
UTSW |
4 |
115,349,283 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6751:Cyp4a14
|
UTSW |
4 |
115,348,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7039:Cyp4a14
|
UTSW |
4 |
115,348,278 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7125:Cyp4a14
|
UTSW |
4 |
115,348,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Cyp4a14
|
UTSW |
4 |
115,350,907 (GRCm39) |
splice site |
probably null |
|
|
R7544:Cyp4a14
|
UTSW |
4 |
115,348,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7591:Cyp4a14
|
UTSW |
4 |
115,347,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7740:Cyp4a14
|
UTSW |
4 |
115,350,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Cyp4a14
|
UTSW |
4 |
115,347,156 (GRCm39) |
splice site |
probably null |
|
|
R7753:Cyp4a14
|
UTSW |
4 |
115,350,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Cyp4a14
|
UTSW |
4 |
115,352,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8064:Cyp4a14
|
UTSW |
4 |
115,352,155 (GRCm39) |
missense |
probably benign |
|
|
R8311:Cyp4a14
|
UTSW |
4 |
115,348,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Cyp4a14
|
UTSW |
4 |
115,353,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Cyp4a14
|
UTSW |
4 |
115,348,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9039:Cyp4a14
|
UTSW |
4 |
115,344,461 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9632:Cyp4a14
|
UTSW |
4 |
115,349,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Cyp4a14
|
UTSW |
4 |
115,349,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cyp4a14
|
UTSW |
4 |
115,347,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Cyp4a14
|
UTSW |
4 |
115,348,650 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2015-04-16 |
Incidental Mutation