Incidental Mutation 'IGL00473:Cyp4a14'
| ID |
6601 |
| 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: 0.074)
|
| Stock # |
IGL00473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115343397-115353339 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 115347149 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arcn1 |
A |
G |
9: 44,668,444 (GRCm39) |
V264A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,045,064 (GRCm39) |
|
probably benign |
Het |
| Brpf1 |
A |
C |
6: 113,293,645 (GRCm39) |
Q571H |
probably damaging |
Het |
| C9orf72 |
C |
T |
4: 35,213,616 (GRCm39) |
G178E |
possibly damaging |
Het |
| Creb3 |
G |
T |
4: 43,565,517 (GRCm39) |
R232L |
probably benign |
Het |
| Cst5 |
G |
T |
2: 149,247,293 (GRCm39) |
S3I |
unknown |
Het |
| Daxx |
C |
T |
17: 34,130,581 (GRCm39) |
Q199* |
probably null |
Het |
| Eml5 |
A |
G |
12: 98,771,751 (GRCm39) |
|
probably benign |
Het |
| Gbp6 |
T |
A |
5: 105,422,145 (GRCm39) |
K520* |
probably null |
Het |
| Gcfc2 |
T |
A |
6: 81,921,355 (GRCm39) |
C454S |
probably damaging |
Het |
| Gm9894 |
T |
A |
13: 67,913,236 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr15 |
C |
T |
16: 58,538,441 (GRCm39) |
C216Y |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,404,436 (GRCm39) |
K134E |
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,651 (GRCm39) |
I679S |
possibly damaging |
Het |
| Klhl10 |
A |
G |
11: 100,347,240 (GRCm39) |
Y478C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,178,009 (GRCm39) |
D54G |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,229 (GRCm39) |
E52G |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,673,357 (GRCm39) |
F172L |
probably benign |
Het |
| Prl7b1 |
A |
T |
13: 27,788,573 (GRCm39) |
V94D |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,975,387 (GRCm39) |
T1116A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,114,767 (GRCm39) |
K709* |
probably null |
Het |
| Ruvbl1 |
A |
T |
6: 88,468,550 (GRCm39) |
R357W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,273,579 (GRCm39) |
L973P |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,023 (GRCm39) |
Y234C |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,930,072 (GRCm39) |
M1070I |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,462,512 (GRCm39) |
I889K |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,714,651 (GRCm39) |
T1046M |
probably damaging |
Het |
| Zfp978 |
A |
G |
4: 147,475,317 (GRCm39) |
N288S |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,683 (GRCm39) |
K247M |
probably damaging |
Het |
|
| Other mutations in Cyp4a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02330:Cyp4a14
|
APN |
4 |
115,352,224 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation