Incidental Mutation 'IGL01539:Cyp4a14'
| ID |
90106 |
| 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 # |
IGL01539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115343397-115353339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115344374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 497
(N497S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030487]
|
| AlphaFold |
O35728 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030487
AA Change: N497S
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
AA Change: N497S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
503 |
5.4e-129 |
PFAM |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
| Eif3b |
T |
C |
5: 140,416,008 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
| Ina |
A |
G |
19: 47,003,903 (GRCm39) |
E237G |
probably damaging |
Het |
| Lmx1b |
T |
C |
2: 33,529,510 (GRCm39) |
D83G |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
| Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
| Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
| Pde1b |
A |
T |
15: 103,433,772 (GRCm39) |
|
probably benign |
Het |
| Rab29 |
G |
A |
1: 131,798,445 (GRCm39) |
R75Q |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
| Spart |
A |
G |
3: 55,024,723 (GRCm39) |
D106G |
possibly damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
| Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,041,198 (GRCm39) |
S135P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,043,993 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
| Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation