Incidental Mutation 'IGL03302:Cyp4a14'
ID |
416245 |
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 # |
IGL03302
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
115343397-115353339 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115348575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 330
(I330V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030487]
|
AlphaFold |
O35728 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030487
AA Change: I330V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000030487 Gene: ENSMUSG00000028715 AA Change: I330V
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,858,576 (GRCm39) |
Y542F |
possibly damaging |
Het |
Ankrd34b |
A |
T |
13: 92,576,151 (GRCm39) |
N461I |
possibly damaging |
Het |
Ccl24 |
T |
C |
5: 135,599,732 (GRCm39) |
K93E |
probably benign |
Het |
Ccr9 |
T |
A |
9: 123,608,601 (GRCm39) |
D94E |
probably damaging |
Het |
Cd79a |
G |
A |
7: 24,598,759 (GRCm39) |
V103M |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,950,521 (GRCm39) |
|
probably null |
Het |
Cul9 |
T |
C |
17: 46,837,566 (GRCm39) |
E993G |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,273,801 (GRCm39) |
D35G |
probably benign |
Het |
Dmpk |
C |
A |
7: 18,820,411 (GRCm39) |
|
probably benign |
Het |
Gcnt1 |
G |
T |
19: 17,306,547 (GRCm39) |
R393S |
probably benign |
Het |
Lctl |
C |
T |
9: 64,042,130 (GRCm39) |
|
probably benign |
Het |
Mttp |
A |
T |
3: 137,810,468 (GRCm39) |
I664N |
possibly damaging |
Het |
Myh1 |
C |
T |
11: 67,102,328 (GRCm39) |
A873V |
probably benign |
Het |
Nedd9 |
A |
G |
13: 41,492,330 (GRCm39) |
V54A |
probably damaging |
Het |
Or3a1b |
T |
G |
11: 74,012,459 (GRCm39) |
C115G |
possibly damaging |
Het |
Or4f14 |
A |
T |
2: 111,743,167 (GRCm39) |
V36E |
possibly damaging |
Het |
Or6b1 |
G |
T |
6: 42,814,937 (GRCm39) |
E41* |
probably null |
Het |
Pak6 |
A |
T |
2: 118,523,784 (GRCm39) |
E313V |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,740,698 (GRCm39) |
S402P |
probably benign |
Het |
Polq |
T |
C |
16: 36,892,134 (GRCm39) |
M2012T |
probably damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,765,788 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
A |
G |
14: 33,676,616 (GRCm39) |
H188R |
probably damaging |
Het |
Rps6ka2 |
C |
A |
17: 7,566,787 (GRCm39) |
Q682K |
possibly damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Spag4 |
A |
G |
2: 155,910,340 (GRCm39) |
Q322R |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,676,466 (GRCm39) |
T702A |
probably benign |
Het |
Spmap2l |
T |
G |
5: 77,202,423 (GRCm39) |
S281R |
probably benign |
Het |
Taf3 |
G |
T |
2: 9,956,942 (GRCm39) |
F408L |
probably damaging |
Het |
Tead2 |
T |
G |
7: 44,882,323 (GRCm39) |
Y121D |
possibly damaging |
Het |
Tmco5 |
A |
T |
2: 116,722,760 (GRCm39) |
T294S |
probably damaging |
Het |
Trim37 |
A |
G |
11: 87,037,827 (GRCm39) |
E187G |
possibly damaging |
Het |
Ubb |
T |
A |
11: 62,443,243 (GRCm39) |
L91Q |
probably damaging |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Zan |
T |
C |
5: 137,466,652 (GRCm39) |
S402G |
possibly damaging |
Het |
Zc3h7a |
T |
A |
16: 10,959,574 (GRCm39) |
H793L |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,773 (GRCm39) |
T2977I |
possibly 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 |
IGL02330:Cyp4a14
|
APN |
4 |
115,352,224 (GRCm39) |
splice site |
probably benign |
|
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 |
2016-08-02 |