Incidental Mutation 'R6534:Cyp4a14'
| ID |
520261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a14
|
| Ensembl Gene |
ENSMUSG00000028715 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 14 |
| Synonyms |
|
| MMRRC Submission |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115343397-115353339 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 115347156 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 null
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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
| Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCTCCTGAGAATGGCAG -3'
(R):5'- TGCTGTCTGTTATCACCAGGC -3'
Sequencing Primer
(F):5'- TCCTCCTGAGAATGGCAGATAAGC -3'
(R):5'- GGACCATTAGCTCTACATGATGACTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation