Incidental Mutation 'R6563:Cyp4a14'
| ID |
522527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a14
|
| Ensembl Gene |
ENSMUSG00000028715 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 14 |
| Synonyms |
|
| MMRRC Submission |
044687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115486200-115496142 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115492086 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 259
(H259L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030487]
|
| AlphaFold |
O35728 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030487
AA Change: H259L
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
AA Change: H259L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410131K14Rik |
T |
C |
5: 118,258,982 (GRCm38) |
V92A |
possibly damaging |
Het |
| Arhgap11a |
A |
T |
2: 113,833,902 (GRCm38) |
C679S |
probably benign |
Het |
| Atg4d |
C |
T |
9: 21,268,460 (GRCm38) |
L235F |
possibly damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,371,912 (GRCm38) |
W174R |
probably damaging |
Het |
| Dennd3 |
A |
T |
15: 73,544,380 (GRCm38) |
H493L |
probably damaging |
Het |
| Diexf |
C |
A |
1: 193,118,390 (GRCm38) |
R374L |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,312,726 (GRCm38) |
D759V |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,856,253 (GRCm38) |
N443K |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,120,819 (GRCm38) |
V2156A |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,085,264 (GRCm38) |
G356S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,623,778 (GRCm38) |
D523G |
probably damaging |
Het |
| Fam83c |
A |
G |
2: 155,830,952 (GRCm38) |
V295A |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,680,396 (GRCm38) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,288,407 (GRCm38) |
N696I |
probably damaging |
Het |
| Kmt5c |
A |
G |
7: 4,742,629 (GRCm38) |
Y96C |
probably damaging |
Het |
| Krt77 |
G |
T |
15: 101,862,923 (GRCm38) |
T315N |
probably damaging |
Het |
| L3mbtl3 |
A |
C |
10: 26,302,863 (GRCm38) |
|
probably null |
Het |
| Lama3 |
A |
T |
18: 12,537,766 (GRCm38) |
Y2409F |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,486,395 (GRCm38) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,309,063 (GRCm38) |
N1273K |
probably damaging |
Het |
| Mfsd13b |
G |
A |
7: 120,995,467 (GRCm38) |
A321T |
probably damaging |
Het |
| Mvb12b |
A |
T |
2: 33,825,116 (GRCm38) |
H167Q |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,517,146 (GRCm38) |
N230Y |
possibly damaging |
Het |
| Olfr57 |
A |
T |
10: 79,035,217 (GRCm38) |
R140S |
possibly damaging |
Het |
| Prkar2b |
G |
T |
12: 31,993,786 (GRCm38) |
|
probably null |
Het |
| Pwwp2a |
G |
T |
11: 43,705,765 (GRCm38) |
A586S |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 29,095,492 (GRCm38) |
V1150A |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,205,943 (GRCm38) |
|
probably null |
Het |
| Slk |
T |
C |
19: 47,636,469 (GRCm38) |
|
probably null |
Het |
| Snx3 |
A |
G |
10: 42,526,036 (GRCm38) |
E82G |
possibly damaging |
Het |
| Srcin1 |
A |
T |
11: 97,534,774 (GRCm38) |
Y486N |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,929,087 (GRCm38) |
E336G |
probably benign |
Het |
| Terf2ip |
G |
T |
8: 112,018,202 (GRCm38) |
V384F |
probably damaging |
Het |
| Tnn |
T |
A |
1: 160,088,398 (GRCm38) |
S1250C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,777,159 (GRCm38) |
E1263G |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,825,661 (GRCm38) |
R932G |
possibly damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,808,605 (GRCm38) |
I199T |
possibly damaging |
Het |
| Vmn1r225 |
C |
T |
17: 20,502,501 (GRCm38) |
A68V |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,804,178 (GRCm38) |
N448Y |
possibly damaging |
Het |
|
| Other mutations in Cyp4a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Cyp4a14
|
APN |
4 |
115,489,952 (GRCm38) |
splice site |
probably benign |
|
|
IGL01539:Cyp4a14
|
APN |
4 |
115,487,177 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01802:Cyp4a14
|
APN |
4 |
115,494,937 (GRCm38) |
nonsense |
probably null |
|
|
IGL02309:Cyp4a14
|
APN |
4 |
115,491,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02330:Cyp4a14
|
APN |
4 |
115,495,027 (GRCm38) |
splice site |
probably benign |
|
|
IGL03302:Cyp4a14
|
APN |
4 |
115,491,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1037:Cyp4a14
|
UTSW |
4 |
115,489,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1236:Cyp4a14
|
UTSW |
4 |
115,492,170 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2132:Cyp4a14
|
UTSW |
4 |
115,491,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2133:Cyp4a14
|
UTSW |
4 |
115,491,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2870:Cyp4a14
|
UTSW |
4 |
115,487,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2870:Cyp4a14
|
UTSW |
4 |
115,487,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2871:Cyp4a14
|
UTSW |
4 |
115,487,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2871:Cyp4a14
|
UTSW |
4 |
115,487,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2872:Cyp4a14
|
UTSW |
4 |
115,487,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2872:Cyp4a14
|
UTSW |
4 |
115,487,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2873:Cyp4a14
|
UTSW |
4 |
115,487,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4015:Cyp4a14
|
UTSW |
4 |
115,491,134 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4925:Cyp4a14
|
UTSW |
4 |
115,495,936 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5104:Cyp4a14
|
UTSW |
4 |
115,495,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5135:Cyp4a14
|
UTSW |
4 |
115,489,960 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5150:Cyp4a14
|
UTSW |
4 |
115,493,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5930:Cyp4a14
|
UTSW |
4 |
115,491,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5997:Cyp4a14
|
UTSW |
4 |
115,496,100 (GRCm38) |
nonsense |
probably null |
|
|
R6269:Cyp4a14
|
UTSW |
4 |
115,491,131 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6354:Cyp4a14
|
UTSW |
4 |
115,487,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6377:Cyp4a14
|
UTSW |
4 |
115,496,083 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6534:Cyp4a14
|
UTSW |
4 |
115,489,959 (GRCm38) |
splice site |
probably null |
|
|
R6751:Cyp4a14
|
UTSW |
4 |
115,491,194 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7039:Cyp4a14
|
UTSW |
4 |
115,491,081 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7125:Cyp4a14
|
UTSW |
4 |
115,491,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7379:Cyp4a14
|
UTSW |
4 |
115,493,710 (GRCm38) |
splice site |
probably null |
|
|
R7544:Cyp4a14
|
UTSW |
4 |
115,491,086 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7591:Cyp4a14
|
UTSW |
4 |
115,489,960 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7740:Cyp4a14
|
UTSW |
4 |
115,493,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7741:Cyp4a14
|
UTSW |
4 |
115,489,959 (GRCm38) |
splice site |
probably null |
|
|
R7753:Cyp4a14
|
UTSW |
4 |
115,493,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7789:Cyp4a14
|
UTSW |
4 |
115,494,910 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8064:Cyp4a14
|
UTSW |
4 |
115,494,958 (GRCm38) |
missense |
probably benign |
|
|
R8311:Cyp4a14
|
UTSW |
4 |
115,491,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8458:Cyp4a14
|
UTSW |
4 |
115,495,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8868:Cyp4a14
|
UTSW |
4 |
115,491,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9039:Cyp4a14
|
UTSW |
4 |
115,487,264 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9632:Cyp4a14
|
UTSW |
4 |
115,492,150 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9710:Cyp4a14
|
UTSW |
4 |
115,492,150 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Cyp4a14
|
UTSW |
4 |
115,490,017 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Cyp4a14
|
UTSW |
4 |
115,491,453 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCACCAATCTAGTAAAGCTGG -3'
(R):5'- GGTAAGCCACCCTAATCTCCAG -3'
Sequencing Primer
(F):5'- CACCAATCTAGTAAAGCTGGTGGTG -3'
(R):5'- AGCCACCCTAATCTCCAGTATATTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation