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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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