Mutagenetix > Incidental Mutation

Incidental Mutation 'R8868:Cyp4a14'

676072

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a14

Ensembl Gene

ENSMUSG00000028715

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 14

Synonyms

MMRRC Submission

068683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8868 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115343397-115353339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115348553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 337 (H337L)

Ref Sequence

ENSEMBL: ENSMUSP00000030487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030487]

AlphaFold

O35728

Predicted Effect

probably damaging
Transcript: ENSMUST00000030487
AA Change: H337L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
AA Change: H337L

Domain	Start	End	E-Value	Type
transmembrane domain	15	32	N/A	INTRINSIC
Pfam:p450	51	503	5.4e-129	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	T	A	9: 26,890,544 (GRCm39)	N255Y	probably damaging	Het
Accsl	A	C	2: 93,696,490 (GRCm39)	L36R	probably benign	Het
Acvr2a	T	A	2: 48,763,469 (GRCm39)	V171E	probably benign	Het
Adgrl3	A	G	5: 81,794,451 (GRCm39)	I491V	probably benign	Het
Ak9	G	A	10: 41,193,842 (GRCm39)		probably null	Het
Ak9	G	T	10: 41,258,869 (GRCm39)	E789*	probably null	Het
Akr1c19	T	A	13: 4,293,070 (GRCm39)	N275K	probably benign	Het
Alg1	A	G	16: 5,061,557 (GRCm39)	H398R	probably benign	Het
Apol11a	T	A	15: 77,401,209 (GRCm39)	I232N	probably damaging	Het
Cacnb2	A	G	2: 14,989,080 (GRCm39)	I437V	probably benign	Het
Catsper4	A	G	4: 133,954,417 (GRCm39)		probably null	Het
Cdhr17	G	A	5: 17,028,152 (GRCm39)	G449D	probably benign	Het
Crnn	T	C	3: 93,055,609 (GRCm39)	C132R	probably benign	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dclre1b	T	C	3: 103,710,654 (GRCm39)	N419S	probably benign	Het
Dip2c	A	G	13: 9,625,503 (GRCm39)	D621G	possibly damaging	Het
Dmwd	T	A	7: 18,814,694 (GRCm39)	L448Q	probably damaging	Het
Dnajc13	G	A	9: 104,042,987 (GRCm39)	H1922Y	probably benign	Het
E2f3	A	T	13: 30,095,301 (GRCm39)	I329N	probably damaging	Het
Eml2	G	A	7: 18,927,988 (GRCm39)	V266M	probably benign	Het
Entpd2	A	G	2: 25,289,725 (GRCm39)	T376A	probably benign	Het
Flnb	A	G	14: 7,908,671 (GRCm38)	T1350A	probably benign	Het
Fmnl2	A	G	2: 53,016,077 (GRCm39)	E999G	unknown	Het
Hivep1	A	G	13: 42,312,407 (GRCm39)	Q1549R	possibly damaging	Het
Hps6	G	A	19: 45,992,446 (GRCm39)	V128M	possibly damaging	Het
Ifi27l2a	T	C	12: 103,402,899 (GRCm39)	S66P	possibly damaging	Het
Ikbip	T	C	10: 90,932,187 (GRCm39)	V277A	possibly damaging	Het
Ints8	T	C	4: 11,230,488 (GRCm39)	E451G	probably benign	Het
Itih2	A	T	2: 10,132,600 (GRCm39)	S64T	probably benign	Het
Kcnc4	T	A	3: 107,355,452 (GRCm39)	E332V	probably damaging	Het
Krt23	T	C	11: 99,374,567 (GRCm39)		probably benign	Het
Lrpprc	C	A	17: 85,078,920 (GRCm39)	G265C	probably damaging	Het
Nav1	G	T	1: 135,512,943 (GRCm39)	A39E	probably benign	Het
Ogfod1	G	T	8: 94,773,906 (GRCm39)	D103Y	probably damaging	Het
Or7g20	T	G	9: 18,946,778 (GRCm39)	Y120D	probably damaging	Het
Or8b55	G	A	9: 38,727,285 (GRCm39)	C162Y	probably damaging	Het
Or8g37	A	G	9: 39,731,252 (GRCm39)	T106A	probably benign	Het
Ppp1r3a	A	T	6: 14,755,014 (GRCm39)	S78T	probably damaging	Het
Rnf148	A	T	6: 23,654,540 (GRCm39)	V152E	probably damaging	Het
Sdf2	A	T	11: 78,136,970 (GRCm39)	H50L	probably damaging	Het
Sec1	T	A	7: 45,328,700 (GRCm39)	M116L	probably benign	Het
Sema6d	T	C	2: 124,496,114 (GRCm39)	S53P	probably damaging	Het
Siae	A	G	9: 37,528,132 (GRCm39)	Y35C	probably damaging	Het
Slc18b1	A	T	10: 23,686,751 (GRCm39)	Y189F	probably damaging	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Spef2	T	C	15: 9,729,747 (GRCm39)	T124A	possibly damaging	Het
Strn4	G	A	7: 16,560,570 (GRCm39)	E241K	probably benign	Het
Svep1	A	G	4: 58,135,578 (GRCm39)	I510T	possibly damaging	Het
Svop	T	C	5: 114,170,854 (GRCm39)	D395G	probably damaging	Het
Tbc1d14	A	C	5: 36,728,888 (GRCm39)	S159R	probably damaging	Het
Tex50	T	A	1: 160,984,848 (GRCm39)	I131F	possibly damaging	Het
Tssk1	A	G	16: 17,712,884 (GRCm39)	K223R	probably benign	Het
Ttc3	A	G	16: 94,252,002 (GRCm39)	I1565V	probably benign	Het
Ttn	A	T	2: 76,541,938 (GRCm39)	F33683I	possibly damaging	Het
Ttn	T	C	2: 76,783,470 (GRCm39)	M887V	unknown	Het
Usp45	G	A	4: 21,815,399 (GRCm39)		probably null	Het
Wdr47	C	T	3: 108,498,841 (GRCm39)		probably benign	Het
Xirp1	A	G	9: 119,846,871 (GRCm39)	S671P	probably benign	Het
Zbtb18	A	G	1: 177,274,682 (GRCm39)	D5G	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp260	T	G	7: 29,804,914 (GRCm39)	Y271*	probably null	Het
Zfp369	T	A	13: 65,445,082 (GRCm39)	S742T	possibly damaging	Het
Zfp786	A	T	6: 47,802,015 (GRCm39)	D87E	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
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
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
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'- TACTGGTGGATAGAGCCTCAGG -3'
(R):5'- TGGCCCATAAGCACAGATGAG -3'

Sequencing Primer
(F):5'- CCTCCTTGATGCACATGGTGG -3'
(R):5'- GCACAGATGAGATACAAACTCTGTTC -3'

Posted On

2021-07-15