Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:Cyp4a14'

597352

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a14

Ensembl Gene

ENSMUSG00000028715

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 14

Synonyms

MMRRC Submission

045809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115343397-115353339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115350861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 138 (Q138K)

Ref Sequence

ENSEMBL: ENSMUSP00000030487 (fasta)

Gene Model

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

AlphaFold

O35728

Predicted Effect

probably damaging
Transcript: ENSMUST00000030487
AA Change: Q138K

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

SMART Domains

Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
AA Change: Q138K

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,074,933 (GRCm39)	T1377A	probably damaging	Het
AI661453	G	T	17: 47,778,439 (GRCm39)	E722*	probably null	Het
Ap2b1	A	T	11: 83,258,733 (GRCm39)	K735*	probably null	Het
Aqp4	T	C	18: 15,533,033 (GRCm39)	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,729,440 (GRCm39)	V117L	probably benign	Het
C1rb	A	G	6: 124,557,390 (GRCm39)	N509S	probably benign	Het
Cep44	A	G	8: 56,985,842 (GRCm39)	V350A	probably benign	Het
Cmya5	T	C	13: 93,234,680 (GRCm39)	Q136R	probably benign	Het
Cntrl	T	C	2: 35,001,691 (GRCm39)	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,441,164 (GRCm39)	E201V	possibly damaging	Het
Dapk1	T	C	13: 60,899,007 (GRCm39)	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,061,448 (GRCm39)	D294G	probably benign	Het
Ddx10	A	T	9: 53,136,904 (GRCm39)	L336Q	probably damaging	Het
Dop1a	A	G	9: 86,371,755 (GRCm39)	T149A	possibly damaging	Het
Epg5	A	G	18: 77,991,560 (GRCm39)	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,179,354 (GRCm39)	Q60L	probably damaging	Het
Farsb	T	A	1: 78,456,740 (GRCm39)	E41D	probably benign	Het
Frem1	T	C	4: 82,832,217 (GRCm39)	D1956G	probably benign	Het
Fzd4	T	A	7: 89,056,992 (GRCm39)	Y346*	probably null	Het
Fzd7	A	T	1: 59,522,641 (GRCm39)	S175C	probably benign	Het
Gdi2	A	G	13: 3,598,956 (GRCm39)	T47A	probably benign	Het
Gpr155	A	T	2: 73,212,550 (GRCm39)	H24Q	probably benign	Het
Hdac7	A	T	15: 97,698,642 (GRCm39)	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,704,369 (GRCm39)	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,802,336 (GRCm39)	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,417,519 (GRCm39)	R223*	probably null	Het
Igkv4-91	T	G	6: 68,745,761 (GRCm39)	S46R	probably benign	Het
Itk	T	A	11: 46,222,722 (GRCm39)	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,481,218 (GRCm39)	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 141,729,136 (GRCm39)		probably benign	Het
Lce1m	C	A	3: 92,925,815 (GRCm39)	G41W	unknown	Het
Mapk10	T	A	5: 103,186,419 (GRCm39)	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,345,856 (GRCm39)	E812G	probably damaging	Het
Mlh1	C	A	9: 111,081,931 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,317,475 (GRCm39)	D784G	possibly damaging	Het
Neo1	A	T	9: 58,863,288 (GRCm39)	D426E	probably benign	Het
Nol4	T	A	18: 23,171,659 (GRCm39)	M1L	probably benign	Het
Nr1h3	A	G	2: 91,015,370 (GRCm39)	F338S	probably damaging	Het
Oasl2	A	G	5: 115,043,118 (GRCm39)	K297E	probably benign	Het
Or10ag59	A	G	2: 87,406,141 (GRCm39)	T238A	probably benign	Het
Or10z1	C	T	1: 174,078,236 (GRCm39)	V86I	probably benign	Het
Or4f14	A	G	2: 111,742,927 (GRCm39)	I116T	probably benign	Het
Or56a5	T	C	7: 104,793,007 (GRCm39)	I164M	probably benign	Het
Or5m5	A	G	2: 85,815,060 (GRCm39)	N292S	possibly damaging	Het
Osbpl9	T	C	4: 108,990,970 (GRCm39)	T97A	possibly damaging	Het
P3h2	A	T	16: 25,789,687 (GRCm39)	Y527N	probably damaging	Het
Papss2	A	T	19: 32,597,579 (GRCm39)	H9L	probably benign	Het
Pcdha4	C	A	18: 37,086,354 (GRCm39)	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,730,131 (GRCm39)	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,357,425 (GRCm39)	Q345L	possibly damaging	Het
Prr14l	G	T	5: 32,984,597 (GRCm39)	L1633I	probably damaging	Het
Prss51	T	A	14: 64,333,376 (GRCm39)	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,347,868 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Slc2a7	T	C	4: 150,239,141 (GRCm39)	I122T	possibly damaging	Het
Spata31e4	A	T	13: 50,855,817 (GRCm39)	D485V	probably damaging	Het
Sprr3	G	A	3: 92,364,415 (GRCm39)	P143L	probably benign	Het
Sugct	A	T	13: 17,752,104 (GRCm39)	S181T	possibly damaging	Het
Syne2	G	A	12: 76,085,697 (GRCm39)	R141Q	probably benign	Het
Taok1	T	C	11: 77,428,725 (GRCm39)	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,269,306 (GRCm39)		probably null	Het
Thada	T	C	17: 84,559,818 (GRCm39)	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,852,156 (GRCm39)	L104S	probably damaging	Het
Tln2	T	G	9: 67,302,755 (GRCm39)	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,705,137 (GRCm39)	E75G	probably damaging	Het
Tox3	A	G	8: 90,975,560 (GRCm39)	L357P	probably damaging	Het
Ubr4	T	C	4: 139,197,603 (GRCm39)	V4492A	unknown	Het
Ulk4	A	G	9: 121,095,578 (GRCm39)		probably null	Het
Ush2a	A	G	1: 188,175,603 (GRCm39)	T1234A	probably benign	Het
Usp53	G	A	3: 122,742,887 (GRCm39)	T683I	probably damaging	Het
Vcan	T	A	13: 89,837,442 (GRCm39)	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,399,834 (GRCm39)	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,806,663 (GRCm39)	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,213,040 (GRCm39)	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,374,895 (GRCm39)	D785G	probably benign	Het
Zfp397	A	T	18: 24,090,129 (GRCm39)	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,904,249 (GRCm39)	T1393S	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
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
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'- GTGGGAGACTCACTTTACAGC -3'
(R):5'- CACACTGGAAATCTCACTTTCTG -3'

Sequencing Primer
(F):5'- GTGGGAGACTCACTTTACAGCAATAC -3'
(R):5'- ATGATTCCAGGGGTACTC -3'

Posted On

2019-11-26