Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Cyp2c29'

547031

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c29

Ensembl Gene

ENSMUSG00000003053

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 29

Synonyms

Ah-2, Cyp2c, P450-2C, Ahh-1, AHOHase, AHOH

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39269405-39330713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39330337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 420 (K420N)

Ref Sequence

ENSEMBL: ENSMUSP00000135863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003137] [ENSMUST00000176624] [ENSMUST00000177087]

AlphaFold

Q64458

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003137
AA Change: K459N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: K459N

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:p450	30	487	5.4e-165	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176624
AA Change: K420N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: K420N

Domain	Start	End	E-Value	Type
Pfam:p450	12	448	2.7e-156	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177087

SMART Domains

Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:p450	30	118	8.4e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably damaging	Het

Other mutations in Cyp2c29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cyp2c29	APN	19	39321699	splice site	probably benign
IGL00482:Cyp2c29	APN	19	39325023	missense	probably damaging	0.97
IGL00694:Cyp2c29	APN	19	39321635	missense	possibly damaging	0.64
IGL00836:Cyp2c29	APN	19	39324990	missense	probably damaging	0.98
IGL00858:Cyp2c29	APN	19	39307656	missense	probably damaging	1.00
IGL01350:Cyp2c29	APN	19	39330327	missense	probably damaging	1.00
IGL01455:Cyp2c29	APN	19	39329117	missense	possibly damaging	0.89
IGL01718:Cyp2c29	APN	19	39330260	missense	possibly damaging	0.48
IGL01977:Cyp2c29	APN	19	39290897	splice site	probably benign
IGL01991:Cyp2c29	APN	19	39330315	missense	probably damaging	1.00
IGL02097:Cyp2c29	APN	19	39307620	missense	probably damaging	1.00
IGL02267:Cyp2c29	APN	19	39330422	missense	probably benign	0.19
IGL02451:Cyp2c29	APN	19	39290847	missense	possibly damaging	0.66
IGL02452:Cyp2c29	APN	19	39290847	missense	possibly damaging	0.66
IGL02548:Cyp2c29	APN	19	39290847	missense	possibly damaging	0.66
IGL02549:Cyp2c29	APN	19	39309785	missense	possibly damaging	0.48
IGL02938:Cyp2c29	APN	19	39287123	missense	probably damaging	0.99
IGL03252:Cyp2c29	APN	19	39287175	missense	probably damaging	1.00
IGL03367:Cyp2c29	APN	19	39329215	missense	probably damaging	0.97
H8562:Cyp2c29	UTSW	19	39309662	missense	probably damaging	1.00
IGL03052:Cyp2c29	UTSW	19	39287218	missense	possibly damaging	0.90
R0415:Cyp2c29	UTSW	19	39329095	splice site	probably benign
R0504:Cyp2c29	UTSW	19	39309780	missense	probably benign	0.29
R0690:Cyp2c29	UTSW	19	39309726	missense	probably benign	0.00
R1531:Cyp2c29	UTSW	19	39324968	missense	probably damaging	1.00
R1730:Cyp2c29	UTSW	19	39324945	missense	possibly damaging	0.79
R1981:Cyp2c29	UTSW	19	39307772	splice site	probably null
R2113:Cyp2c29	UTSW	19	39330264	missense	probably damaging	1.00
R2220:Cyp2c29	UTSW	19	39287232	missense	probably benign	0.09
R3873:Cyp2c29	UTSW	19	39329144	missense	probably damaging	0.99
R4424:Cyp2c29	UTSW	19	39287176	missense	probably damaging	0.98
R4451:Cyp2c29	UTSW	19	39290826	missense	probably damaging	0.99
R4803:Cyp2c29	UTSW	19	39324995	missense	probably benign	0.01
R5288:Cyp2c29	UTSW	19	39330372	missense	probably damaging	0.96
R5474:Cyp2c29	UTSW	19	39324992	missense	probably damaging	1.00
R5475:Cyp2c29	UTSW	19	39330287	missense	possibly damaging	0.91
R5893:Cyp2c29	UTSW	19	39330389	missense	possibly damaging	0.93
R5894:Cyp2c29	UTSW	19	39330389	missense	possibly damaging	0.93
R6000:Cyp2c29	UTSW	19	39307606	critical splice acceptor site	probably null
R6144:Cyp2c29	UTSW	19	39321609	missense	possibly damaging	0.96
R6296:Cyp2c29	UTSW	19	39330261	missense	possibly damaging	0.64
R6365:Cyp2c29	UTSW	19	39307754	missense	probably damaging	1.00
R6449:Cyp2c29	UTSW	19	39290867	missense	probably benign	0.05
R6464:Cyp2c29	UTSW	19	39329225	missense	probably damaging	0.96
R6919:Cyp2c29	UTSW	19	39291141	missense	probably benign	0.26
R6978:Cyp2c29	UTSW	19	39321663	missense	probably damaging	1.00
R7038:Cyp2c29	UTSW	19	39287127	missense	probably benign	0.01
R7391:Cyp2c29	UTSW	19	39307767	missense	probably null	0.98
R8712:Cyp2c29	UTSW	19	39321694	critical splice donor site	probably benign
R8863:Cyp2c29	UTSW	19	39273366	missense	probably benign	0.00
R9468:Cyp2c29	UTSW	19	39307722	missense	probably benign	0.07
X0024:Cyp2c29	UTSW	19	39321599	missense	probably benign	0.01
Z1176:Cyp2c29	UTSW	19	39324997	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTCAGCCATCCATCTAATCACCT -3'
(R):5'- AAGCCAGGATGAAAGATACCAT -3'

Sequencing Primer
(F):5'- GCCATCCATCTAATCACCTATACAC -3'
(R):5'- AGGATGAAAGATACCATATCCCTG -3'

Posted On

2019-05-13