Mutagenetix > Incidental Mutation

Incidental Mutation 'R7479:Cyp2c69'

579706

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c69

Ensembl Gene

ENSMUSG00000092008

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 69

Synonyms

AI098658

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39842660-39886769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39881557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 74 (I74V)

Ref Sequence

ENSEMBL: ENSMUSP00000132832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168838]

AlphaFold

E9PXC3

Predicted Effect

probably benign
Transcript: ENSMUST00000168838
AA Change: I74V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: I74V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	7e-152	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,578,493	M81L	probably benign	Het
Ano9	T	C	7: 141,102,435	T667A	probably damaging	Het
Anpep	T	A	7: 79,835,370	I623F	probably benign	Het
Apba2	T	C	7: 64,739,859	I501T	possibly damaging	Het
Ascc3	T	A	10: 50,649,799	Y536N	probably damaging	Het
B4galt1	T	C	4: 40,823,587	Y168C	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C2	A	G	17: 34,863,465	C647R	probably damaging	Het
Cnot4	G	A	6: 35,024,148	T604I	probably benign	Het
Col11a1	C	T	3: 114,102,569	T506I	unknown	Het
Cr2	A	C	1: 195,158,410		probably null	Het
Ctsm	A	T	13: 61,537,755	V281D	probably damaging	Het
Dennd4c	T	A	4: 86,799,353	V529D	probably damaging	Het
Dlgap3	C	A	4: 127,194,625	H5N	possibly damaging	Het
Dusp10	C	A	1: 184,037,420	H194Q	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Eln	C	G	5: 134,707,575	G753A	unknown	Het
Emb	T	A	13: 117,249,426	N118K	possibly damaging	Het
Fam184a	C	T	10: 53,655,014	V755I	probably benign	Het
Fryl	A	G	5: 73,097,561	I846T	possibly damaging	Het
Gabbr2	T	A	4: 46,681,166	I722F	probably damaging	Het
Gabrb3	T	A	7: 57,824,423	D362E	possibly damaging	Het
Galnt2	G	A	8: 124,334,338	G357D	probably damaging	Het
Gbx2	A	T	1: 89,930,651	S35R	probably benign	Het
Glg1	A	G	8: 111,197,735	I207T	possibly damaging	Het
Gm10192	A	T	4: 97,183,035	N44K	unknown	Het
Gpd1	A	G	15: 99,720,103	D123G	probably benign	Het
Grm2	A	T	9: 106,653,851	D146E	possibly damaging	Het
Gsg1l2	A	G	11: 67,785,206	D132G	probably benign	Het
Hecw1	C	T	13: 14,340,840	G236R	probably damaging	Het
Hif3a	G	A	7: 17,042,635	T462I	possibly damaging	Het
Hspg2	C	T	4: 137,539,403	A1934V	probably benign	Het
Il7r	C	T	15: 9,513,031	A131T	probably damaging	Het
Itga6	C	T	2: 71,838,336	R540*	probably null	Het
Kcnh2	A	G	5: 24,325,492		probably null	Het
Kcnq4	C	T	4: 120,715,825	A260T	probably damaging	Het
Lrp1b	T	C	2: 40,801,505	N3434S		Het
Lrrc41	C	T	4: 116,089,041	P318S	probably damaging	Het
Map4	G	A	9: 110,068,824	G873R	possibly damaging	Het
Med24	A	G	11: 98,704,961	I968T	possibly damaging	Het
Mfap5	T	C	6: 122,526,862		probably null	Het
Mtcl1	A	G	17: 66,379,490	V807A	probably benign	Het
Mug1	T	A	6: 121,878,508	S934T	possibly damaging	Het
Nckap5l	C	A	15: 99,423,246	V1218F	probably damaging	Het
Nek1	T	A	8: 61,130,145	D1272E	probably benign	Het
Nkx2-4	T	C	2: 147,084,168	E258G	probably benign	Het
Polr1a	T	A	6: 71,936,297	V545E	probably damaging	Het
Ppp1r9b	A	G	11: 94,992,032	D162G	possibly damaging	Het
Rhot2	A	G	17: 25,840,749	L367P	probably damaging	Het
Ripk2	A	G	4: 16,155,154	F122L	probably benign	Het
Scn11a	T	C	9: 119,759,875	T1322A	probably benign	Het
Scn8a	T	A	15: 100,955,477	L115Q	probably damaging	Het
Sel1l3	G	T	5: 53,117,120	P1006Q	probably damaging	Het
Sept11	A	T	5: 93,156,945	N207I	probably damaging	Het
Sez6l2	C	T	7: 126,963,659	T669I	probably damaging	Het
Sfxn4	T	A	19: 60,858,674	D57V	possibly damaging	Het
Smarca2	T	A	19: 26,640,487	V306D	probably benign	Het
Srgap3	C	T	6: 112,735,833		probably null	Het
Tas2r134	T	C	2: 51,627,529	F7L	not run	Het
Tbcd	T	C	11: 121,492,605		probably null	Het
Tcn2	G	A	11: 3,917,703	A413V	probably damaging	Het
Tdp1	T	C	12: 99,891,395	V71A	probably benign	Het
Tjp1	T	C	7: 65,301,180	T1649A	probably damaging	Het
Tnc	T	C	4: 64,017,628	E357G	possibly damaging	Het
Tnrc6b	A	G	15: 80,889,126	T1158A	probably benign	Het
Ttn	C	A	2: 76,738,608	E27314*	probably null	Het
Vps35	G	T	8: 85,270,805	T512K	probably benign	Het
Zfp40	A	T	17: 23,177,318	S98R	probably benign	Het
Zfp945	A	T	17: 22,851,366	C541S	possibly damaging	Het
Zfp976	T	A	7: 42,613,179	E412D	probably benign	Het

Other mutations in Cyp2c69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01873:Cyp2c69	APN	19	39881249	splice site	probably benign
IGL02127:Cyp2c69	APN	19	39851057	missense	probably damaging	0.99
IGL02945:Cyp2c69	APN	19	39886647	missense	possibly damaging	0.81
IGL03067:Cyp2c69	APN	19	39881093	missense	probably benign	0.29
IGL03069:Cyp2c69	APN	19	39881093	missense	probably benign	0.29
BB007:Cyp2c69	UTSW	19	39842990	missense	possibly damaging	0.47
BB017:Cyp2c69	UTSW	19	39842990	missense	possibly damaging	0.47
R0545:Cyp2c69	UTSW	19	39886661	missense	probably damaging	1.00
R1276:Cyp2c69	UTSW	19	39876224	missense	possibly damaging	0.47
R1468:Cyp2c69	UTSW	19	39849395	missense	probably damaging	1.00
R1468:Cyp2c69	UTSW	19	39849395	missense	probably damaging	1.00
R1534:Cyp2c69	UTSW	19	39851149	missense	probably benign
R1549:Cyp2c69	UTSW	19	39842986	missense	probably benign	0.11
R1703:Cyp2c69	UTSW	19	39876366	missense	probably benign	0.10
R1752:Cyp2c69	UTSW	19	39881153	missense	probably damaging	1.00
R1769:Cyp2c69	UTSW	19	39876371	missense	probably benign	0.00
R1843:Cyp2c69	UTSW	19	39877528	missense	probably benign	0.27
R1938:Cyp2c69	UTSW	19	39849366	missense	probably damaging	0.97
R2100:Cyp2c69	UTSW	19	39886686	missense	probably benign	0.11
R2366:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R2367:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R2440:Cyp2c69	UTSW	19	39876294	missense	probably benign	0.17
R2931:Cyp2c69	UTSW	19	39849483	missense	probably damaging	1.00
R3709:Cyp2c69	UTSW	19	39851223	splice site	probably benign
R3793:Cyp2c69	UTSW	19	39881156	missense	probably benign	0.44
R3898:Cyp2c69	UTSW	19	39876390	missense	probably benign	0.00
R4579:Cyp2c69	UTSW	19	39881186	missense	possibly damaging	0.89
R4707:Cyp2c69	UTSW	19	39849408	missense	probably benign	0.39
R4778:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R4779:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R4780:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R4838:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R4877:Cyp2c69	UTSW	19	39877612	missense	probably damaging	1.00
R5488:Cyp2c69	UTSW	19	39851159	missense	probably null	0.94
R5489:Cyp2c69	UTSW	19	39851159	missense	probably null	0.94
R6083:Cyp2c69	UTSW	19	39849456	missense	probably damaging	1.00
R6278:Cyp2c69	UTSW	19	39843063	nonsense	probably null
R6415:Cyp2c69	UTSW	19	39842921	missense	probably benign	0.44
R6732:Cyp2c69	UTSW	19	39881499	missense	probably benign
R6858:Cyp2c69	UTSW	19	39877565	missense	probably benign	0.19
R7023:Cyp2c69	UTSW	19	39877542	missense	probably benign	0.43
R7227:Cyp2c69	UTSW	19	39881166	missense	possibly damaging	0.77
R7228:Cyp2c69	UTSW	19	39881166	missense	possibly damaging	0.77
R7260:Cyp2c69	UTSW	19	39842900	missense	probably benign	0.00
R7262:Cyp2c69	UTSW	19	39886732	start gained	probably benign
R7570:Cyp2c69	UTSW	19	39859898	missense	probably damaging	1.00
R7663:Cyp2c69	UTSW	19	39877509	nonsense	probably null
R7785:Cyp2c69	UTSW	19	39851166	missense	probably damaging	1.00
R7795:Cyp2c69	UTSW	19	39876219	missense	probably benign
R7920:Cyp2c69	UTSW	19	39877803	splice site	probably null
R7930:Cyp2c69	UTSW	19	39842990	missense	possibly damaging	0.47
R8203:Cyp2c69	UTSW	19	39881140	missense	probably damaging	1.00
R8888:Cyp2c69	UTSW	19	39881466	missense	possibly damaging	0.65
R8895:Cyp2c69	UTSW	19	39881466	missense	possibly damaging	0.65
R9530:Cyp2c69	UTSW	19	39859867	missense	possibly damaging	0.82
R9645:Cyp2c69	UTSW	19	39881149	missense	probably damaging	1.00
R9665:Cyp2c69	UTSW	19	39851060	missense	possibly damaging	0.73
R9753:Cyp2c69	UTSW	19	39877547	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- AGCAAGCATGACCTCTACTC -3'
(R):5'- AGACTTTAAACTGGGGTTTTCTGAC -3'

Sequencing Primer
(F):5'- AGCTTGCTCTGGAAACTGC -3'
(R):5'- ACTGGGGTTTTCTGACTAAAAATATC -3'

Posted On

2019-10-07