Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Cyp2c38'

560341

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c38

Ensembl Gene

ENSMUSG00000032808

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 38

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39389556-39463075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39401776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 327 (I327F)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035488]

AlphaFold

P56655

Predicted Effect

probably damaging
Transcript: ENSMUST00000035488
AA Change: I327F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: I327F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:p450	30	487	1.5e-161	PFAM

Meta Mutation Damage Score

0.7020

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,291,627	M1850V	probably benign	Het
4933406M09Rik	A	G	1: 134,390,468	D326G	possibly damaging	Het
Acaca	A	G	11: 84,262,474	T903A	probably benign	Het
Acin1	A	T	14: 54,664,899	S479T	possibly damaging	Het
Actr6	A	T	10: 89,712,512	D370E	probably benign	Het
Adgrl3	T	C	5: 81,724,222	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,886,824	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,273,232	Q306*	probably null	Het
Arntl	T	A	7: 113,285,142	M122K	probably damaging	Het
Art4	A	T	6: 136,854,549	V198E	probably benign	Het
Asph	G	A	4: 9,474,917	R686W	probably damaging	Het
Atg7	A	G	6: 114,777,057	H724R	probably damaging	Het
B020004J07Rik	T	A	4: 101,838,141		probably null	Het
BC034090	A	G	1: 155,241,934	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,731,586	Q45L	probably damaging	Het
Ccdc36	A	T	9: 108,404,775	D571E	probably damaging	Het
Cd28	G	T	1: 60,763,173	E84*	probably null	Het
Ceacam3	G	A	7: 17,158,238	W302*	probably null	Het
Cerkl	T	C	2: 79,333,590	N462S	probably benign	Het
Cisd2	A	T	3: 135,411,213	L39H	probably damaging	Het
Col11a1	C	A	3: 114,090,157	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,142,991	S630P	probably damaging	Het
Cyp3a25	A	C	5: 145,991,447	S263A	probably benign	Het
Cyp3a25	T	A	5: 146,003,058	L46F	probably benign	Het
D17Wsu92e	A	C	17: 27,794,070		probably null	Het
Dmrta1	T	A	4: 89,692,171	L456*	probably null	Het
Dnah12	T	C	14: 26,814,622	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,328,311	S253R	probably damaging	Het
Egln2	A	C	7: 27,160,319	I323S	probably damaging	Het
Fam171b	A	G	2: 83,878,230	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,963,397	Q276K	probably benign	Het
Fcrls	C	T	3: 87,252,627	C440Y	probably damaging	Het
Fmnl2	T	C	2: 53,073,654	V266A	unknown	Het
Glo1	A	T	17: 30,597,854	D109E	probably benign	Het
Grin3b	A	G	10: 79,974,078	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015	L425F	probably damaging	Het
Kcnq5	T	C	1: 21,402,875	E716G	possibly damaging	Het
Klra17	A	T	6: 129,873,343	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,629,897	Q37K	probably benign	Het
Ly6a	T	A	15: 74,996,476	T55S	probably benign	Het
Lyst	T	A	13: 13,709,300	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,631,351	Y140H	probably benign	Het
Mak	T	C	13: 41,051,440	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,489,172	I789T	probably benign	Het
Mrpl4	T	C	9: 21,007,338	I123T	probably benign	Het
Mup18	G	C	4: 61,673,336		probably null	Het
Myef2	T	C	2: 125,096,162		probably null	Het
Myh7	T	C	14: 54,990,945	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,715,459	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,830,895	Y85*	probably null	Het
Nyap1	A	T	5: 137,736,262	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,094		probably benign	Het
Olfr392	A	G	11: 73,814,341	V247A	probably benign	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr718-ps1	A	G	5: 143,137,798	Y157H	probably damaging	Het
Papss1	T	C	3: 131,599,926	L244P	probably damaging	Het
Pibf1	A	T	14: 99,196,408	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,737,179	M1K	probably null	Het
Ppwd1	G	A	13: 104,207,172	P575L	probably damaging	Het
Prc1	A	G	7: 80,311,089	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,316,306	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,698,803	I1014V	probably benign	Het
Rab3gap2	A	G	1: 185,267,191	Y999C	probably damaging	Het
Robo3	G	A	9: 37,424,330	Q539*	probably null	Het
Rps12	A	G	10: 23,785,231	Y127H	probably benign	Het
Sar1b	A	G	11: 51,788,252	D116G	probably benign	Het
Selenbp2	C	T	3: 94,702,357	P294L	probably benign	Het
Slc6a2	T	C	8: 92,995,672	Y516H	probably damaging	Het
Slit2	A	G	5: 48,237,285	N673S	probably null	Het
Snap91	A	T	9: 86,790,146		probably null	Het
Srpk2	A	G	5: 23,507,628	F653L	possibly damaging	Het
Supt5	A	T	7: 28,316,788	S824T	probably benign	Het
Taar7a	A	G	10: 23,992,460	V341A	probably benign	Het
Tmem52	G	A	4: 155,470,321	G134R	probably damaging	Het
Ush2a	A	G	1: 188,874,754	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 85,022,855		probably null	Het
Vmn1r173	A	T	7: 23,702,158		probably benign	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vwce	A	G	19: 10,638,115	E120G	possibly damaging	Het
Zfp143	T	C	7: 110,093,080	V566A	possibly damaging	Het

Other mutations in Cyp2c38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Cyp2c38	APN	19	39460725	nonsense	probably null
IGL01109:Cyp2c38	APN	19	39462885	critical splice donor site	probably null
IGL01521:Cyp2c38	APN	19	39460670	missense	probably damaging	0.99
IGL02036:Cyp2c38	APN	19	39460316	missense	probably null	0.97
IGL02187:Cyp2c38	APN	19	39436205	missense	probably benign	0.14
IGL02954:Cyp2c38	APN	19	39391076	missense	probably damaging	0.99
R0479:Cyp2c38	UTSW	19	39463005	missense	probably damaging	0.99
R0684:Cyp2c38	UTSW	19	39391056	missense	probably damaging	0.99
R0919:Cyp2c38	UTSW	19	39404669	missense	probably benign	0.07
R1462:Cyp2c38	UTSW	19	39392188	missense	probably damaging	0.96
R1462:Cyp2c38	UTSW	19	39392188	missense	probably damaging	0.96
R1642:Cyp2c38	UTSW	19	39401709	missense	probably damaging	1.00
R1715:Cyp2c38	UTSW	19	39404795	missense	probably benign	0.25
R1900:Cyp2c38	UTSW	19	39438312	missense	probably benign	0.40
R1954:Cyp2c38	UTSW	19	39404687	missense	probably damaging	0.99
R1955:Cyp2c38	UTSW	19	39404687	missense	probably damaging	0.99
R2860:Cyp2c38	UTSW	19	39460694	missense	probably benign	0.01
R2861:Cyp2c38	UTSW	19	39460694	missense	probably benign	0.01
R2862:Cyp2c38	UTSW	19	39460694	missense	probably benign	0.01
R3084:Cyp2c38	UTSW	19	39401701	missense	probably benign	0.00
R3727:Cyp2c38	UTSW	19	39392295	splice site	probably benign
R4648:Cyp2c38	UTSW	19	39460688	missense	probably benign	0.05
R5119:Cyp2c38	UTSW	19	39460621	missense	probably damaging	1.00
R5636:Cyp2c38	UTSW	19	39438306	nonsense	probably null
R5651:Cyp2c38	UTSW	19	39460712	missense	probably damaging	0.99
R6263:Cyp2c38	UTSW	19	39392215	missense	probably damaging	1.00
R6384:Cyp2c38	UTSW	19	39392293	splice site	probably null
R6853:Cyp2c38	UTSW	19	39438304	missense	probably benign	0.02
R6915:Cyp2c38	UTSW	19	39436068	missense	probably damaging	0.99
R7570:Cyp2c38	UTSW	19	39404743	missense	possibly damaging	0.76
R7625:Cyp2c38	UTSW	19	39462924	missense	possibly damaging	0.78
R7666:Cyp2c38	UTSW	19	39438242	missense	possibly damaging	0.52
R8681:Cyp2c38	UTSW	19	39401691	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CAAGCTTACCTTGGGGATGATG -3'
(R):5'- ACACTGTATTTGCTGTTATGGCTAC -3'

Sequencing Primer
(F):5'- CTTACCTTGGGGATGATGTAGTTTC -3'
(R):5'- ATTGCGTTGTGTATAGCCT -3'

Posted On

2019-06-26