Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Cyp2c38'

539320

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c38

Ensembl Gene

ENSMUSG00000032808

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 38

Synonyms

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6915 (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 39436068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 269 (I269F)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

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

AlphaFold

P56655

Predicted Effect

probably damaging
Transcript: ENSMUST00000035488
AA Change: I269F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: I269F

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

0.2048

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,455,620 (GRCm38)	L334I	probably damaging	Het
Akap9	T	A	5: 3,960,551 (GRCm38)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,888,451 (GRCm38)	F314V	probably null	Het
Arid5b	G	A	10: 68,186,212 (GRCm38)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,358,914 (GRCm38)	L778*	probably null	Het
BC024139	G	T	15: 76,120,021 (GRCm38)	N739K	probably benign	Het
Carns1	T	G	19: 4,169,913 (GRCm38)	H441P	probably benign	Het
Cfap70	T	A	14: 20,409,085 (GRCm38)	I693F	probably benign	Het
Cldn3	A	G	5: 134,986,572 (GRCm38)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,967,618 (GRCm38)	P1608L	probably benign	Het
Cr2	T	A	1: 195,171,146 (GRCm38)	Y28F	probably benign	Het
Dapk1	A	T	13: 60,696,442 (GRCm38)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,852,489 (GRCm38)	L292*	probably null	Het
Dhx38	T	C	8: 109,559,599 (GRCm38)	E353G	probably benign	Het
Dnm3	T	C	1: 162,318,397 (GRCm38)		probably null	Het
Dzip3	T	C	16: 48,942,125 (GRCm38)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,502,750 (GRCm38)	V351D	possibly damaging	Het
Epg5	T	A	18: 77,979,165 (GRCm38)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,921,453 (GRCm38)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,377,748 (GRCm38)	V160F	probably benign	Het
Gak	A	T	5: 108,602,950 (GRCm38)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,383,119 (GRCm38)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Gm6583	A	T	5: 112,354,657 (GRCm38)	W394R	probably damaging	Het
Havcr2	C	T	11: 46,475,911 (GRCm38)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,401,932 (GRCm38)	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,682,878 (GRCm38)	G200S	probably damaging	Het
Klhl20	T	C	1: 161,093,696 (GRCm38)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,055,953 (GRCm38)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,584,893 (GRCm38)	N26D	probably damaging	Het
Lyst	T	A	13: 13,726,044 (GRCm38)	D3168E	probably benign	Het
Map6	G	A	7: 99,268,247 (GRCm38)	A76T	probably damaging	Het
Mcoln3	A	T	3: 146,137,256 (GRCm38)		probably null	Het
Muc4	T	C	16: 32,766,938 (GRCm38)	F2718L	probably benign	Het
Nek11	C	G	9: 105,393,057 (GRCm38)		probably benign	Het
Olfr1428	A	G	19: 12,109,126 (GRCm38)	V140A	probably benign	Het
Olfr372	C	A	8: 72,057,730 (GRCm38)	L17I	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,536 (GRCm38)	E136G	unknown	Het
Pcdh15	A	T	10: 74,643,809 (GRCm38)	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,725,945 (GRCm38)	T18M	probably benign	Het
Per3	T	C	4: 151,043,649 (GRCm38)	M61V	possibly damaging	Het
Pfas	C	T	11: 68,992,181 (GRCm38)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,106,947 (GRCm38)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,947,115 (GRCm38)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,384,667 (GRCm38)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,493,407 (GRCm38)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,703,137 (GRCm38)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,332,311 (GRCm38)	R257L	probably benign	Het
Rptor	T	G	11: 119,756,345 (GRCm38)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm38)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,745,601 (GRCm38)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,853,851 (GRCm38)	V379L	possibly damaging	Het
Sox8	C	T	17: 25,567,914 (GRCm38)	V272I	probably damaging	Het
Spert	T	A	14: 75,592,658 (GRCm38)	T32S	probably benign	Het
Stard9	C	T	2: 120,702,630 (GRCm38)	H3123Y	probably benign	Het
Taar9	C	T	10: 24,109,012 (GRCm38)	E175K	possibly damaging	Het
Tinag	T	A	9: 77,001,615 (GRCm38)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,513,035 (GRCm38)	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,068,312 (GRCm38)	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,658 (GRCm38)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,638,291 (GRCm38)	D297G	probably benign	Het
Ulk4	A	G	9: 121,258,820 (GRCm38)	F269L	probably benign	Het
Vps39	A	T	2: 120,321,031 (GRCm38)	Y738*	probably null	Het

Other mutations in Cyp2c38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Cyp2c38	APN	19	39,460,725 (GRCm38)	nonsense	probably null
IGL01109:Cyp2c38	APN	19	39,462,885 (GRCm38)	critical splice donor site	probably null
IGL01521:Cyp2c38	APN	19	39,460,670 (GRCm38)	missense	probably damaging	0.99
IGL02036:Cyp2c38	APN	19	39,460,316 (GRCm38)	missense	probably null	0.97
IGL02187:Cyp2c38	APN	19	39,436,205 (GRCm38)	missense	probably benign	0.14
IGL02954:Cyp2c38	APN	19	39,391,076 (GRCm38)	missense	probably damaging	0.99
R0479:Cyp2c38	UTSW	19	39,463,005 (GRCm38)	missense	probably damaging	0.99
R0684:Cyp2c38	UTSW	19	39,391,056 (GRCm38)	missense	probably damaging	0.99
R0919:Cyp2c38	UTSW	19	39,404,669 (GRCm38)	missense	probably benign	0.07
R1462:Cyp2c38	UTSW	19	39,392,188 (GRCm38)	missense	probably damaging	0.96
R1462:Cyp2c38	UTSW	19	39,392,188 (GRCm38)	missense	probably damaging	0.96
R1642:Cyp2c38	UTSW	19	39,401,709 (GRCm38)	missense	probably damaging	1.00
R1715:Cyp2c38	UTSW	19	39,404,795 (GRCm38)	missense	probably benign	0.25
R1900:Cyp2c38	UTSW	19	39,438,312 (GRCm38)	missense	probably benign	0.40
R1954:Cyp2c38	UTSW	19	39,404,687 (GRCm38)	missense	probably damaging	0.99
R1955:Cyp2c38	UTSW	19	39,404,687 (GRCm38)	missense	probably damaging	0.99
R2860:Cyp2c38	UTSW	19	39,460,694 (GRCm38)	missense	probably benign	0.01
R2861:Cyp2c38	UTSW	19	39,460,694 (GRCm38)	missense	probably benign	0.01
R2862:Cyp2c38	UTSW	19	39,460,694 (GRCm38)	missense	probably benign	0.01
R3084:Cyp2c38	UTSW	19	39,401,701 (GRCm38)	missense	probably benign	0.00
R3727:Cyp2c38	UTSW	19	39,392,295 (GRCm38)	splice site	probably benign
R4648:Cyp2c38	UTSW	19	39,460,688 (GRCm38)	missense	probably benign	0.05
R5119:Cyp2c38	UTSW	19	39,460,621 (GRCm38)	missense	probably damaging	1.00
R5636:Cyp2c38	UTSW	19	39,438,306 (GRCm38)	nonsense	probably null
R5651:Cyp2c38	UTSW	19	39,460,712 (GRCm38)	missense	probably damaging	0.99
R6263:Cyp2c38	UTSW	19	39,392,215 (GRCm38)	missense	probably damaging	1.00
R6384:Cyp2c38	UTSW	19	39,392,293 (GRCm38)	splice site	probably null
R6853:Cyp2c38	UTSW	19	39,438,304 (GRCm38)	missense	probably benign	0.02
R7201:Cyp2c38	UTSW	19	39,401,776 (GRCm38)	missense	probably damaging	1.00
R7570:Cyp2c38	UTSW	19	39,404,743 (GRCm38)	missense	possibly damaging	0.76
R7625:Cyp2c38	UTSW	19	39,462,924 (GRCm38)	missense	possibly damaging	0.78
R7666:Cyp2c38	UTSW	19	39,438,242 (GRCm38)	missense	possibly damaging	0.52
R8681:Cyp2c38	UTSW	19	39,401,691 (GRCm38)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- AGGATCCGGTGAACAAATTCC -3'
(R):5'- TGTGTAAACATACAAACTGGCACAC -3'

Sequencing Primer
(F):5'- CCGGTGAACAAATTCCCTTTATG -3'
(R):5'- GAAACAGATTTACATACATGCACAC -3'

Posted On

2018-11-06