Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Cyp2c38'

440400

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c38

Ensembl Gene

ENSMUSG00000032808

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 38

Synonyms

MMRRC Submission

043287-MU

Accession Numbers

Essential gene?

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

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39389556-39463075 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 39438306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 184 (Q184*)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

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

AlphaFold

P56655

Predicted Effect

probably null
Transcript: ENSMUST00000035488
AA Change: Q184*

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: Q184*

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,944,982	Q448*	probably null	Het
Abca5	A	G	11: 110,301,536	Y717H	probably benign	Het
Abcg2	T	A	6: 58,672,056	D295E	probably damaging	Het
Accsl	C	T	2: 93,869,025	E7K	probably benign	Het
Acvr2b	A	G	9: 119,428,309	Y152C	probably damaging	Het
Akap13	A	G	7: 75,704,372	E1747G	probably damaging	Het
Arpp19	C	T	9: 75,037,933		probably benign	Het
Atp10d	A	G	5: 72,288,219	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,886,385		probably benign	Het
Bms1	C	A	6: 118,388,825	M1133I	probably benign	Het
Bysl	A	C	17: 47,602,723	D259E	probably benign	Het
Capn1	A	T	19: 6,014,442	V9E	probably benign	Het
Cdkl2	T	C	5: 92,033,742	I127V	probably benign	Het
Cypt12	C	T	3: 17,948,585	R41C	probably benign	Het
Fat2	T	C	11: 55,282,481	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,511,018	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,956,686	C148R	probably damaging	Het
Gpd1	A	T	15: 99,722,058	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,130,945	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,163,456	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,201,301	T35A	probably benign	Het
Lgr6	T	C	1: 134,987,078	D644G	probably benign	Het
Lrrc6	A	T	15: 66,500,816		probably null	Het
Mdn1	C	T	4: 32,695,480	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,901,240	V221A	probably damaging	Het
Mrgprb4	A	G	7: 48,198,470	C237R	probably benign	Het
Myo1b	A	G	1: 51,797,528	M264T	probably damaging	Het
Naxd	A	G	8: 11,502,676	N32S	probably benign	Het
Nlrp12	A	T	7: 3,225,294	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Nuggc	A	T	14: 65,648,188	K755*	probably null	Het
Olfr1501	C	T	19: 13,838,337	V279M	possibly damaging	Het
Olfr332	T	C	11: 58,490,051	K235E	probably damaging	Het
Pik3ca	G	A	3: 32,461,560	R794Q	probably damaging	Het
Pnp2	A	G	14: 50,956,192		probably null	Het
Ric3	G	A	7: 109,038,820	T242I	probably damaging	Het
Rnf213	G	A	11: 119,436,629	R1814K	probably benign	Het
Rnf213	A	C	11: 119,436,905	Q1906P	probably damaging	Het
Rufy2	T	A	10: 62,997,954	I265N	probably damaging	Het
Scap	G	T	9: 110,380,594	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,275,014	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 54,997,193	D907G	probably damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,554,216	L749F	possibly damaging	Het
Smtn	T	G	11: 3,517,829		probably null	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Sptbn5	G	A	2: 120,057,404		probably benign	Het
Stam	G	T	2: 14,117,427	M112I	probably damaging	Het
Tex35	C	T	1: 157,100,224	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394	E157G	probably damaging	Het
Traf6	G	A	2: 101,696,909	V335M	probably benign	Het
Ubr5	T	A	15: 37,983,996	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,954,429	H605R	probably damaging	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
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
R6915:Cyp2c38	UTSW	19	39,436,068 (GRCm38)	missense	probably damaging	0.99
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'- GAACCAAGTTGCCTTGTCAC -3'
(R):5'- TAACAAATGCTGAGCTGTGAGG -3'

Sequencing Primer
(F):5'- AAGTTGCCTTGTCACCTCAC -3'
(R):5'- TGCTGAGCTGTGAGGAAAATTG -3'

Posted On

2016-11-08