Mutagenetix > Incidental Mutation

Incidental Mutation 'R1123:Cyp2c40'

95910

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c40

Ensembl Gene

ENSMUSG00000025004

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 40

Synonyms

MMRRC Submission

039196-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1123 (G1)

Quality Score

107

Status

Not validated

Chromosome

Chromosomal Location

39755517-39801258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 39801121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 45 (V45L)

Ref Sequence

ENSEMBL: ENSMUSP00000123884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160476] [ENSMUST00000162507] [ENSMUST00000162630]

AlphaFold

P56657

Predicted Effect

probably benign
Transcript: ENSMUST00000160476
AA Change: V45L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: V45L

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
transmembrane domain	32	49	N/A	INTRINSIC
Pfam:p450	59	516	9.8e-153	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162434

Predicted Effect

probably benign
Transcript: ENSMUST00000162507
AA Change: V16L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124618
Gene: ENSMUSG00000025004
AA Change: V16L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	120	3.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162630
AA Change: V45L

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

SMART Domains

Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004
AA Change: V45L

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
transmembrane domain	32	49	N/A	INTRINSIC
Pfam:p450	59	193	6.6e-33	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,154,906 (GRCm39)	M987K	probably benign	Het
Akap3	A	G	6: 126,842,929 (GRCm39)	D516G	probably benign	Het
Arhgap12	A	C	18: 6,031,822 (GRCm39)	V573G	probably damaging	Het
Ccdc122	T	C	14: 77,305,351 (GRCm39)	S2P	probably damaging	Het
Cel	T	C	2: 28,446,752 (GRCm39)	Y473C	probably damaging	Het
Cfap157	C	T	2: 32,667,935 (GRCm39)	V469M	possibly damaging	Het
Dtx3l	C	T	16: 35,753,638 (GRCm39)	A323T	probably damaging	Het
Erap1	A	G	13: 74,821,762 (GRCm39)	T706A	probably benign	Het
Esyt1	A	T	10: 128,352,427 (GRCm39)	V728E	probably benign	Het
Etnk2	A	G	1: 133,301,010 (GRCm39)	D259G	probably benign	Het
Evi5	T	G	5: 107,968,444 (GRCm39)	I184L	probably benign	Het
Fem1a	G	C	17: 56,564,791 (GRCm39)	D295H	probably damaging	Het
Hectd4	T	C	5: 121,424,799 (GRCm39)	F83S	probably damaging	Het
Hephl1	T	C	9: 14,991,436 (GRCm39)	T601A	probably benign	Het
Isoc1	T	C	18: 58,804,695 (GRCm39)	V201A	probably benign	Het
Kcnt2	A	T	1: 140,501,346 (GRCm39)	D830V	probably damaging	Het
Lrfn1	G	T	7: 28,166,544 (GRCm39)	C646F	possibly damaging	Het
Nbeal1	T	C	1: 60,299,428 (GRCm39)	Y1255H	probably benign	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Or4c120	A	G	2: 89,001,212 (GRCm39)	S115P	possibly damaging	Het
Or5k16	A	T	16: 58,736,697 (GRCm39)	Y102*	probably null	Het
Or9m1	A	C	2: 87,733,248 (GRCm39)	I257M	probably damaging	Het
Pik3r4	G	A	9: 105,540,328 (GRCm39)	A739T	probably benign	Het
Prpf8	T	C	11: 75,386,111 (GRCm39)	V920A	probably damaging	Het
Slc16a7	A	C	10: 125,067,016 (GRCm39)	S208A	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc35g2	A	T	9: 100,435,047 (GRCm39)	I208N	probably damaging	Het
Suclg1	A	G	6: 73,233,210 (GRCm39)	I51V	probably benign	Het
Thoc2l	T	C	5: 104,666,336 (GRCm39)	L286P	probably damaging	Het

Other mutations in Cyp2c40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Cyp2c40	APN	19	39,801,027 (GRCm39)	missense	probably benign	0.17
IGL01660:Cyp2c40	APN	19	39,775,254 (GRCm39)	missense	probably damaging	0.99
IGL01897:Cyp2c40	APN	19	39,792,217 (GRCm39)	nonsense	probably null
IGL01926:Cyp2c40	APN	19	39,791,099 (GRCm39)	missense	probably benign	0.25
IGL02078:Cyp2c40	APN	19	39,755,926 (GRCm39)	missense	probably benign	0.01
IGL02259:Cyp2c40	APN	19	39,792,246 (GRCm39)	missense	probably benign	0.00
IGL02716:Cyp2c40	APN	19	39,795,980 (GRCm39)	missense	possibly damaging	0.49
cypriot	UTSW	19	39,755,899 (GRCm39)	missense	probably damaging	0.98
R0269:Cyp2c40	UTSW	19	39,762,340 (GRCm39)	missense	probably damaging	1.00
R0308:Cyp2c40	UTSW	19	39,766,432 (GRCm39)	missense	probably damaging	1.00
R0309:Cyp2c40	UTSW	19	39,766,495 (GRCm39)	missense	possibly damaging	0.51
R0441:Cyp2c40	UTSW	19	39,795,607 (GRCm39)	splice site	probably benign
R1068:Cyp2c40	UTSW	19	39,801,025 (GRCm39)	missense	possibly damaging	0.93
R1443:Cyp2c40	UTSW	19	39,766,415 (GRCm39)	missense	possibly damaging	0.90
R1506:Cyp2c40	UTSW	19	39,766,443 (GRCm39)	missense	probably damaging	0.96
R1567:Cyp2c40	UTSW	19	39,792,215 (GRCm39)	missense	probably null	0.99
R1731:Cyp2c40	UTSW	19	39,801,133 (GRCm39)	missense	probably damaging	1.00
R1774:Cyp2c40	UTSW	19	39,775,250 (GRCm39)	missense	probably damaging	1.00
R1861:Cyp2c40	UTSW	19	39,775,319 (GRCm39)	missense	probably benign	0.11
R1977:Cyp2c40	UTSW	19	39,766,485 (GRCm39)	missense	probably damaging	1.00
R2022:Cyp2c40	UTSW	19	39,801,224 (GRCm39)	unclassified	probably benign
R2063:Cyp2c40	UTSW	19	39,775,224 (GRCm39)	missense	probably benign	0.01
R2359:Cyp2c40	UTSW	19	39,766,398 (GRCm39)	missense	probably damaging	1.00
R2413:Cyp2c40	UTSW	19	39,792,331 (GRCm39)	nonsense	probably null
R3685:Cyp2c40	UTSW	19	39,775,223 (GRCm39)	missense	possibly damaging	0.95
R4080:Cyp2c40	UTSW	19	39,790,973 (GRCm39)	missense	probably benign	0.01
R4614:Cyp2c40	UTSW	19	39,792,300 (GRCm39)	missense	probably damaging	1.00
R4661:Cyp2c40	UTSW	19	39,775,290 (GRCm39)	missense	probably benign	0.00
R4716:Cyp2c40	UTSW	19	39,791,105 (GRCm39)	splice site	probably null
R4799:Cyp2c40	UTSW	19	39,762,293 (GRCm39)	missense	probably damaging	1.00
R5133:Cyp2c40	UTSW	19	39,795,663 (GRCm39)	missense	probably benign	0.02
R5191:Cyp2c40	UTSW	19	39,791,035 (GRCm39)	missense	probably damaging	0.96
R5310:Cyp2c40	UTSW	19	39,766,474 (GRCm39)	missense	probably damaging	1.00
R5455:Cyp2c40	UTSW	19	39,792,236 (GRCm39)	missense	possibly damaging	0.75
R5619:Cyp2c40	UTSW	19	39,792,228 (GRCm39)	missense	probably damaging	1.00
R5989:Cyp2c40	UTSW	19	39,796,024 (GRCm39)	missense	probably benign	0.45
R6175:Cyp2c40	UTSW	19	39,801,004 (GRCm39)	missense	probably benign	0.00
R6622:Cyp2c40	UTSW	19	39,790,990 (GRCm39)	missense	probably damaging	1.00
R6987:Cyp2c40	UTSW	19	39,801,211 (GRCm39)	unclassified	probably benign
R7057:Cyp2c40	UTSW	19	39,796,063 (GRCm39)	missense	probably damaging	1.00
R7485:Cyp2c40	UTSW	19	39,796,050 (GRCm39)	nonsense	probably null
R7560:Cyp2c40	UTSW	19	39,795,658 (GRCm39)	missense	possibly damaging	0.81
R7648:Cyp2c40	UTSW	19	39,792,289 (GRCm39)	makesense	probably null
R7718:Cyp2c40	UTSW	19	39,755,782 (GRCm39)	missense	probably benign	0.00
R7763:Cyp2c40	UTSW	19	39,795,612 (GRCm39)	missense	possibly damaging	0.90
R7893:Cyp2c40	UTSW	19	39,775,292 (GRCm39)	missense	probably damaging	0.99
R8094:Cyp2c40	UTSW	19	39,791,015 (GRCm39)	missense	probably benign	0.00
R8094:Cyp2c40	UTSW	19	39,791,009 (GRCm39)	missense	probably benign	0.17
R8264:Cyp2c40	UTSW	19	39,795,971 (GRCm39)	missense	possibly damaging	0.95
R8287:Cyp2c40	UTSW	19	39,755,899 (GRCm39)	missense	probably damaging	0.98
R8302:Cyp2c40	UTSW	19	39,796,066 (GRCm39)	missense	probably damaging	1.00
R8848:Cyp2c40	UTSW	19	39,801,244 (GRCm39)	missense	unknown
R8915:Cyp2c40	UTSW	19	39,795,991 (GRCm39)	missense	probably benign	0.31
R8963:Cyp2c40	UTSW	19	39,755,926 (GRCm39)	missense	possibly damaging	0.82
R9132:Cyp2c40	UTSW	19	39,762,317 (GRCm39)	missense	probably damaging	1.00
R9159:Cyp2c40	UTSW	19	39,762,317 (GRCm39)	missense	probably damaging	1.00
R9168:Cyp2c40	UTSW	19	39,755,819 (GRCm39)	missense	probably benign
R9486:Cyp2c40	UTSW	19	39,796,050 (GRCm39)	nonsense	probably null
R9486:Cyp2c40	UTSW	19	39,755,808 (GRCm39)	missense	probably benign	0.00
R9489:Cyp2c40	UTSW	19	39,766,443 (GRCm39)	missense	probably damaging	1.00
R9605:Cyp2c40	UTSW	19	39,766,443 (GRCm39)	missense	probably damaging	1.00
R9772:Cyp2c40	UTSW	19	39,792,348 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- gctcagaggaccaacaacaCAAAATAATAGAA -3'
(R):5'- TCAGCCTTACTTGTCACAACTCAACAAAAT -3'

Sequencing Primer
(F):5'- GGGTCTTCAATCTGAAACTTAGAGC -3'
(R):5'- GATGTCTTACAGGCACTCTACG -3'

Posted On

2014-01-05