Mutagenetix > Incidental Mutation

Incidental Mutation 'R1774:Cyp2c40'

196981

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c40

Ensembl Gene

ENSMUSG00000025004

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 40

Synonyms

MMRRC Submission

039805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R1774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39755517-39801258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 39775250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 334 (T334R)

Ref Sequence

ENSEMBL: ENSMUSP00000125217 (fasta)

Gene Model

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

AlphaFold

P56657

Predicted Effect

probably damaging
Transcript: ENSMUST00000160476
AA Change: T334R

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

SMART Domains

Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: T334R

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

probably benign
Transcript: ENSMUST00000162630

SMART Domains

Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,982,351 (GRCm39)	V312A	probably damaging	Het
2810408A11Rik	A	G	11: 69,791,453 (GRCm39)	V42A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Angpt1	T	A	15: 42,387,012 (GRCm39)	Q114L	probably damaging	Het
Apc2	T	C	10: 80,144,964 (GRCm39)	I625T	probably damaging	Het
Atg2a	T	C	19: 6,300,628 (GRCm39)	V735A	probably benign	Het
Birc6	T	A	17: 74,947,008 (GRCm39)	I2909N	probably damaging	Het
C7	C	G	15: 5,041,557 (GRCm39)	D450H	probably damaging	Het
Cachd1	C	T	4: 100,821,632 (GRCm39)	T403I	probably damaging	Het
Cachd1	T	A	4: 100,824,240 (GRCm39)	F560L	probably benign	Het
Cacna2d2	A	T	9: 107,403,350 (GRCm39)	Y944F	probably benign	Het
Cdkal1	C	T	13: 30,034,031 (GRCm39)	D21N	probably damaging	Het
Col18a1	T	C	10: 76,895,815 (GRCm39)	R901G	probably damaging	Het
Col27a1	C	T	4: 63,143,950 (GRCm39)	P546L	probably damaging	Het
Cps1	C	T	1: 67,210,041 (GRCm39)	R624W	possibly damaging	Het
Cyp11a1	A	T	9: 57,925,643 (GRCm39)	I93F	probably benign	Het
Cyp4f37	A	G	17: 32,848,864 (GRCm39)	D244G	possibly damaging	Het
D630003M21Rik	A	T	2: 158,062,390 (GRCm39)	D43E	probably damaging	Het
Ep400	C	A	5: 110,833,357 (GRCm39)	C1955F	unknown	Het
Ethe1	G	A	7: 24,293,371 (GRCm39)	V6I	probably benign	Het
F5	C	A	1: 164,020,104 (GRCm39)	Q860K	probably benign	Het
Fasn	T	C	11: 120,707,997 (GRCm39)	Y685C	probably damaging	Het
Gga2	T	G	7: 121,611,444 (GRCm39)	D38A	probably damaging	Het
Gm43302	T	A	5: 105,423,660 (GRCm39)	I438F	probably benign	Het
Grm1	T	A	10: 10,955,610 (GRCm39)	T225S	possibly damaging	Het
Hic2	G	T	16: 17,076,511 (GRCm39)	V447L	probably damaging	Het
Hsf2	G	A	10: 57,388,242 (GRCm39)	C462Y	probably damaging	Het
Ice1	T	C	13: 70,752,672 (GRCm39)	D1138G	probably damaging	Het
Il6	A	G	5: 30,224,433 (GRCm39)	T158A	probably benign	Het
Inpp5d	T	A	1: 87,595,611 (GRCm39)	V120E	probably benign	Het
Iqca1	T	C	1: 90,008,625 (GRCm39)	N456S	probably benign	Het
Itgal	T	A	7: 126,908,794 (GRCm39)		probably null	Het
Lrrc66	G	C	5: 73,768,198 (GRCm39)	Q248E	probably benign	Het
Lrrc7	T	A	3: 157,865,929 (GRCm39)	M1271L	possibly damaging	Het
Lrrc74a	T	C	12: 86,795,827 (GRCm39)	S267P	probably damaging	Het
Map2	T	C	1: 66,453,233 (GRCm39)	S550P	probably damaging	Het
Mapk8ip3	A	T	17: 25,143,119 (GRCm39)		probably null	Het
Mdm4	A	C	1: 132,924,384 (GRCm39)	S246A	probably damaging	Het
Med23	A	G	10: 24,779,584 (GRCm39)	E887G	probably damaging	Het
Mta1	C	T	12: 113,091,659 (GRCm39)	A254V	probably damaging	Het
Myh2	A	G	11: 67,064,300 (GRCm39)	Y85C	possibly damaging	Het
Myo1g	A	G	11: 6,465,988 (GRCm39)	Y366H	probably damaging	Het
Nalcn	G	A	14: 123,515,678 (GRCm39)	P1708S	probably benign	Het
Nlrp9c	A	T	7: 26,093,543 (GRCm39)	S41T	probably benign	Het
Nptx2	T	A	5: 144,490,248 (GRCm39)	S226T	possibly damaging	Het
Nup85	T	A	11: 115,473,771 (GRCm39)	S562T	probably benign	Het
Nxpe5	T	C	5: 138,237,797 (GRCm39)	V107A	probably benign	Het
Obi1	A	G	14: 104,717,098 (GRCm39)	V425A	possibly damaging	Het
Oga	T	C	19: 45,765,423 (GRCm39)	E128G	probably benign	Het
Or10ac1	A	T	6: 42,515,453 (GRCm39)	F168I	probably damaging	Het
Or10al7	A	G	17: 38,366,328 (GRCm39)	V43A	probably benign	Het
Or13c3	T	A	4: 52,855,674 (GRCm39)	I280F	probably benign	Het
Or6p1	A	G	1: 174,258,905 (GRCm39)	T304A	probably benign	Het
Pcdhb12	C	T	18: 37,569,495 (GRCm39)	P214S	possibly damaging	Het
Pcdhb5	T	A	18: 37,455,725 (GRCm39)	F702I	probably damaging	Het
Pcnx1	T	C	12: 82,022,094 (GRCm39)	F1475S	probably damaging	Het
Pde5a	C	A	3: 122,523,013 (GRCm39)	T40N	probably benign	Het
Pnpla2	T	A	7: 141,039,481 (GRCm39)	V398E	probably damaging	Het
Pramel19	G	A	4: 101,797,655 (GRCm39)	V18M	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab20	T	C	8: 11,504,223 (GRCm39)	K159R	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rgs12	T	A	5: 35,123,747 (GRCm39)	V510D	probably benign	Het
Slamf6	T	C	1: 171,770,154 (GRCm39)		probably benign	Het
Slc27a5	A	T	7: 12,731,534 (GRCm39)	C23*	probably null	Het
Slc35e2	T	C	4: 155,694,621 (GRCm39)	V56A	possibly damaging	Het
Slx4ip	T	C	2: 136,909,643 (GRCm39)	S143P	probably damaging	Het
Stat5a	C	T	11: 100,770,112 (GRCm39)	S463F	probably damaging	Het
Svep1	T	C	4: 58,146,562 (GRCm39)	D360G	possibly damaging	Het
Tas2r143	A	T	6: 42,377,305 (GRCm39)	D45V	probably damaging	Het
Tdrd5	G	T	1: 156,105,079 (GRCm39)	R516S	probably damaging	Het
Thy1	A	G	9: 43,958,636 (GRCm39)	D126G	probably benign	Het
Tspear	C	T	10: 77,709,019 (GRCm39)	T415I	probably benign	Het
Ttll5	C	A	12: 85,980,176 (GRCm39)	T920K	probably benign	Het
Tut4	T	C	4: 108,365,152 (GRCm39)	F542L	probably damaging	Het
Umod	T	C	7: 119,076,574 (GRCm39)	E64G	possibly damaging	Het
Usf3	A	G	16: 44,036,033 (GRCm39)	N171S	probably damaging	Het
Vmn1r23	T	A	6: 57,903,675 (GRCm39)	R34S	probably damaging	Het
Wasf1	C	G	10: 40,810,475 (GRCm39)	P239R	possibly damaging	Het
Wdr95	C	T	5: 149,487,857 (GRCm39)	R164*	probably null	Het
Zan	C	A	5: 137,418,251 (GRCm39)	C2949F	unknown	Het
Zbed4	T	C	15: 88,665,080 (GRCm39)	S383P	probably benign	Het
Zfand5	T	A	19: 21,253,895 (GRCm39)	C33S	probably damaging	Het
Zfp12	A	G	5: 143,230,984 (GRCm39)	Y437C	probably damaging	Het
Zfp451	A	C	1: 33,852,849 (GRCm39)	S22A	probably benign	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
R1123:Cyp2c40	UTSW	19	39,801,121 (GRCm39)	missense	probably benign	0.00
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
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'- GATGCTTAGAACAGACCACCTGCC -3'
(R):5'- GACCATCTACACCACAGTCTCTGAAATG -3'

Sequencing Primer
(F):5'- CTCAAACAAAGTACTGGCCTTGATG -3'
(R):5'- CCACAGTCTCTGAAATGGTATAAAAG -3'

Posted On

2014-05-23