Mutagenetix > Incidental Mutation

Incidental Mutation 'R9451:Cyp2t4'

714255

Institutional Source

Beutler Lab

Gene Symbol

Cyp2t4

Ensembl Gene

ENSMUSG00000078787

Gene Name

cytochrome P450, family 2, subfamily t, polypeptide 4

Synonyms

LOC384724

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26853139-26857989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26854717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 66 (V66M)

Ref Sequence

ENSEMBL: ENSMUSP00000126779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080058] [ENSMUST00000108382] [ENSMUST00000108385] [ENSMUST00000164093]

AlphaFold

E9PWV0

Predicted Effect

probably benign
Transcript: ENSMUST00000080058

SMART Domains

Protein: ENSMUSP00000078966
Gene: ENSMUSG00000058709

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Blast:P4Hc	75	136	3e-14	BLAST
low complexity region	154	174	N/A	INTRINSIC
P4Hc	201	387	9.71e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108382

SMART Domains

Protein: ENSMUSP00000104019
Gene: ENSMUSG00000058709

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Blast:P4Hc	75	136	3e-14	BLAST
low complexity region	154	174	N/A	INTRINSIC
P4Hc	201	387	9.71e-44	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108385
AA Change: V58M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104022
Gene: ENSMUSG00000078787
AA Change: V58M

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	35	492	5.3e-130	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164093
AA Change: V66M

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126779
Gene: ENSMUSG00000078787
AA Change: V66M

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:p450	43	500	2.6e-130	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh8a1	T	A	10: 21,265,032 (GRCm39)	S220T	probably benign	Het
Ankrd66	A	G	17: 43,845,811 (GRCm39)	V192A	probably benign	Het
Aoc1l3	A	G	6: 48,965,774 (GRCm39)	Y594C	probably damaging	Het
Atp1a2	A	G	1: 172,103,494 (GRCm39)	Y1009H	probably benign	Het
Bptf	A	C	11: 106,935,411 (GRCm39)	M142R	probably damaging	Het
Brwd1	C	T	16: 95,845,703 (GRCm39)	R740Q	probably damaging	Het
C3	A	G	17: 57,531,169 (GRCm39)	M339T	probably benign	Het
Catsperg1	A	G	7: 28,897,772 (GRCm39)		probably null	Het
Cep295nl	T	A	11: 118,224,446 (GRCm39)	K133*	probably null	Het
Copg2	A	T	6: 30,793,786 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,402 (GRCm39)	D89E	probably damaging	Het
Ddx54	G	T	5: 120,765,209 (GRCm39)	R826L	probably damaging	Het
Dlg4	G	T	11: 69,922,065 (GRCm39)	K162N	probably damaging	Het
Dna2	T	A	10: 62,790,072 (GRCm39)	L185H	probably benign	Het
Dock9	C	T	14: 121,787,601 (GRCm39)		probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Etl4	A	G	2: 20,813,926 (GRCm39)	I1322V	probably benign	Het
Exd1	T	C	2: 119,355,064 (GRCm39)	K284E	possibly damaging	Het
Flnc	A	G	6: 29,445,462 (GRCm39)	T786A	probably damaging	Het
Gm29106	A	C	1: 118,127,644 (GRCm39)	E445D	possibly damaging	Het
Gm5592	T	C	7: 40,935,876 (GRCm39)	L126P	probably damaging	Het
Grep1	A	G	17: 23,936,187 (GRCm39)	Y19H	unknown	Het
Gtf3c2	T	G	5: 31,325,773 (GRCm39)	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,294,100 (GRCm39)	R669S	probably benign	Het
Hivep1	A	G	13: 42,337,252 (GRCm39)	T2444A	probably benign	Het
Hspg2	A	G	4: 137,238,380 (GRCm39)	E289G	probably damaging	Het
Htatip2	C	A	7: 49,408,987 (GRCm39)	T9K	unknown	Het
Ifngr1	T	C	10: 19,483,041 (GRCm39)	V265A	possibly damaging	Het
Ift140	A	G	17: 25,252,925 (GRCm39)	N359D	probably benign	Het
Mat1a	A	G	14: 40,836,803 (GRCm39)	R178G	probably damaging	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Myh14	C	T	7: 44,273,743 (GRCm39)		probably null	Het
Myof	A	G	19: 37,966,096 (GRCm39)		probably null	Het
Nfe2l1	G	T	11: 96,718,453 (GRCm39)	D27E	probably damaging	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Or4a15	A	T	2: 89,193,243 (GRCm39)	C177S	probably damaging	Het
Or4k51	T	C	2: 111,585,218 (GRCm39)	V208A	probably benign	Het
Or5p61	A	G	7: 107,758,468 (GRCm39)	V204A	probably benign	Het
Or8s5	A	G	15: 98,238,144 (GRCm39)	V242A	possibly damaging	Het
Plec	C	A	15: 76,067,987 (GRCm39)	Q1139H	unknown	Het
Plxna2	T	A	1: 194,326,692 (GRCm39)	S209T	probably benign	Het
Plxnd1	T	C	6: 115,940,277 (GRCm39)	E1369G	possibly damaging	Het
Psd3	T	C	8: 68,363,487 (GRCm39)	I3V	unknown	Het
Pwp1	T	A	10: 85,714,428 (GRCm39)	F195L	probably damaging	Het
Rab3ip	C	T	10: 116,775,354 (GRCm39)	M1I	probably null	Het
Rad54l2	T	C	9: 106,585,488 (GRCm39)	K759R	probably benign	Het
Rims2	G	T	15: 39,300,724 (GRCm39)	V344L	probably damaging	Het
Robo1	G	A	16: 72,803,718 (GRCm39)	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,282,745 (GRCm39)		probably benign	Het
Serhl	A	C	15: 82,987,167 (GRCm39)	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,075,392 (GRCm39)		probably null	Het
Slc27a1	T	A	8: 72,032,808 (GRCm39)	Y248*	probably null	Het
Slitrk3	T	A	3: 72,958,616 (GRCm39)	E52V	possibly damaging	Het
Snx2	T	C	18: 53,343,415 (GRCm39)	V271A	probably benign	Het
Snx9	C	A	17: 5,949,768 (GRCm39)	P156Q	probably damaging	Het
Spag6	C	A	2: 18,715,369 (GRCm39)	Y71*	probably null	Het
Speer4a3	T	A	5: 26,156,569 (GRCm39)	K137*	probably null	Het
Speg	A	G	1: 75,394,377 (GRCm39)	D1724G	probably damaging	Het
Syt7	A	G	19: 10,421,532 (GRCm39)	N572S	probably damaging	Het
Thoc2l	C	A	5: 104,668,644 (GRCm39)	S1055R	probably benign	Het
Ticam2	A	G	18: 46,693,766 (GRCm39)	I107T	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,488,256 (GRCm39)	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663 (GRCm39)	T519A	possibly damaging	Het
Trim43b	G	A	9: 88,973,608 (GRCm39)	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,852,089 (GRCm39)	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,158 (GRCm39)	D97G	probably benign	Het
Uncx	A	G	5: 139,532,475 (GRCm39)	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,710,352 (GRCm39)	T552A	probably damaging	Het
Vmn2r51	A	T	7: 9,833,816 (GRCm39)	H407Q	probably damaging	Het
Wdfy4	C	T	14: 32,855,518 (GRCm39)	E699K		Het
Wdr95	A	G	5: 149,504,165 (GRCm39)	T324A	probably benign	Het

Other mutations in Cyp2t4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Cyp2t4	APN	7	26,854,723 (GRCm39)	missense	probably benign	0.00
IGL00706:Cyp2t4	APN	7	26,854,583 (GRCm39)	missense	probably benign	0.01
IGL02926:Cyp2t4	APN	7	26,857,228 (GRCm39)	missense	probably damaging	1.00
R0560:Cyp2t4	UTSW	7	26,857,936 (GRCm39)	missense	probably damaging	0.99
R0632:Cyp2t4	UTSW	7	26,857,671 (GRCm39)	missense	possibly damaging	0.82
R0788:Cyp2t4	UTSW	7	26,854,588 (GRCm39)	missense	probably null
R1353:Cyp2t4	UTSW	7	26,856,055 (GRCm39)	missense	probably benign	0.03
R1652:Cyp2t4	UTSW	7	26,856,815 (GRCm39)	missense	possibly damaging	0.48
R1838:Cyp2t4	UTSW	7	26,857,841 (GRCm39)	missense	possibly damaging	0.92
R1997:Cyp2t4	UTSW	7	26,857,038 (GRCm39)	critical splice donor site	probably null
R2136:Cyp2t4	UTSW	7	26,857,585 (GRCm39)	missense	probably benign	0.32
R2963:Cyp2t4	UTSW	7	26,854,699 (GRCm39)	missense	possibly damaging	0.86
R6239:Cyp2t4	UTSW	7	26,856,900 (GRCm39)	missense	possibly damaging	0.73
R6634:Cyp2t4	UTSW	7	26,855,213 (GRCm39)	nonsense	probably null
R7251:Cyp2t4	UTSW	7	26,857,144 (GRCm39)	missense	possibly damaging	0.72
R7348:Cyp2t4	UTSW	7	26,856,676 (GRCm39)	missense	probably benign	0.01
R7436:Cyp2t4	UTSW	7	26,857,668 (GRCm39)	missense	probably damaging	0.99
R8350:Cyp2t4	UTSW	7	26,856,806 (GRCm39)	missense	possibly damaging	0.51
R8352:Cyp2t4	UTSW	7	26,857,162 (GRCm39)	missense	probably benign	0.04
R8405:Cyp2t4	UTSW	7	26,856,894 (GRCm39)	critical splice acceptor site	probably null
R8450:Cyp2t4	UTSW	7	26,856,806 (GRCm39)	missense	possibly damaging	0.51
R8452:Cyp2t4	UTSW	7	26,857,162 (GRCm39)	missense	probably benign	0.04
R9366:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9370:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9447:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9495:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9496:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9497:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9499:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9500:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9516:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9553:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9554:Cyp2t4	UTSW	7	26,854,717 (GRCm39)	missense	possibly damaging	0.80
R9682:Cyp2t4	UTSW	7	26,857,611 (GRCm39)	missense	probably damaging	1.00
R9732:Cyp2t4	UTSW	7	26,854,657 (GRCm39)	missense	probably damaging	0.97
Z1088:Cyp2t4	UTSW	7	26,857,171 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp2t4	UTSW	7	26,857,665 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGACAGGATGGTCACCTGC -3'
(R):5'- AGTCTAGGCATCAGCTCTTAGAC -3'

Sequencing Primer
(F):5'- ATGGTCACCTGCTTGGC -3'
(R):5'- ATCAGCTCTTAGACACAGGGGTC -3'

Posted On

2022-06-15