Mutagenetix > Incidental Mutation

Incidental Mutation 'R9732:Cyp2t4'

731468

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 #

R9732 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26853139-26857989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26854657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 46 (P46S)

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

probably damaging
Transcript: ENSMUST00000108385
AA Change: P38S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104022
Gene: ENSMUSG00000078787
AA Change: P38S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164093
AA Change: P46S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126779
Gene: ENSMUSG00000078787
AA Change: P46S

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	T	4: 156,258,446 (GRCm39)	S1007T	probably benign	Het
Akap10	A	T	11: 61,787,545 (GRCm39)	C466S	probably damaging	Het
Apol9b	C	T	15: 77,619,566 (GRCm39)	P121S	possibly damaging	Het
Atr	T	A	9: 95,743,438 (GRCm39)	Y26N	probably damaging	Het
Cadm2	G	A	16: 66,528,297 (GRCm39)	T346I	probably benign	Het
Capn7	T	C	14: 31,090,031 (GRCm39)	I628T	probably damaging	Het
Cfap43	A	G	19: 47,775,446 (GRCm39)	S609P	probably damaging	Het
Chst2	C	T	9: 95,287,951 (GRCm39)	G132S	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Coq10a	A	G	10: 128,199,516 (GRCm39)	F253L	probably benign	Het
Ddx54	T	C	5: 120,763,911 (GRCm39)		probably null	Het
Dip2a	T	A	10: 76,110,077 (GRCm39)	I1180L	probably benign	Het
Dpp8	G	T	9: 64,970,862 (GRCm39)		probably null	Het
Efr3a	T	A	15: 65,720,139 (GRCm39)	N378K	probably benign	Het
Etl4	C	T	2: 20,748,373 (GRCm39)	T237I	probably damaging	Het
Exo1	T	A	1: 175,727,065 (GRCm39)	S459T	probably benign	Het
Fam81b	G	A	13: 76,399,985 (GRCm39)	T91I	probably benign	Het
Fry	A	G	5: 150,328,758 (GRCm39)	E1297G	probably benign	Het
Gm11110	G	A	17: 57,410,382 (GRCm39)	L39F	unknown	Het
Gm3233	G	T	10: 77,595,147 (GRCm39)	Q124K	unknown	Het
Gm7145	C	G	1: 117,913,839 (GRCm39)	H240Q	probably benign	Het
Gnrh1	G	T	14: 67,985,316 (GRCm39)	R67L	possibly damaging	Het
Grip2	T	A	6: 91,761,686 (GRCm39)	E236V	probably damaging	Het
H3c10	A	T	13: 21,902,186 (GRCm39)	I120F	probably benign	Het
Hectd4	G	T	5: 121,392,254 (GRCm39)	E173*	probably null	Het
Hgf	T	A	5: 16,820,748 (GRCm39)	L632I	probably damaging	Het
Igsf11	T	C	16: 38,843,652 (GRCm39)	V255A	probably benign	Het
Jmjd4	G	T	11: 59,341,339 (GRCm39)		probably null	Het
Khdrbs3	C	A	15: 68,885,212 (GRCm39)	N71K	probably damaging	Het
Kif20b	A	G	19: 34,930,353 (GRCm39)	D1286G	probably benign	Het
Lpin3	T	A	2: 160,734,196 (GRCm39)	L27Q	probably damaging	Het
Macroh2a1	G	C	13: 56,243,976 (GRCm39)	F183L	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	T	A	14: 61,033,637 (GRCm39)	F184I	probably damaging	Het
Mst1	A	T	9: 107,959,425 (GRCm39)	D237V	possibly damaging	Het
Mycbp2	T	C	14: 103,448,749 (GRCm39)	D1803G	probably damaging	Het
Ncoa6	T	G	2: 155,244,636 (GRCm39)	K1978T	probably damaging	Het
Nkain4	G	A	2: 180,585,901 (GRCm39)	T54I	probably damaging	Het
Olig3	G	A	10: 19,233,151 (GRCm39)	A259T	probably benign	Het
Or5w14	T	C	2: 87,541,489 (GRCm39)	T254A	possibly damaging	Het
Pacs1	A	G	19: 5,184,997 (GRCm39)	W943R	probably damaging	Het
Pkp4	T	A	2: 59,138,797 (GRCm39)	L349Q	possibly damaging	Het
Polh	A	T	17: 46,498,997 (GRCm39)	H239Q	probably benign	Het
Ptprq	G	C	10: 107,412,767 (GRCm39)	C1777W	probably damaging	Het
Rhod	A	T	19: 4,476,740 (GRCm39)	V127E	probably damaging	Het
Rnf6	A	G	5: 146,152,931 (GRCm39)	S84P	probably benign	Het
Rundc3b	T	C	5: 8,562,406 (GRCm39)	T321A	probably damaging	Het
Rxfp2	G	A	5: 149,993,767 (GRCm39)	A620T	probably damaging	Het
Sacm1l	A	G	9: 123,381,863 (GRCm39)	E155G	probably benign	Het
Saxo5	C	T	8: 3,526,167 (GRCm39)	H107Y	possibly damaging	Het
Sdad1	A	T	5: 92,438,942 (GRCm39)	D471E	probably benign	Het
Sema6a	T	A	18: 47,381,925 (GRCm39)	N874I	probably damaging	Het
Serinc4	C	A	2: 121,283,631 (GRCm39)	W283L	possibly damaging	Het
Simc1	GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	13: 54,673,177 (GRCm39)		probably benign	Het
Slc24a3	A	T	2: 145,458,591 (GRCm39)	S524C	probably damaging	Het
Slc4a10	T	G	2: 62,135,086 (GRCm39)	S1042R	probably damaging	Het
Smg7	A	T	1: 152,736,212 (GRCm39)	V190D	probably damaging	Het
Sub1	T	A	15: 11,986,650 (GRCm39)	I66F	possibly damaging	Het
Svop	G	A	5: 114,201,142 (GRCm39)	P109S	probably damaging	Het
Synj1	G	A	16: 90,761,414 (GRCm39)	P684L	probably damaging	Het
Synm	A	G	7: 67,385,652 (GRCm39)	V670A	probably damaging	Het
Tep1	T	C	14: 51,088,162 (GRCm39)	I792V	probably benign	Het
Tex22	A	G	12: 113,052,196 (GRCm39)	T85A	possibly damaging	Het
Tmem151a	C	T	19: 5,131,937 (GRCm39)	S423N	probably damaging	Het
Tnks1bp1	T	A	2: 84,889,727 (GRCm39)	W685R	probably damaging	Het
Top3a	A	G	11: 60,640,391 (GRCm39)	F436L	probably benign	Het
Trim55	A	T	3: 19,716,039 (GRCm39)	I200F	probably damaging	Het
Trpv6	T	A	6: 41,603,862 (GRCm39)	R186*	probably null	Het
Ttc6	G	A	12: 57,775,335 (GRCm39)	C1677Y	probably benign	Het
Ttn	C	T	2: 76,769,206 (GRCm39)	V2831I	unknown	Het
Tyrp1	T	A	4: 80,758,930 (GRCm39)	S268T	possibly damaging	Het
Unc5d	C	T	8: 29,381,319 (GRCm39)		probably null	Het
Usb1	G	T	8: 96,065,375 (GRCm39)	V129L	probably damaging	Het
Usp22	G	A	11: 61,051,437 (GRCm39)	T302M	probably damaging	Het
Vmn1r210	C	A	13: 23,011,379 (GRCm39)	L302F	possibly damaging	Het
Zfp689	C	A	7: 127,044,283 (GRCm39)	E116*	probably null	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
R9451: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
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'- GGGTTAGGCATTCGAGGAAC -3'
(R):5'- CCTGTCTCTTCAGTGAACTGG -3'

Sequencing Primer
(F):5'- GGAACAGAGAAGTCTCAAACTCTTGC -3'
(R):5'- AGTGAACTGGGATTTCTACCCC -3'

Posted On

2022-11-14