Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Cyp3a25'

617446

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a25

Ensembl Gene

ENSMUSG00000029630

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 25

Synonyms

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145914004-145946428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145914478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 484 (Q484L)

Ref Sequence

ENSEMBL: ENSMUSP00000065585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068317] [ENSMUST00000138870] [ENSMUST00000145062]

AlphaFold

O09158

Predicted Effect

probably benign
Transcript: ENSMUST00000068317
AA Change: Q484L

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065585
Gene: ENSMUSG00000029630
AA Change: Q484L

Domain	Start	End	E-Value	Type
Pfam:p450	38	493	9.4e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138870
AA Change: Q118L

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

SMART Domains

Protein: ENSMUSP00000116077
Gene: ENSMUSG00000029630
AA Change: Q118L

Domain	Start	End	E-Value	Type
Pfam:p450	38	126	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145062

SMART Domains

Protein: ENSMUSP00000123615
Gene: ENSMUSG00000029630

Domain	Start	End	E-Value	Type
Pfam:p450	38	148	3.9e-21	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,361,915 (GRCm39)	T1386S	probably benign	Het
AI661453	T	G	17: 47,777,161 (GRCm39)	S296A	unknown	Het
Ambp	G	T	4: 63,062,434 (GRCm39)	N268K	probably damaging	Het
Ankrd11	T	C	8: 123,614,332 (GRCm39)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 110,559,367 (GRCm39)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,455,904 (GRCm39)		probably null	Het
Aspa	A	C	11: 73,213,032 (GRCm39)	N103K	probably benign	Het
Bend7	G	A	2: 4,757,590 (GRCm39)	V211I	probably benign	Het
Bsn	A	G	9: 107,991,603 (GRCm39)	M1383T	probably benign	Het
Cad	G	T	5: 31,226,150 (GRCm39)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,723,358 (GRCm39)	L856S	probably damaging	Het
Cdh20	T	A	1: 109,988,838 (GRCm39)	S247T	probably benign	Het
Ces1b	A	G	8: 93,795,943 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm39)	V34E	unknown	Het
Clca3a2	A	T	3: 144,511,527 (GRCm39)	F623I	probably damaging	Het
Cope	T	G	8: 70,765,453 (GRCm39)	M217R	probably benign	Het
Crim1	T	A	17: 78,622,984 (GRCm39)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,760,486 (GRCm39)	I644N	probably damaging	Het
Cry1	G	A	10: 84,982,266 (GRCm39)	A360V	probably damaging	Het
Ctcfl	A	T	2: 172,960,559 (GRCm39)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,500,315 (GRCm39)	Q475*	probably null	Het
Cyp39a1	T	C	17: 44,057,468 (GRCm39)	Y436H	probably damaging	Het
Dnah1	A	G	14: 30,986,971 (GRCm39)	F3607S	probably damaging	Het
Dnali1	T	A	4: 124,959,323 (GRCm39)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,081,052 (GRCm39)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,596,570 (GRCm39)	A53S	probably benign	Het
Epcam	T	C	17: 87,953,736 (GRCm39)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm39)	I155V	possibly damaging	Het
Fgd6	A	T	10: 93,880,206 (GRCm39)	K353N	possibly damaging	Het
Glce	A	T	9: 61,967,873 (GRCm39)	M426K	probably benign	Het
Glmp	A	T	3: 88,233,827 (GRCm39)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,424,494 (GRCm39)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,058,800 (GRCm39)	H273L	probably benign	Het
Gzmg	T	A	14: 56,394,903 (GRCm39)	T122S	probably benign	Het
Hace1	T	C	10: 45,577,066 (GRCm39)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,937,682 (GRCm39)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,366,189 (GRCm39)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,517,010 (GRCm39)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,122,446 (GRCm39)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,486,678 (GRCm39)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,639,754 (GRCm39)	E740G	probably benign	Het
Lmod3	T	C	6: 97,225,260 (GRCm39)	D187G	probably benign	Het
Lsm3	C	T	6: 91,496,543 (GRCm39)	H49Y	probably benign	Het
Lypd10	T	A	7: 24,413,599 (GRCm39)	I205N	possibly damaging	Het
Magi1	T	C	6: 93,674,346 (GRCm39)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,822,242 (GRCm39)	R782Q	probably damaging	Het
Mical2	A	T	7: 111,902,974 (GRCm39)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,299,431 (GRCm39)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,476,192 (GRCm39)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,839,136 (GRCm39)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,515,113 (GRCm39)	N28D	probably benign	Het
Nprl2	A	C	9: 107,420,260 (GRCm39)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm39)	I88N	probably damaging	Het
Oas3	A	G	5: 120,895,031 (GRCm39)	I986T	possibly damaging	Het
Or6c76	A	T	10: 129,612,654 (GRCm39)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,247,412 (GRCm39)	Y187F	possibly damaging	Het
Pgc	A	G	17: 48,039,701 (GRCm39)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,321,683 (GRCm39)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,565 (GRCm39)	R46G		Het
Rrbp1	C	A	2: 143,798,712 (GRCm39)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,904,050 (GRCm39)	T676S	probably benign	Het
Setdb1	A	T	3: 95,245,910 (GRCm39)	F672I	probably damaging	Het
Setdb1	T	A	3: 95,254,396 (GRCm39)	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,445,456 (GRCm39)	E450G	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,105,533 (GRCm39)	V667E	unknown	Het
Slc39a3	T	C	10: 80,867,111 (GRCm39)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,722,766 (GRCm39)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,663,680 (GRCm39)	T53M	probably damaging	Het
Snx33	A	G	9: 56,832,624 (GRCm39)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,448,166 (GRCm39)	Q382*	probably null	Het
Sun3	C	A	11: 8,973,376 (GRCm39)	S167I	probably damaging	Het
Sycp2	A	G	2: 177,996,855 (GRCm39)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,888,955 (GRCm39)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 53,016,284 (GRCm39)	Q57*	probably null	Het
Trio	C	G	15: 27,749,952 (GRCm39)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,265,102 (GRCm39)	I204N	probably damaging	Het
Usp4	A	G	9: 108,255,670 (GRCm39)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,566,848 (GRCm39)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Xpo6	G	A	7: 125,768,426 (GRCm39)	L94F	probably benign	Het
Zbtb11	A	G	16: 55,826,383 (GRCm39)	K804R	probably damaging	Het
Zfp616	A	G	11: 73,974,894 (GRCm39)	R479G	probably benign	Het
Zfp661	T	C	2: 127,419,844 (GRCm39)	T99A	probably benign	Het
Zfp839	A	T	12: 110,821,532 (GRCm39)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,046,765 (GRCm39)		probably null	Het

Other mutations in Cyp3a25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Cyp3a25	APN	5	145,938,273 (GRCm39)	nonsense	probably null
IGL00430:Cyp3a25	APN	5	145,930,170 (GRCm39)	missense	probably damaging	1.00
IGL00803:Cyp3a25	APN	5	145,938,253 (GRCm39)	splice site	probably benign
IGL00928:Cyp3a25	APN	5	145,923,764 (GRCm39)	missense	possibly damaging	0.94
IGL01557:Cyp3a25	APN	5	145,921,711 (GRCm39)	missense	probably damaging	1.00
IGL01997:Cyp3a25	APN	5	145,931,766 (GRCm39)	missense	possibly damaging	0.92
IGL02140:Cyp3a25	APN	5	145,946,273 (GRCm39)	splice site	probably benign
IGL02267:Cyp3a25	APN	5	145,935,362 (GRCm39)	missense	possibly damaging	0.48
IGL02272:Cyp3a25	APN	5	145,930,075 (GRCm39)	intron	probably benign
IGL02327:Cyp3a25	APN	5	145,923,731 (GRCm39)	missense	possibly damaging	0.50
IGL02411:Cyp3a25	APN	5	145,938,257 (GRCm39)	critical splice donor site	probably benign
IGL02504:Cyp3a25	APN	5	145,930,141 (GRCm39)	missense	probably benign	0.03
IGL02653:Cyp3a25	APN	5	145,939,920 (GRCm39)	missense	possibly damaging	0.95
R0378:Cyp3a25	UTSW	5	145,923,652 (GRCm39)	missense	probably damaging	1.00
R0403:Cyp3a25	UTSW	5	145,935,323 (GRCm39)	missense	probably damaging	1.00
R0685:Cyp3a25	UTSW	5	145,935,356 (GRCm39)	missense	probably damaging	1.00
R0725:Cyp3a25	UTSW	5	145,931,746 (GRCm39)	missense	probably damaging	1.00
R0798:Cyp3a25	UTSW	5	145,928,343 (GRCm39)	missense	probably damaging	0.98
R1061:Cyp3a25	UTSW	5	145,923,643 (GRCm39)	missense	probably benign
R1519:Cyp3a25	UTSW	5	145,938,257 (GRCm39)	critical splice donor site	probably null
R1628:Cyp3a25	UTSW	5	145,938,273 (GRCm39)	nonsense	probably null
R1822:Cyp3a25	UTSW	5	145,921,763 (GRCm39)	missense	probably damaging	1.00
R1824:Cyp3a25	UTSW	5	145,921,763 (GRCm39)	missense	probably damaging	1.00
R1864:Cyp3a25	UTSW	5	145,931,739 (GRCm39)	missense	probably damaging	0.98
R2062:Cyp3a25	UTSW	5	145,923,779 (GRCm39)	splice site	probably benign
R2401:Cyp3a25	UTSW	5	145,923,778 (GRCm39)	critical splice acceptor site	probably null
R2516:Cyp3a25	UTSW	5	145,939,837 (GRCm39)	splice site	probably null
R3080:Cyp3a25	UTSW	5	145,935,341 (GRCm39)	missense	probably benign	0.33
R3236:Cyp3a25	UTSW	5	145,939,938 (GRCm39)	splice site	probably benign
R3694:Cyp3a25	UTSW	5	145,926,786 (GRCm39)	splice site	probably null
R3730:Cyp3a25	UTSW	5	145,939,891 (GRCm39)	missense	probably damaging	1.00
R4112:Cyp3a25	UTSW	5	145,939,841 (GRCm39)	missense	probably benign	0.18
R4258:Cyp3a25	UTSW	5	145,928,248 (GRCm39)	missense	probably damaging	1.00
R4651:Cyp3a25	UTSW	5	145,931,701 (GRCm39)	missense	probably benign	0.01
R4788:Cyp3a25	UTSW	5	145,921,892 (GRCm39)	nonsense	probably null
R4899:Cyp3a25	UTSW	5	145,914,481 (GRCm39)	missense	possibly damaging	0.59
R4926:Cyp3a25	UTSW	5	145,928,266 (GRCm39)	missense	probably damaging	1.00
R4952:Cyp3a25	UTSW	5	145,928,334 (GRCm39)	missense	probably benign	0.01
R5270:Cyp3a25	UTSW	5	145,918,312 (GRCm39)	missense	probably benign	0.36
R5595:Cyp3a25	UTSW	5	145,931,673 (GRCm39)	critical splice donor site	probably null
R5659:Cyp3a25	UTSW	5	145,928,356 (GRCm39)	missense	possibly damaging	0.69
R5787:Cyp3a25	UTSW	5	145,935,313 (GRCm39)	missense	probably benign	0.14
R6307:Cyp3a25	UTSW	5	145,931,766 (GRCm39)	missense	possibly damaging	0.92
R6380:Cyp3a25	UTSW	5	145,935,357 (GRCm39)	missense	probably damaging	0.99
R7055:Cyp3a25	UTSW	5	145,929,801 (GRCm39)	missense	probably benign	0.00
R7140:Cyp3a25	UTSW	5	145,939,855 (GRCm39)	missense	probably benign
R7189:Cyp3a25	UTSW	5	145,939,870 (GRCm39)	missense	probably benign	0.37
R7201:Cyp3a25	UTSW	5	145,939,868 (GRCm39)	missense	probably benign	0.00
R7201:Cyp3a25	UTSW	5	145,928,257 (GRCm39)	missense	probably benign	0.22
R7332:Cyp3a25	UTSW	5	145,929,817 (GRCm39)	missense	probably damaging	1.00
R7404:Cyp3a25	UTSW	5	145,923,635 (GRCm39)	missense	probably damaging	1.00
R7548:Cyp3a25	UTSW	5	145,923,735 (GRCm39)	missense	probably damaging	0.98
R7607:Cyp3a25	UTSW	5	145,921,791 (GRCm39)	missense	possibly damaging	0.87
R8266:Cyp3a25	UTSW	5	145,929,796 (GRCm39)	missense	probably damaging	1.00
R8894:Cyp3a25	UTSW	5	145,931,670 (GRCm39)	splice site	probably benign
R9249:Cyp3a25	UTSW	5	145,928,356 (GRCm39)	missense	possibly damaging	0.69
R9588:Cyp3a25	UTSW	5	145,921,699 (GRCm39)	missense	probably benign
R9691:Cyp3a25	UTSW	5	145,931,732 (GRCm39)	missense	probably benign	0.41
R9694:Cyp3a25	UTSW	5	145,923,685 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAAGGAAAGTTGAGTATGCCC -3'
(R):5'- ATCCAGTCTCAGTGAATATAAAGGC -3'

Sequencing Primer
(F):5'- GGAAAGTTGAGTATGCCCATATTATG -3'
(R):5'- AAATATGGCTCCTATAGAAGGGTG -3'

Posted On

2020-01-23