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: 0.065) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145977194-146009618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145977668 bp (GRCm38)

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: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	Het

Other mutations in Cyp3a25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Cyp3a25	APN	5	146001463	nonsense	probably null
IGL00430:Cyp3a25	APN	5	145993360	missense	probably damaging	1.00
IGL00803:Cyp3a25	APN	5	146001443	splice site	probably benign
IGL00928:Cyp3a25	APN	5	145986954	missense	possibly damaging	0.94
IGL01557:Cyp3a25	APN	5	145984901	missense	probably damaging	1.00
IGL01997:Cyp3a25	APN	5	145994956	missense	possibly damaging	0.92
IGL02140:Cyp3a25	APN	5	146009463	splice site	probably benign
IGL02267:Cyp3a25	APN	5	145998552	missense	possibly damaging	0.48
IGL02272:Cyp3a25	APN	5	145993265	intron	probably benign
IGL02327:Cyp3a25	APN	5	145986921	missense	possibly damaging	0.50
IGL02411:Cyp3a25	APN	5	146001447	critical splice donor site	probably benign
IGL02504:Cyp3a25	APN	5	145993331	missense	probably benign	0.03
IGL02653:Cyp3a25	APN	5	146003110	missense	possibly damaging	0.95
R0378:Cyp3a25	UTSW	5	145986842	missense	probably damaging	1.00
R0403:Cyp3a25	UTSW	5	145998513	missense	probably damaging	1.00
R0685:Cyp3a25	UTSW	5	145998546	missense	probably damaging	1.00
R0725:Cyp3a25	UTSW	5	145994936	missense	probably damaging	1.00
R0798:Cyp3a25	UTSW	5	145991533	missense	probably damaging	0.98
R1061:Cyp3a25	UTSW	5	145986833	missense	probably benign
R1519:Cyp3a25	UTSW	5	146001447	critical splice donor site	probably null
R1628:Cyp3a25	UTSW	5	146001463	nonsense	probably null
R1822:Cyp3a25	UTSW	5	145984953	missense	probably damaging	1.00
R1824:Cyp3a25	UTSW	5	145984953	missense	probably damaging	1.00
R1864:Cyp3a25	UTSW	5	145994929	missense	probably damaging	0.98
R2062:Cyp3a25	UTSW	5	145986969	splice site	probably benign
R2401:Cyp3a25	UTSW	5	145986968	critical splice acceptor site	probably null
R2516:Cyp3a25	UTSW	5	146003027	splice site	probably null
R3080:Cyp3a25	UTSW	5	145998531	missense	probably benign	0.33
R3236:Cyp3a25	UTSW	5	146003128	splice site	probably benign
R3694:Cyp3a25	UTSW	5	145989976	splice site	probably null
R3730:Cyp3a25	UTSW	5	146003081	missense	probably damaging	1.00
R4112:Cyp3a25	UTSW	5	146003031	missense	probably benign	0.18
R4258:Cyp3a25	UTSW	5	145991438	missense	probably damaging	1.00
R4651:Cyp3a25	UTSW	5	145994891	missense	probably benign	0.01
R4788:Cyp3a25	UTSW	5	145985082	nonsense	probably null
R4899:Cyp3a25	UTSW	5	145977671	missense	possibly damaging	0.59
R4926:Cyp3a25	UTSW	5	145991456	missense	probably damaging	1.00
R4952:Cyp3a25	UTSW	5	145991524	missense	probably benign	0.01
R5270:Cyp3a25	UTSW	5	145981502	missense	probably benign	0.36
R5595:Cyp3a25	UTSW	5	145994863	critical splice donor site	probably null
R5659:Cyp3a25	UTSW	5	145991546	missense	possibly damaging	0.69
R5787:Cyp3a25	UTSW	5	145998503	missense	probably benign	0.14
R6307:Cyp3a25	UTSW	5	145994956	missense	possibly damaging	0.92
R6380:Cyp3a25	UTSW	5	145998547	missense	probably damaging	0.99
R7055:Cyp3a25	UTSW	5	145992991	missense	probably benign	0.00
R7140:Cyp3a25	UTSW	5	146003045	missense	probably benign
R7189:Cyp3a25	UTSW	5	146003060	missense	probably benign	0.37
R7201:Cyp3a25	UTSW	5	145991447	missense	probably benign	0.22
R7201:Cyp3a25	UTSW	5	146003058	missense	probably benign	0.00
R7332:Cyp3a25	UTSW	5	145993007	missense	probably damaging	1.00
R7404:Cyp3a25	UTSW	5	145986825	missense	probably damaging	1.00
R7548:Cyp3a25	UTSW	5	145986925	missense	probably damaging	0.98
R7607:Cyp3a25	UTSW	5	145984981	missense	possibly damaging	0.87
R8266:Cyp3a25	UTSW	5	145992986	missense	probably damaging	1.00
R8894:Cyp3a25	UTSW	5	145994860	splice site	probably benign
R9249:Cyp3a25	UTSW	5	145991546	missense	possibly damaging	0.69
R9588:Cyp3a25	UTSW	5	145984889	missense	probably benign
R9691:Cyp3a25	UTSW	5	145994922	missense	probably benign	0.41
R9694:Cyp3a25	UTSW	5	145986875	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