Mutagenetix > Incidental Mutation

Incidental Mutation 'R7938:Cyp3a16'

648859

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a16

Ensembl Gene

ENSMUSG00000038656

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 16

Synonyms

MMRRC Submission

045984-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R7938 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145373119-145406533 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145389666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 233 (Y233F)

Ref Sequence

ENSEMBL: ENSMUSP00000031633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031633]

AlphaFold

Q64481

Predicted Effect

probably benign
Transcript: ENSMUST00000031633
AA Change: Y233F

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

SMART Domains

Protein: ENSMUSP00000031633
Gene: ENSMUSG00000038656
AA Change: Y233F

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:p450	38	494	5.5e-132	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Bcam	T	G	7: 19,490,738 (GRCm39)	E586D	probably benign	Het
Bmp7	A	C	2: 172,721,283 (GRCm39)	I264S	probably benign	Het
Casz1	G	A	4: 149,028,943 (GRCm39)	M1129I	probably benign	Het
Ccdc59	T	A	10: 105,677,455 (GRCm39)	N31K	probably benign	Het
Cfap61	A	G	2: 145,887,376 (GRCm39)	Y607C	probably benign	Het
Cnga1	T	C	5: 72,761,597 (GRCm39)	E639G	probably benign	Het
Coch	T	A	12: 51,643,366 (GRCm39)		probably null	Het
Col6a6	A	C	9: 105,657,883 (GRCm39)	Y776*	probably null	Het
Cyp1a1	T	G	9: 57,609,073 (GRCm39)	L318R	probably damaging	Het
Dgkz	G	T	2: 91,795,817 (GRCm39)	R42S	probably damaging	Het
Dner	A	G	1: 84,673,218 (GRCm39)	Y78H	possibly damaging	Het
Fat2	T	C	11: 55,163,922 (GRCm39)	N3111S	probably damaging	Het
Frmpd2	T	C	14: 33,260,246 (GRCm39)	S768P	probably benign	Het
Gm45861	T	A	8: 28,071,990 (GRCm39)	N1269K	unknown	Het
Gpr12	T	A	5: 146,520,094 (GRCm39)	Y276F	possibly damaging	Het
Hace1	C	T	10: 45,562,792 (GRCm39)	P769L	probably benign	Het
Hapln1	G	A	13: 89,753,347 (GRCm39)	R171H	probably damaging	Het
Hlx	T	G	1: 184,464,125 (GRCm39)	T72P	probably benign	Het
Iqcm	G	T	8: 76,304,596 (GRCm39)	C119F	probably benign	Het
Katna1	G	T	10: 7,637,075 (GRCm39)	A409S	probably benign	Het
Kcnip2	A	T	19: 45,782,729 (GRCm39)	I204N	probably damaging	Het
Kel	G	T	6: 41,675,310 (GRCm39)	Q314K	probably benign	Het
Klf5	T	C	14: 99,536,444 (GRCm39)	V5A	probably damaging	Het
Lax1	A	T	1: 133,607,896 (GRCm39)	C282S	probably benign	Het
Lyar	A	G	5: 38,388,295 (GRCm39)	T274A	probably benign	Het
Mboat1	A	G	13: 30,415,959 (GRCm39)	H306R	possibly damaging	Het
Morn5	A	T	2: 35,947,082 (GRCm39)	Y120F	probably benign	Het
Mrgprx2	T	C	7: 48,132,240 (GRCm39)	T193A	probably benign	Het
Myh10	T	A	11: 68,583,327 (GRCm39)	W8R	unknown	Het
Nfasc	A	G	1: 132,533,269 (GRCm39)	V644A	probably damaging	Het
Nup153	G	T	13: 46,842,855 (GRCm39)		probably null	Het
Nup50l	T	C	6: 96,141,866 (GRCm39)	K393E	possibly damaging	Het
Or1o4	T	A	17: 37,590,991 (GRCm39)	M107L	probably benign	Het
Or4x6	A	T	2: 89,949,173 (GRCm39)	Y256*	probably null	Het
Or5h19	A	T	16: 58,856,325 (GRCm39)	Y258*	probably null	Het
Orc4	A	T	2: 48,800,203 (GRCm39)	V315E	possibly damaging	Het
Pcsk5	T	A	19: 17,443,549 (GRCm39)		probably null	Het
Pif1	A	G	9: 65,502,073 (GRCm39)	D635G	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppfia2	A	G	10: 106,310,648 (GRCm39)	T52A	probably damaging	Het
Ppp1r36	A	T	12: 76,485,180 (GRCm39)	D301V	probably damaging	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Qser1	A	C	2: 104,619,312 (GRCm39)	V410G	probably damaging	Het
Reln	A	C	5: 22,155,870 (GRCm39)	N2207K	probably damaging	Het
Rimkla	A	G	4: 119,327,810 (GRCm39)	V180A	probably benign	Het
Rpa1	CA	C	11: 75,198,050 (GRCm39)		probably null	Het
Rsph3a	G	T	17: 8,165,050 (GRCm39)	E137*	probably null	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Sqle	C	A	15: 59,196,315 (GRCm39)	H369Q	probably damaging	Het
Srebf2	T	A	15: 82,057,016 (GRCm39)	D250E	probably damaging	Het
Svs3b	A	T	2: 164,097,567 (GRCm39)	C251*	probably null	Het
Tdrd9	A	T	12: 111,997,649 (GRCm39)	N713Y	possibly damaging	Het
Terf2ip	T	C	8: 112,738,717 (GRCm39)	S202P	possibly damaging	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trav8-1	T	G	14: 53,707,688 (GRCm39)	D109E	possibly damaging	Het
Trem2	T	A	17: 48,658,777 (GRCm39)	S181T	probably benign	Het
Trim37	A	G	11: 87,037,863 (GRCm39)	N199S	probably benign	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ubxn8	A	G	8: 34,111,712 (GRCm39)	M227T	probably damaging	Het
Uggt2	T	A	14: 119,296,519 (GRCm39)	I448F	possibly damaging	Het
Usp47	T	A	7: 111,687,132 (GRCm39)	L697M	probably damaging	Het
Vmn2r52	T	C	7: 9,893,300 (GRCm39)	D613G	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Zfp423	T	C	8: 88,622,304 (GRCm39)	Y11C	unknown	Het
Zw10	T	A	9: 48,982,933 (GRCm39)	D521E	probably benign	Het

Other mutations in Cyp3a16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Cyp3a16	APN	5	145,377,244 (GRCm39)	missense	probably damaging	0.98
IGL01964:Cyp3a16	APN	5	145,392,372 (GRCm39)	missense	probably benign	0.41
IGL02007:Cyp3a16	APN	5	145,378,758 (GRCm39)	splice site	probably benign
IGL02139:Cyp3a16	APN	5	145,392,290 (GRCm39)	missense	probably benign	0.10
IGL02177:Cyp3a16	APN	5	145,386,964 (GRCm39)	missense	probably benign	0.43
IGL02407:Cyp3a16	APN	5	145,388,652 (GRCm39)	missense	probably damaging	0.99
IGL02473:Cyp3a16	APN	5	145,377,304 (GRCm39)	missense	possibly damaging	0.54
polywog	UTSW	5	145,404,280 (GRCm39)	nonsense	probably null
R0363:Cyp3a16	UTSW	5	145,392,689 (GRCm39)	splice site	probably benign
R0556:Cyp3a16	UTSW	5	145,392,790 (GRCm39)	missense	probably benign	0.37
R0557:Cyp3a16	UTSW	5	145,406,398 (GRCm39)	missense	unknown
R0636:Cyp3a16	UTSW	5	145,399,895 (GRCm39)	missense	probably benign	0.03
R0749:Cyp3a16	UTSW	5	145,392,987 (GRCm39)	critical splice acceptor site	probably null
R0788:Cyp3a16	UTSW	5	145,401,886 (GRCm39)	missense	probably benign	0.00
R1552:Cyp3a16	UTSW	5	145,373,346 (GRCm39)	missense	probably benign	0.01
R1575:Cyp3a16	UTSW	5	145,373,267 (GRCm39)	missense	probably benign	0.01
R1580:Cyp3a16	UTSW	5	145,378,885 (GRCm39)	missense	probably damaging	1.00
R1580:Cyp3a16	UTSW	5	145,378,884 (GRCm39)	missense	possibly damaging	0.94
R1642:Cyp3a16	UTSW	5	145,406,399 (GRCm39)	missense	unknown
R1763:Cyp3a16	UTSW	5	145,401,841 (GRCm39)	critical splice donor site	probably null
R2029:Cyp3a16	UTSW	5	145,388,667 (GRCm39)	missense	probably damaging	0.96
R2144:Cyp3a16	UTSW	5	145,392,894 (GRCm39)	missense	probably damaging	1.00
R2409:Cyp3a16	UTSW	5	145,377,177 (GRCm39)	missense	probably benign	0.01
R2473:Cyp3a16	UTSW	5	145,392,404 (GRCm39)	missense	possibly damaging	0.79
R2860:Cyp3a16	UTSW	5	145,392,309 (GRCm39)	nonsense	probably null
R2861:Cyp3a16	UTSW	5	145,392,309 (GRCm39)	nonsense	probably null
R3747:Cyp3a16	UTSW	5	145,378,881 (GRCm39)	missense	probably damaging	1.00
R4654:Cyp3a16	UTSW	5	145,373,267 (GRCm39)	missense	probably benign	0.01
R4781:Cyp3a16	UTSW	5	145,392,922 (GRCm39)	missense	possibly damaging	0.85
R4873:Cyp3a16	UTSW	5	145,389,659 (GRCm39)	missense	probably benign	0.01
R4875:Cyp3a16	UTSW	5	145,389,659 (GRCm39)	missense	probably benign	0.01
R4925:Cyp3a16	UTSW	5	145,389,644 (GRCm39)	missense	probably benign	0.00
R5365:Cyp3a16	UTSW	5	145,389,597 (GRCm39)	missense	probably damaging	1.00
R5496:Cyp3a16	UTSW	5	145,404,341 (GRCm39)	missense	probably damaging	1.00
R5640:Cyp3a16	UTSW	5	145,389,633 (GRCm39)	missense	possibly damaging	0.94
R5761:Cyp3a16	UTSW	5	145,378,843 (GRCm39)	missense	possibly damaging	0.79
R6401:Cyp3a16	UTSW	5	145,377,174 (GRCm39)	missense	probably damaging	1.00
R6526:Cyp3a16	UTSW	5	145,392,705 (GRCm39)	missense	probably benign	0.01
R6528:Cyp3a16	UTSW	5	145,377,241 (GRCm39)	missense	probably damaging	1.00
R7000:Cyp3a16	UTSW	5	145,399,980 (GRCm39)	critical splice acceptor site	probably null
R7268:Cyp3a16	UTSW	5	145,404,280 (GRCm39)	nonsense	probably null
R7630:Cyp3a16	UTSW	5	145,373,120 (GRCm39)	splice site	probably null
R8827:Cyp3a16	UTSW	5	145,387,008 (GRCm39)	missense	probably benign	0.38
R9040:Cyp3a16	UTSW	5	145,392,922 (GRCm39)	missense	possibly damaging	0.85
R9137:Cyp3a16	UTSW	5	145,406,413 (GRCm39)	missense	unknown
R9139:Cyp3a16	UTSW	5	145,406,434 (GRCm39)	missense	unknown
R9140:Cyp3a16	UTSW	5	145,406,434 (GRCm39)	missense	unknown
R9284:Cyp3a16	UTSW	5	145,377,304 (GRCm39)	missense	probably damaging	1.00
R9657:Cyp3a16	UTSW	5	145,386,979 (GRCm39)	missense	probably null	1.00
R9680:Cyp3a16	UTSW	5	145,389,690 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTACATGTTCACAGACC -3'
(R):5'- CTGAATCCAAATGAACTCCAGG -3'

Sequencing Primer
(F):5'- TGTTCACAGACCAACATGTTATC -3'
(R):5'- TGGCTACTCCAAAGTGCAG -3'

Posted On

2020-09-15