Mutagenetix > Incidental Mutation

Incidental Mutation 'R2473:Cyp3a16'

253219

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a16

Ensembl Gene

ENSMUSG00000038656

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 16

Synonyms

MMRRC Submission

040404-MU

Accession Numbers

Essential gene?

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

Stock #

R2473 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145373119-145406533 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145392404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 184 (I184F)

Ref Sequence

ENSEMBL: ENSMUSP00000031633 (fasta)

Gene Model

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

AlphaFold

Q64481

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031633
AA Change: I184F

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031633
Gene: ENSMUSG00000038656
AA Change: I184F

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b4	T	G	2: 126,200,814 (GRCm39)	K785Q	possibly damaging	Het
Cacnb2	G	A	2: 14,989,125 (GRCm39)	D402N	probably damaging	Het
Ephb4	T	A	5: 137,363,962 (GRCm39)	D611E	probably benign	Het
Habp2	G	A	19: 56,276,464 (GRCm39)	V13M	possibly damaging	Het
Mamdc4	C	A	2: 25,456,344 (GRCm39)	G713V	probably damaging	Het
Marveld2	C	T	13: 100,733,829 (GRCm39)	V269M	probably damaging	Het
Mbd5	T	A	2: 49,169,353 (GRCm39)	M1508K	probably benign	Het
Mgp	T	C	6: 136,850,162 (GRCm39)		probably null	Het
Mucl2	C	G	15: 103,927,628 (GRCm39)	E110Q	possibly damaging	Het
Mxra8	T	C	4: 155,926,500 (GRCm39)	F286S	probably damaging	Het
Or2t46	A	G	11: 58,472,401 (GRCm39)	T244A	probably damaging	Het
Or4g16	T	C	2: 111,137,236 (GRCm39)	S229P	probably damaging	Het
Or52h9	T	C	7: 104,202,146 (GRCm39)	Y7H	possibly damaging	Het
Or5p70	C	T	7: 107,994,711 (GRCm39)	A128V	probably damaging	Het
Pax3	C	T	1: 78,099,227 (GRCm39)		probably null	Het
Polm	T	C	11: 5,779,881 (GRCm39)	E339G	possibly damaging	Het
Sec14l4	T	A	11: 3,993,359 (GRCm39)	V218E	probably benign	Het
Sf3b1	C	T	1: 55,038,785 (GRCm39)		probably null	Het
Six4	A	G	12: 73,150,949 (GRCm39)	V532A	probably benign	Het
Slc35c1	T	A	2: 92,285,098 (GRCm39)	D172V	probably benign	Het
Ttc39a	A	T	4: 109,299,436 (GRCm39)	I428F	probably damaging	Het
Zfp414	CAAACTCTTCCGA	CAAACTCTTCCGAAACTCTTCCGA	17: 33,849,551 (GRCm39)		probably null	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
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
R7938:Cyp3a16	UTSW	5	145,389,666 (GRCm39)	missense	probably benign	0.00
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'- CCACTACAGTTGATCATTTGGGG -3'
(R):5'- ACATGGTCCAGCTGCTTGTC -3'

Sequencing Primer
(F):5'- ACAGTTGATCATTTGGGGAAATTGAG -3'
(R):5'- TGCCCCTTTAGACACTAGATGAC -3'

Posted On

2014-12-04