Mutagenetix > Incidental Mutation

Incidental Mutation 'R5857:Cyp4f16'

454981

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f16

Ensembl Gene

ENSMUSG00000048440

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 16

Synonyms

MMRRC Submission

044069-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32536558-32551798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32537024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 9 (L9Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003416] [ENSMUST00000165515] [ENSMUST00000169252] [ENSMUST00000169591]

AlphaFold

Q99N17

Predicted Effect

probably damaging
Transcript: ENSMUST00000003416
AA Change: L9Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: L9Q

Domain	Start	End	E-Value	Type
Pfam:p450	52	515	4.7e-133	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164628

Predicted Effect

probably damaging
Transcript: ENSMUST00000165515
AA Change: L9Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126845
Gene: ENSMUSG00000048440
AA Change: L9Q

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169252
AA Change: L9Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128349
Gene: ENSMUSG00000048440
AA Change: L9Q

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169591
AA Change: L9Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: L9Q

Domain	Start	End	E-Value	Type
Pfam:p450	52	515	4.7e-133	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170956

Meta Mutation Damage Score

0.4502

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,449,525 (GRCm38)	I266V	probably benign	Het
Anks6	C	T	4: 47,039,736 (GRCm38)	A492T	possibly damaging	Het
Ano1	A	T	7: 144,637,103 (GRCm38)	C415S	probably benign	Het
Anxa3	T	A	5: 96,828,792 (GRCm38)		probably null	Het
Apob	T	C	12: 8,015,397 (GRCm38)	V4089A	probably benign	Het
Arhgap23	C	T	11: 97,451,579 (GRCm38)	A229V	possibly damaging	Het
Atad5	T	C	11: 80,131,329 (GRCm38)	F1447L	probably benign	Het
Btbd8	T	A	5: 107,461,532 (GRCm38)	D212E	probably damaging	Het
Ccdc38	G	T	10: 93,562,833 (GRCm38)	A58S	possibly damaging	Het
Cep112	T	C	11: 108,531,471 (GRCm38)		probably benign	Het
Col4a2	G	A	8: 11,425,442 (GRCm38)	G622D	probably damaging	Het
Crhbp	T	A	13: 95,442,232 (GRCm38)	Q134L	probably benign	Het
Ctnnbl1	T	C	2: 157,789,098 (GRCm38)	S145P	probably damaging	Het
Dchs2	T	G	3: 83,270,313 (GRCm38)	I891S	possibly damaging	Het
Disp3	A	T	4: 148,249,183 (GRCm38)	V1066D	probably benign	Het
Dlgap1	A	G	17: 70,815,393 (GRCm38)		probably benign	Het
Dnah3	TTCCTC	TTC	7: 119,951,021 (GRCm38)		probably benign	Het
Efl1	T	A	7: 82,763,189 (GRCm38)	C929S	probably benign	Het
Fam129b	T	A	2: 32,909,908 (GRCm38)	N82K	probably benign	Het
Gatb	T	C	3: 85,575,932 (GRCm38)	F82S	probably damaging	Het
Gk5	C	A	9: 96,119,455 (GRCm38)	S2*	probably null	Het
Gpr135	G	A	12: 72,070,840 (GRCm38)	A51V	probably benign	Het
Hoxa9	T	A	6: 52,224,297 (GRCm38)	N255Y	probably damaging	Het
Igkv8-18	T	C	6: 70,355,920 (GRCm38)	V15A	probably benign	Het
Ism2	T	C	12: 87,280,061 (GRCm38)	D368G	probably damaging	Het
Krtap6-2	A	T	16: 89,419,642 (GRCm38)	S146T	unknown	Het
Lama1	T	A	17: 67,807,843 (GRCm38)	L2329H	probably damaging	Het
Llgl2	T	A	11: 115,850,281 (GRCm38)	I507N	probably damaging	Het
Lmna	GCTGCCCACAC	GC	3: 88,482,531 (GRCm38)		probably benign	Het
Lrfn3	A	T	7: 30,359,438 (GRCm38)	I454N	possibly damaging	Het
Mdn1	C	A	4: 32,670,646 (GRCm38)	T437K	probably benign	Het
Nat8f3	T	C	6: 85,761,753 (GRCm38)	Y9C	probably damaging	Het
Nlrp4d	C	A	7: 10,382,377 (GRCm38)	G156V	noncoding transcript	Het
Npnt	A	T	3: 132,908,349 (GRCm38)	C167S	probably damaging	Het
Nr3c2	A	G	8: 76,908,867 (GRCm38)	N199S	possibly damaging	Het
Olfr248	T	G	1: 174,391,108 (GRCm38)	I13R	possibly damaging	Het
Olfr870	C	T	9: 20,171,239 (GRCm38)	D111N	probably damaging	Het
Olfr884	T	G	9: 38,047,753 (GRCm38)	V177G	probably benign	Het
Pabpc1l	T	A	2: 164,044,255 (GRCm38)		probably null	Het
Pi4ka	A	G	16: 17,358,984 (GRCm38)	I366T	probably benign	Het
Prl7a1	A	T	13: 27,640,701 (GRCm38)	D50E	probably damaging	Het
Rad52	T	G	6: 119,911,007 (GRCm38)		probably null	Het
Rbm19	T	A	5: 120,132,942 (GRCm38)	L610Q	probably damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Scube1	G	T	15: 83,607,260 (GRCm38)		probably benign	Het
Sptbn4	G	T	7: 27,418,713 (GRCm38)	R314S	possibly damaging	Het
Togaram1	T	A	12: 64,995,557 (GRCm38)	I1130K	possibly damaging	Het
Tsc2	T	C	17: 24,600,007 (GRCm38)	E1352G	probably damaging	Het
Ube2d2a	A	G	18: 35,805,543 (GRCm38)	T142A	probably benign	Het
Vps18	T	C	2: 119,297,533 (GRCm38)	Y946H	probably damaging	Het

Other mutations in Cyp4f16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02941:Cyp4f16	APN	17	32,537,087 (GRCm38)	missense	possibly damaging	0.75
IGL03400:Cyp4f16	APN	17	32,550,353 (GRCm38)	missense	probably benign	0.00
R0437:Cyp4f16	UTSW	17	32,537,098 (GRCm38)	missense	possibly damaging	0.46
R0454:Cyp4f16	UTSW	17	32,537,087 (GRCm38)	missense	probably damaging	0.97
R0482:Cyp4f16	UTSW	17	32,550,551 (GRCm38)	missense	probably damaging	1.00
R1422:Cyp4f16	UTSW	17	32,542,999 (GRCm38)	missense	probably damaging	0.99
R1435:Cyp4f16	UTSW	17	32,550,734 (GRCm38)	nonsense	probably null
R1440:Cyp4f16	UTSW	17	32,550,734 (GRCm38)	nonsense	probably null
R1616:Cyp4f16	UTSW	17	32,542,968 (GRCm38)	nonsense	probably null
R1840:Cyp4f16	UTSW	17	32,543,006 (GRCm38)	critical splice donor site	probably null
R1854:Cyp4f16	UTSW	17	32,537,099 (GRCm38)	missense	probably damaging	0.99
R1912:Cyp4f16	UTSW	17	32,545,044 (GRCm38)	missense	probably damaging	0.99
R2200:Cyp4f16	UTSW	17	32,537,104 (GRCm38)	missense	probably damaging	0.98
R3803:Cyp4f16	UTSW	17	32,544,884 (GRCm38)	missense	possibly damaging	0.96
R4811:Cyp4f16	UTSW	17	32,545,106 (GRCm38)	missense	probably benign
R4812:Cyp4f16	UTSW	17	32,546,678 (GRCm38)	missense	probably null	1.00
R4837:Cyp4f16	UTSW	17	32,542,764 (GRCm38)	missense	possibly damaging	0.59
R4867:Cyp4f16	UTSW	17	32,550,750 (GRCm38)	missense	possibly damaging	0.94
R4909:Cyp4f16	UTSW	17	32,550,321 (GRCm38)	missense	possibly damaging	0.46
R5986:Cyp4f16	UTSW	17	32,544,142 (GRCm38)	missense	probably benign	0.45
R6013:Cyp4f16	UTSW	17	32,546,678 (GRCm38)	missense	probably null	1.00
R6408:Cyp4f16	UTSW	17	32,551,199 (GRCm38)	missense	probably damaging	1.00
R6651:Cyp4f16	UTSW	17	32,544,144 (GRCm38)	missense	probably benign	0.00
R7463:Cyp4f16	UTSW	17	32,550,787 (GRCm38)	missense	possibly damaging	0.89
R7923:Cyp4f16	UTSW	17	32,546,747 (GRCm38)	missense	possibly damaging	0.67
R9622:Cyp4f16	UTSW	17	32,550,272 (GRCm38)	missense	probably damaging	1.00
RF005:Cyp4f16	UTSW	17	32,545,195 (GRCm38)	splice site	probably null
X0017:Cyp4f16	UTSW	17	32,544,936 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAACAGCTCTTGTCTGTGTG -3'
(R):5'- ATACTCACCATGCCCAAGTG -3'

Sequencing Primer
(F):5'- AGCTCTTGTCTGTGTGTTCCCTG -3'
(R):5'- CCATGCCCAAGTGACCTG -3'

Posted On

2017-02-10