Mutagenetix > Incidental Mutation

Incidental Mutation 'R7923:Cyp4f16'

648577

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f16

Ensembl Gene

ENSMUSG00000048440

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 16

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7923 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32536558-32551798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32546747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 368 (E368G)

Ref Sequence

ENSEMBL: ENSMUSP00000003416 (fasta)

Gene Model

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

AlphaFold

Q99N17

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003416
AA Change: E368G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: E368G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165515

SMART Domains

Protein: ENSMUSP00000126845
Gene: ENSMUSG00000048440

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169252

SMART Domains

Protein: ENSMUSP00000128349
Gene: ENSMUSG00000048440

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169591
AA Change: E368G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: E368G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 72,444,911	T54M	probably damaging	Het
4932443I19Rik	A	C	8: 13,738,456	H140P	unknown	Het
Aacs	T	A	5: 125,511,884	S409T	probably damaging	Het
Atf6	T	C	1: 170,794,706	M449V	probably benign	Het
B4galt1	C	T	4: 40,809,373	G332S	probably benign	Het
Bcl11a	G	T	11: 24,163,680	R341M	probably damaging	Het
Brf2	G	A	8: 27,124,190	Q323*	probably null	Het
Bscl2	T	C	19: 8,847,519	V322A	probably benign	Het
Btnl9	T	C	11: 49,180,738	Y86C	probably damaging	Het
C4b	T	A	17: 34,742,380	I202F	probably damaging	Het
Cbfb	T	A	8: 105,194,593		probably null	Het
Cc2d2b	T	A	19: 40,806,849	Y963N	possibly damaging	Het
Cep135	A	T	5: 76,609,692	D391V	possibly damaging	Het
Col12a1	A	G	9: 79,678,493	V1228A	probably benign	Het
Cr2	T	A	1: 195,168,687	Y157F	probably benign	Het
Creg2	C	T	1: 39,650,903	G13E	probably benign	Het
Cul5	G	T	9: 53,624,166	A595E	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Eps15	G	A	4: 109,315,872	D177N	possibly damaging	Het
Erbb4	C	T	1: 68,259,209	R684H	probably damaging	Het
Ermp1	C	T	19: 29,628,658	V419I	probably benign	Het
Foxi3	T	C	6: 70,960,716	S311P	probably benign	Het
Fras1	C	T	5: 96,739,318	A2653V	probably damaging	Het
Gbp3	A	T	3: 142,567,612	N307Y	probably damaging	Het
Ggcx	G	A	6: 72,427,917	R436Q	probably damaging	Het
Gimap3	A	T	6: 48,765,627	V123D	probably benign	Het
Gm14326	A	T	2: 177,945,887	Y439N	probably damaging	Het
Gm4756	G	T	12: 72,619,358	Q180K	probably benign	Het
Gm5591	A	G	7: 38,521,914	S244P	probably benign	Het
Gm9507	A	T	10: 77,811,537	C103S	unknown	Het
Guf1	G	A	5: 69,561,159	V214I	probably benign	Het
Ido2	T	C	8: 24,576,193	Y19C	probably damaging	Het
Idua	T	C	5: 108,680,583	S268P	probably damaging	Het
Igf1r	T	C	7: 68,190,101	Y719H	probably damaging	Het
Itgb4	A	T	11: 115,982,699		probably null	Het
Kctd19	T	A	8: 105,385,058	T868S	probably damaging	Het
Lonrf2	A	T	1: 38,800,762	H417Q	probably benign	Het
Lrp2	T	C	2: 69,438,388	T4184A	possibly damaging	Het
Mapk15	T	C	15: 75,996,446	F219S	probably damaging	Het
Myh7b	A	T	2: 155,625,966	Y808F	probably benign	Het
Myo19	T	G	11: 84,885,710	F64C	possibly damaging	Het
Mysm1	A	T	4: 94,961,765	V434D	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nbeal2	A	T	9: 110,631,446	Y1780*	probably null	Het
Ndc80	A	T	17: 71,496,301	M615K	probably benign	Het
Nfkbib	C	A	7: 28,766,263	V54F	probably damaging	Het
Npy5r	A	G	8: 66,681,752	F130L	probably damaging	Het
Nt5c3	T	C	6: 56,883,042	E304G	probably benign	Het
Odaph	A	G	5: 91,994,699	D40G	possibly damaging	Het
Olfr1389	C	T	11: 49,430,605	T43I	probably benign	Het
Olfr1469	T	C	19: 13,410,818	M83T	probably benign	Het
Olfr695	T	A	7: 106,714,442	K80*	probably null	Het
Olfr974	A	T	9: 39,942,967	K236*	probably null	Het
Palm3	T	A	8: 84,029,461	I534K	probably benign	Het
Pde10a	A	G	17: 8,929,132	N89S	probably benign	Het
Piezo1	T	C	8: 122,496,444	K870E		Het
Pik3c2g	T	C	6: 139,633,793		probably null	Het
Pnpla6	T	A	8: 3,531,737	Y662*	probably null	Het
Proser3	A	T	7: 30,549,661	F2Y	possibly damaging	Het
Psma5	A	G	3: 108,265,129	I54V	probably benign	Het
Qrich2	C	A	11: 116,457,337	G887V	probably damaging	Het
Rdx	A	G	9: 52,065,901	D150G	possibly damaging	Het
Reln	C	T	5: 22,134,692	V221I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Samd14	A	G	11: 95,023,458		probably null	Het
Scimp	A	T	11: 70,791,515	I125N	possibly damaging	Het
Sec23a	A	G	12: 58,992,247	F289L	probably damaging	Het
Sipa1l3	G	A	7: 29,339,146	Q1408*	probably null	Het
Skor2	T	C	18: 76,858,721	L46P	unknown	Het
Slc12a1	A	T	2: 125,214,092	I848F	possibly damaging	Het
Slc47a1	A	G	11: 61,363,403	L211P	probably damaging	Het
Slc7a10	T	C	7: 35,195,129	V71A	probably damaging	Het
Smco1	C	A	16: 32,274,047	Q179K	possibly damaging	Het
Smg1	A	G	7: 118,143,322	L3223P	possibly damaging	Het
Smpdl3a	T	C	10: 57,801,045	S80P	probably damaging	Het
Spire2	A	G	8: 123,332,987	R75G	probably benign	Het
Sptbn2	T	A	19: 4,746,799	H1808Q	probably benign	Het
Srgap2	T	C	1: 131,300,413	E720G	possibly damaging	Het
Ssfa2	G	T	2: 79,662,615	E1169*	probably null	Het
Supv3l1	T	C	10: 62,445,081	D177G	probably damaging	Het
Syne1	C	T	10: 5,264,738	E3215K	probably damaging	Het
Szt2	A	G	4: 118,373,840	V2548A	unknown	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Washc2	A	G	6: 116,226,424	E384G	possibly damaging	Het
Zfp712	T	A	13: 67,042,185	N93Y	probably benign	Het

Other mutations in Cyp4f16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02941:Cyp4f16	APN	17	32537087	missense	possibly damaging	0.75
IGL03400:Cyp4f16	APN	17	32550353	missense	probably benign	0.00
R0437:Cyp4f16	UTSW	17	32537098	missense	possibly damaging	0.46
R0454:Cyp4f16	UTSW	17	32537087	missense	probably damaging	0.97
R0482:Cyp4f16	UTSW	17	32550551	missense	probably damaging	1.00
R1422:Cyp4f16	UTSW	17	32542999	missense	probably damaging	0.99
R1435:Cyp4f16	UTSW	17	32550734	nonsense	probably null
R1440:Cyp4f16	UTSW	17	32550734	nonsense	probably null
R1616:Cyp4f16	UTSW	17	32542968	nonsense	probably null
R1840:Cyp4f16	UTSW	17	32543006	critical splice donor site	probably null
R1854:Cyp4f16	UTSW	17	32537099	missense	probably damaging	0.99
R1912:Cyp4f16	UTSW	17	32545044	missense	probably damaging	0.99
R2200:Cyp4f16	UTSW	17	32537104	missense	probably damaging	0.98
R3803:Cyp4f16	UTSW	17	32544884	missense	possibly damaging	0.96
R4811:Cyp4f16	UTSW	17	32545106	missense	probably benign
R4812:Cyp4f16	UTSW	17	32546678	missense	probably null	1.00
R4837:Cyp4f16	UTSW	17	32542764	missense	possibly damaging	0.59
R4867:Cyp4f16	UTSW	17	32550750	missense	possibly damaging	0.94
R4909:Cyp4f16	UTSW	17	32550321	missense	possibly damaging	0.46
R5857:Cyp4f16	UTSW	17	32537024	missense	probably damaging	1.00
R5986:Cyp4f16	UTSW	17	32544142	missense	probably benign	0.45
R6013:Cyp4f16	UTSW	17	32546678	missense	probably null	1.00
R6408:Cyp4f16	UTSW	17	32551199	missense	probably damaging	1.00
R6651:Cyp4f16	UTSW	17	32544144	missense	probably benign	0.00
R7463:Cyp4f16	UTSW	17	32550787	missense	possibly damaging	0.89
R9622:Cyp4f16	UTSW	17	32550272	missense	probably damaging	1.00
RF005:Cyp4f16	UTSW	17	32545195	splice site	probably null
X0017:Cyp4f16	UTSW	17	32544936	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGAGAGACCTAGACTCCCTC -3'
(R):5'- CAAAACCTAACTAGCTATGTGAGAC -3'

Sequencing Primer
(F):5'- GGATACAAGTGCCCCATTTTG -3'
(R):5'- GTAATCCAGCCTGAGCTA -3'

Posted On

2020-09-15