Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01758:Dpy19l4'

153475

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpy19l4

Ensembl Gene

ENSMUSG00000045205

Gene Name

dpy-19-like 4 (C. elegans)

Synonyms

Narg3, LOC381510

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL01758

Quality Score

Status

Chromosome

Chromosomal Location

11261315-11322137 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11265846 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 475 (T475S)

Ref Sequence

ENSEMBL: ENSMUSP00000115537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084892] [ENSMUST00000139385]

Predicted Effect

probably damaging
Transcript: ENSMUST00000084892
AA Change: T701S

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

SMART Domains

Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: T701S

Domain	Start	End	E-Value	Type
Pfam:Dpy19	59	714	3e-213	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139385
AA Change: T475S

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

SMART Domains

Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: T475S

Domain	Start	End	E-Value	Type
Pfam:Dpy19	1	258	3.2e-71	PFAM
Pfam:Dpy19	254	488	7e-70	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 120,010,819	D860G	possibly damaging	Het
Acot7	T	C	4: 152,217,793	C121R	probably damaging	Het
Adam19	A	T	11: 46,112,924	H193L	probably benign	Het
AI661453	T	A	17: 47,466,623		probably benign	Het
Bod1l	T	C	5: 41,826,610		probably benign	Het
Brd4	T	C	17: 32,212,829		probably benign	Het
Capn12	G	A	7: 28,886,623		probably null	Het
Cdh18	A	G	15: 23,474,183	Q713R	probably benign	Het
Cfap52	A	T	11: 67,953,580	L103Q	possibly damaging	Het
Fat2	A	T	11: 55,296,209	D1270E	probably damaging	Het
Hfm1	T	C	5: 106,904,793	K275E	probably damaging	Het
Ift172	T	C	5: 31,280,714	D426G	probably benign	Het
Mrc1	T	C	2: 14,238,248	S62P	probably damaging	Het
Olfr275	G	T	4: 52,825,468	E24*	probably null	Het
Olfr914	T	A	9: 38,607,293	I276K	probably damaging	Het
Ptgs2	A	T	1: 150,101,989		probably null	Het
Rxfp1	T	A	3: 79,652,216	I433F	possibly damaging	Het
Sbf1	C	T	15: 89,303,215		probably benign	Het
Serpinb13	T	G	1: 107,000,754	F368C	probably damaging	Het
Slc9c1	T	A	16: 45,541,461	S80R	probably damaging	Het
Spats2l	G	T	1: 57,879,556	V30L	probably damaging	Het
Stat1	A	G	1: 52,136,921	E195G	probably damaging	Het
Tbx5	T	A	5: 119,844,958		probably benign	Het
Tmem165	A	G	5: 76,204,163	T164A	probably damaging	Het
Trim66	A	T	7: 109,486,045		probably null	Het
Trip10	T	A	17: 57,261,409	V405E	possibly damaging	Het
Vmn2r92	T	A	17: 18,152,013	C28*	probably null	Het
Wdr60	G	A	12: 116,218,798	P728L	possibly damaging	Het
Zbtb8a	C	T	4: 129,357,847	C277Y	probably damaging	Het
Zfp638	T	C	6: 83,979,526	F1705S	probably damaging	Het

Other mutations in Dpy19l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Dpy19l4	APN	4	11290411	missense	probably benign	0.00
IGL01402:Dpy19l4	APN	4	11273006	critical splice donor site	probably null
IGL01404:Dpy19l4	APN	4	11273006	critical splice donor site	probably null
IGL01643:Dpy19l4	APN	4	11290184	splice site	probably benign
IGL01896:Dpy19l4	APN	4	11267752	missense	possibly damaging	0.81
IGL02222:Dpy19l4	APN	4	11281116	missense	possibly damaging	0.93
IGL02314:Dpy19l4	APN	4	11267720	missense	possibly damaging	0.50
IGL02422:Dpy19l4	APN	4	11265803	missense	possibly damaging	0.95
IGL02565:Dpy19l4	APN	4	11309440	missense	probably benign	0.14
IGL03121:Dpy19l4	APN	4	11303334	missense	probably damaging	1.00
IGL03357:Dpy19l4	APN	4	11267615	missense	probably damaging	1.00
IGL03368:Dpy19l4	APN	4	11290253	missense	possibly damaging	0.53
R0003:Dpy19l4	UTSW	4	11267619	missense	probably damaging	1.00
R0481:Dpy19l4	UTSW	4	11272993	splice site	probably benign
R0506:Dpy19l4	UTSW	4	11289715	missense	probably benign	0.07
R1114:Dpy19l4	UTSW	4	11287643	splice site	probably benign
R1332:Dpy19l4	UTSW	4	11276901	missense	probably damaging	1.00
R1336:Dpy19l4	UTSW	4	11276901	missense	probably damaging	1.00
R1355:Dpy19l4	UTSW	4	11303371	nonsense	probably null
R1421:Dpy19l4	UTSW	4	11304011	missense	probably benign	0.09
R1422:Dpy19l4	UTSW	4	11317168	missense	possibly damaging	0.88
R1465:Dpy19l4	UTSW	4	11296034	missense	probably damaging	1.00
R1465:Dpy19l4	UTSW	4	11296034	missense	probably damaging	1.00
R1766:Dpy19l4	UTSW	4	11303360	missense	probably damaging	1.00
R1803:Dpy19l4	UTSW	4	11281020	missense	possibly damaging	0.81
R2090:Dpy19l4	UTSW	4	11304344	missense	probably benign	0.34
R2324:Dpy19l4	UTSW	4	11276857	unclassified	probably benign
R2446:Dpy19l4	UTSW	4	11304143	splice site	probably null
R3769:Dpy19l4	UTSW	4	11276868	splice site	probably null
R4151:Dpy19l4	UTSW	4	11309485	missense	possibly damaging	0.89
R4472:Dpy19l4	UTSW	4	11304053	missense	possibly damaging	0.91
R4609:Dpy19l4	UTSW	4	11295999	nonsense	probably null
R4708:Dpy19l4	UTSW	4	11277970	missense	probably benign	0.00
R4722:Dpy19l4	UTSW	4	11290521	missense	possibly damaging	0.84
R4997:Dpy19l4	UTSW	4	11287493	missense	probably benign	0.01
R5085:Dpy19l4	UTSW	4	11265943	critical splice acceptor site	probably null
R5088:Dpy19l4	UTSW	4	11303357	missense	probably damaging	1.00
R5288:Dpy19l4	UTSW	4	11289721	missense	probably damaging	1.00
R5288:Dpy19l4	UTSW	4	11304014	missense	probably damaging	1.00
R5413:Dpy19l4	UTSW	4	11289700	missense	probably damaging	1.00
R5758:Dpy19l4	UTSW	4	11276886	missense	probably damaging	1.00
R6024:Dpy19l4	UTSW	4	11276876	missense	probably damaging	1.00
R6312:Dpy19l4	UTSW	4	11289671	nonsense	probably null
R6339:Dpy19l4	UTSW	4	11285111	missense	probably damaging	0.98
R7055:Dpy19l4	UTSW	4	11290291	critical splice acceptor site	probably null
R7359:Dpy19l4	UTSW	4	11273125	missense	probably benign	0.00
R7525:Dpy19l4	UTSW	4	11317160	nonsense	probably null
R7579:Dpy19l4	UTSW	4	11265909	missense	probably benign	0.39
R7913:Dpy19l4	UTSW	4	11265859	nonsense	probably null
R8047:Dpy19l4	UTSW	4	11317139	missense	probably benign	0.00
R8049:Dpy19l4	UTSW	4	11303982	missense	probably benign	0.44

Posted On

2014-02-04