Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01896:Dpy19l4'

179413

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: 0.085) question?

Stock #

IGL01896

Quality Score

Status

Chromosome

Chromosomal Location

11261315-11322137 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11267752 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 396 (K396R)

Ref Sequence

ENSEMBL: ENSMUSP00000115537 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084892
AA Change: K622R

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: K622R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139385
AA Change: K396R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: K396R

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,225,158	F509Y	possibly damaging	Het
Acot11	T	A	4: 106,771,367	I75F	probably damaging	Het
Atp1a2	T	A	1: 172,286,011	N427Y	probably damaging	Het
Cd19	T	C	7: 126,414,350	D89G	possibly damaging	Het
Clca1	T	A	3: 145,015,677	T378S	possibly damaging	Het
Cltc	A	T	11: 86,725,133	C436S	probably damaging	Het
Def8	G	A	8: 123,459,895	V429M	probably benign	Het
Dnah9	A	T	11: 66,130,666	D311E	possibly damaging	Het
Eif4b	T	C	15: 102,095,286	S597P	probably benign	Het
Ezh1	A	T	11: 101,213,755	N155K	probably benign	Het
Glud1	A	G	14: 34,319,905	S157G	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm5600	T	C	7: 113,707,984		noncoding transcript	Het
Hnf4g	T	A	3: 3,651,410	V298E	probably damaging	Het
Hspd1	C	T	1: 55,079,109	R446Q	probably benign	Het
Lyst	A	G	13: 13,635,577	I611V	probably benign	Het
Map4k3	T	C	17: 80,613,931	E524G	probably benign	Het
Mepe	A	G	5: 104,338,269	D425G	possibly damaging	Het
Myo1a	G	T	10: 127,719,904	V921L	probably benign	Het
Plxdc1	A	T	11: 97,924,582	M470K	probably damaging	Het
Prim1	A	G	10: 128,022,889	Y222C	probably damaging	Het
Ptpn13	A	G	5: 103,501,523	N264S	possibly damaging	Het
Qrsl1	T	C	10: 43,876,504	D441G	probably benign	Het
Samd9l	G	T	6: 3,375,120	Q714K	probably benign	Het
Scrib	T	C	15: 76,066,118	E293G	possibly damaging	Het
Slc12a2	T	A	18: 57,896,308	N255K	probably benign	Het
Slc6a6	T	C	6: 91,726,069	I141T	probably damaging	Het
Slc9a1	T	C	4: 133,418,059	L485P	probably damaging	Het
Slfn8	A	T	11: 83,003,696	Y706N	probably damaging	Het
Tlr5	T	C	1: 182,974,879	F583L	possibly damaging	Het
Tmprss15	A	G	16: 79,090,790	V43A	probably benign	Het
Ttc24	T	C	3: 88,070,413		probably null	Het
Ttc7	A	G	17: 87,359,124	T606A	probably damaging	Het
Ubap2	G	T	4: 41,202,362	P689T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wfdc8	A	T	2: 164,605,780	M120K	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
IGL01758:Dpy19l4	APN	4	11265846	missense	probably damaging	1.00
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
R8495:Dpy19l4	UTSW	4	11267659	missense	probably benign

Posted On

2014-05-07