Mutagenetix > Incidental Mutations

Incidental Mutation 'R5758:Dpy19l4'

445133

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l4

Ensembl Gene

ENSMUSG00000045205

Gene Name

dpy-19-like 4 (C. elegans)

Synonyms

Narg3, LOC381510

MMRRC Submission

043203-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11261315-11322137 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11276886 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 338 (V338M)

Ref Sequence

ENSEMBL: ENSMUSP00000115537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084892] [ENSMUST00000128024] [ENSMUST00000139385] [ENSMUST00000142005]

Predicted Effect

probably damaging
Transcript: ENSMUST00000084892
AA Change: V564M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: V564M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128024
AA Change: V520M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205
AA Change: V520M

Domain	Start	End	E-Value	Type
Pfam:Dpy19	58	293	1e-89	PFAM
Pfam:Dpy19	291	524	4.8e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139385
AA Change: V338M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: V338M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142005

SMART Domains

Protein: ENSMUSP00000119923
Gene: ENSMUSG00000045205

Domain	Start	End	E-Value	Type
Pfam:Dpy19	58	253	6.9e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158560

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,314,536	N2973D	probably damaging	Het
Acan	A	T	7: 79,101,214	E1911V	possibly damaging	Het
Adamts20	T	C	15: 94,394,650	N193S	probably benign	Het
AF067063	T	C	13: 119,828,255	D135G	probably damaging	Het
Arhgap28	T	C	17: 67,873,159	D81G	probably benign	Het
Calhm3	A	G	19: 47,151,751	V301A	probably damaging	Het
Celsr1	C	T	15: 85,941,264	G1556D	probably benign	Het
Cfap221	A	G	1: 119,934,558	L598P	probably benign	Het
Col6a6	T	C	9: 105,761,518		probably null	Het
Dmxl2	T	A	9: 54,472,964	I142F	probably benign	Het
Dpys	A	C	15: 39,826,999	D319E	possibly damaging	Het
Dsc3	A	G	18: 19,989,534	V111A	probably damaging	Het
Galnt5	T	C	2: 57,998,430	V14A	probably benign	Het
Hebp2	C	A	10: 18,544,407	V93L	probably damaging	Het
Igkv8-21	A	T	6: 70,315,025	S78T	possibly damaging	Het
Jak2	T	A	19: 29,309,643	D1036E	probably damaging	Het
Kazn	A	G	4: 142,141,671		probably null	Het
Kif9	T	C	9: 110,489,879	V143A	probably damaging	Het
Lhcgr	T	C	17: 88,742,548	I517V	probably damaging	Het
Llgl1	T	C	11: 60,708,567	F458S	probably damaging	Het
Mrgprb3	C	A	7: 48,643,319	M161I	probably benign	Het
Muc5b	A	T	7: 141,858,983	I1889F	unknown	Het
Mysm1	A	G	4: 94,952,361	V606A	probably damaging	Het
Nipal3	T	C	4: 135,452,563	D348G	probably benign	Het
Olfml2b	G	A	1: 170,669,264		probably null	Het
Olfr467	T	C	7: 107,814,815	V77A	probably damaging	Het
Olfr497	T	A	7: 108,423,162	V197D	probably benign	Het
Orc5	T	C	5: 22,529,258	D176G	possibly damaging	Het
Rapgef6	A	G	11: 54,668,644	N1041S	probably damaging	Het
Ryr3	G	A	2: 112,841,975	R1384C	probably damaging	Het
Sar1a	A	G	10: 61,685,072	Y22C	probably benign	Het
Shcbp1	T	C	8: 4,749,355		probably null	Het
Smim17	C	T	7: 6,424,789	H25Y	possibly damaging	Het
Trim10	C	T	17: 36,877,152	T420I	possibly damaging	Het
Trip13	G	T	13: 73,937,495	S29R	probably benign	Het
Tubgcp5	C	T	7: 55,818,895	R713C	probably damaging	Het
Uckl1	C	A	2: 181,569,953	G420C	probably damaging	Het
Vangl1	A	T	3: 102,184,092	V226D	probably damaging	Het
Zdhhc17	A	G	10: 110,944,395	*633Q	probably null	Het
Zfhx4	A	G	3: 5,402,620	K2613E	probably damaging	Het
Zfp236	G	A	18: 82,671,709	T215M	probably damaging	Het
Zfp563	A	G	17: 33,104,920	H163R	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGAAGAAAGGGTCTCCAAC -3'
(R):5'- GGCAATGTTGACATGTCAGC -3'

Sequencing Primer
(F):5'- ACTCTCAGACTTACCAAGGTTG -3'
(R):5'- CATGTCAGCATGCTTCAAGG -3'

Posted On

2016-11-21