Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Dpy19l4'

387560

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l4

Ensembl Gene

ENSMUSG00000045205

Gene Name

dpy-19-like 4 (C. elegans)

Synonyms

Narg3, LOC381510

MMRRC Submission

042677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11261315-11322137 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11303357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 188 (T188K)

Ref Sequence

ENSEMBL: ENSMUSP00000119923 (fasta)

Gene Model

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

AlphaFold

A2AJQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000084892
AA Change: T188K

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

SMART Domains

Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: T188K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128024
AA Change: T188K

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

SMART Domains

Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205
AA Change: T188K

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: T2K

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

SMART Domains

Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: T2K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142005
AA Change: T188K

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

SMART Domains

Protein: ENSMUSP00000119923
Gene: ENSMUSG00000045205
AA Change: T188K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144941

Meta Mutation Damage Score

0.8419

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,073	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,305,740	R246G	probably benign	Het
Aak1	T	C	6: 86,944,480		probably null	Het
Abcc5	A	G	16: 20,376,662	L695P	probably damaging	Het
Alcam	T	A	16: 52,288,927	T328S	probably damaging	Het
Alpk1	A	G	3: 127,685,320		probably benign	Het
Arel1	A	G	12: 84,924,115	L642P	probably damaging	Het
Atrip	T	C	9: 109,059,896	D741G	probably damaging	Het
Bmp1	T	C	14: 70,486,219	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,894,608		probably null	Het
Cacng5	C	G	11: 107,877,389	C264S	possibly damaging	Het
Calr4	T	A	4: 109,244,662		probably benign	Het
Cdhr1	T	A	14: 37,089,465	T230S	probably benign	Het
Cdk16	T	C	X: 20,696,327		probably benign	Het
Cenpj	T	C	14: 56,553,691	E337G	probably damaging	Het
Chd9	A	G	8: 90,977,519	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,179,535	V360D	probably damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Col5a1	G	A	2: 28,018,602	W67*	probably null	Het
Cyp20a1	A	T	1: 60,363,350	H198L	probably damaging	Het
Dnaic1	T	A	4: 41,597,630	S38T	probably benign	Het
Dnaic1	T	G	4: 41,632,251	S562A	probably benign	Het
Ergic2	A	G	6: 148,183,123	V304A	probably damaging	Het
Fam83a	A	G	15: 58,009,800	T342A	probably benign	Het
Fbxo7	A	G	10: 86,021,920		probably benign	Het
Gins4	T	C	8: 23,237,068	E3G	possibly damaging	Het
Glis3	G	A	19: 28,531,579	P335L	probably benign	Het
Golph3l	A	T	3: 95,617,190	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,657,121	A445V	probably benign	Het
Hykk	A	G	9: 54,946,479	I362V	probably benign	Het
Il6st	G	A	13: 112,490,555	V294M	probably damaging	Het
Itpr1	A	G	6: 108,389,387	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,334,699	L501P	probably benign	Het
Mpi	G	A	9: 57,550,604	T105M	probably damaging	Het
Mrpl37	A	T	4: 107,064,722	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,796,319	T600S	possibly damaging	Het
Npl	A	T	1: 153,509,144	I249N	possibly damaging	Het
Olfr1408	C	T	1: 173,131,039	M59I	probably damaging	Het
Olfr849	A	G	9: 19,441,771	N286S	probably damaging	Het
Pkd1	A	G	17: 24,590,838	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,238,175	N235D	probably benign	Het
Rangap1	A	C	15: 81,710,463	D388E	probably benign	Het
Rcvrn	A	T	11: 67,695,514	Q33L	probably benign	Het
Rif1	A	T	2: 52,092,295	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,899,941	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,712,243	G2411*	probably null	Het
Scn3a	A	T	2: 65,472,299	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,249,129	I784F	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Skint7	T	C	4: 111,980,430	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,431,348	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,701,152		probably null	Het
Spata7	A	T	12: 98,669,502	D527V	probably benign	Het
Srcap	A	G	7: 127,541,661	T1477A	probably benign	Het
Srl	C	A	16: 4,482,769	D375Y	probably damaging	Het
Stk4	A	T	2: 164,083,688	K58*	probably null	Het
Svep1	T	G	4: 58,120,648	H795P	possibly damaging	Het
Trak2	T	A	1: 58,935,808	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,883,904	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,099,303	L52*	probably null	Het
Vmn2r108	A	T	17: 20,470,192	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,257,305	D55G	possibly damaging	Het
Wdr24	T	A	17: 25,828,207		probably null	Het
Zfp13	C	A	17: 23,577,061	E179*	probably null	Het
Zfp839	T	C	12: 110,868,176	S546P	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
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
R8911:Dpy19l4	UTSW	4	11317078	missense	possibly damaging	0.82
R8928:Dpy19l4	UTSW	4	11304674	intron	probably benign
R8955:Dpy19l4	UTSW	4	11290195	missense	probably benign	0.00
R9332:Dpy19l4	UTSW	4	11304298	critical splice donor site	probably null
R9372:Dpy19l4	UTSW	4	11303343	missense	possibly damaging	0.91
R9401:Dpy19l4	UTSW	4	11265806	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- ATCTAAGTTAGTCCCTGTGTGGAG -3'
(R):5'- TGTGTCTTCACTGTGACGTC -3'

Sequencing Primer
(F):5'- GTGTGGAGTCCTACCTAATCGTCAC -3'
(R):5'- ACGTCTGTTTTCCTACGTGG -3'

Posted On

2016-06-06