Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03357:Dpy19l4'

419983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpy19l4

Ensembl Gene

ENSMUSG00000045205

Gene Name

dpy-19 like 4

Synonyms

Narg3, LOC381510

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL03357

Quality Score

Status

Chromosome

Chromosomal Location

11261315-11322137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11267615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 442 (H442Y)

Ref Sequence

ENSEMBL: ENSMUSP00000115537 (fasta)

Gene Model

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

AlphaFold

A2AJQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000084892
AA Change: H668Y

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

SMART Domains

Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: H668Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000139385
AA Change: H442Y

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

SMART Domains

Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: H442Y

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	T	19: 8,986,689 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,799,233 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,859,936 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,171,062 (GRCm39)	R47Q	probably benign	Het
Clmp	A	G	9: 40,597,623 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,987,740 (GRCm39)	G245R	probably damaging	Het
Cyp4a32	T	A	4: 115,468,798 (GRCm39)	S395T	probably benign	Het
Dcc	A	T	18: 71,460,625 (GRCm39)	I1155K	probably damaging	Het
Dpys	T	C	15: 39,687,612 (GRCm39)	I395M	probably damaging	Het
Dpysl2	T	C	14: 67,050,736 (GRCm39)	K374E	probably damaging	Het
Fryl	A	T	5: 73,211,402 (GRCm39)	D660E	probably damaging	Het
Gabrb2	T	C	11: 42,482,771 (GRCm39)	F210L	probably damaging	Het
Gm4831	C	T	17: 37,422,879 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,243,632 (GRCm39)	M234K	probably benign	Het
Ints11	T	C	4: 155,956,581 (GRCm39)		probably benign	Het
Mex3a	T	A	3: 88,443,553 (GRCm39)	S210T	probably benign	Het
Or4k42	C	T	2: 111,320,289 (GRCm39)	M71I	probably benign	Het
Or4k52	G	A	2: 111,610,871 (GRCm39)	V69I	probably benign	Het
Pde1c	A	G	6: 56,157,078 (GRCm39)	V106A	probably damaging	Het
Pitpnm3	G	A	11: 71,961,716 (GRCm39)	Q284*	probably null	Het
Pkd1l2	A	G	8: 117,722,548 (GRCm39)	L2420P	probably damaging	Het
Prpf39	A	G	12: 65,108,211 (GRCm39)		probably benign	Het
Prss28	C	T	17: 25,528,669 (GRCm39)	T37I	probably benign	Het
Serpinb6c	A	T	13: 34,079,369 (GRCm39)	S108T	probably benign	Het
Snx7	T	C	3: 117,632,524 (GRCm39)	H131R	probably damaging	Het
Tex101	A	T	7: 24,367,758 (GRCm39)	I198K	probably damaging	Het
Thoc2l	T	G	5: 104,668,334 (GRCm39)	V952G	probably damaging	Het
Thumpd2	T	C	17: 81,351,519 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,791,763 (GRCm39)	I109S	probably benign	Het
Zfp212	A	T	6: 47,907,771 (GRCm39)	N250I	probably benign	Het

Other mutations in Dpy19l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Dpy19l4	APN	4	11,290,411 (GRCm39)	missense	probably benign	0.00
IGL01402:Dpy19l4	APN	4	11,273,006 (GRCm39)	critical splice donor site	probably null
IGL01404:Dpy19l4	APN	4	11,273,006 (GRCm39)	critical splice donor site	probably null
IGL01643:Dpy19l4	APN	4	11,290,184 (GRCm39)	splice site	probably benign
IGL01758:Dpy19l4	APN	4	11,265,846 (GRCm39)	missense	probably damaging	1.00
IGL01896:Dpy19l4	APN	4	11,267,752 (GRCm39)	missense	possibly damaging	0.81
IGL02222:Dpy19l4	APN	4	11,281,116 (GRCm39)	missense	possibly damaging	0.93
IGL02314:Dpy19l4	APN	4	11,267,720 (GRCm39)	missense	possibly damaging	0.50
IGL02422:Dpy19l4	APN	4	11,265,803 (GRCm39)	missense	possibly damaging	0.95
IGL02565:Dpy19l4	APN	4	11,309,440 (GRCm39)	missense	probably benign	0.14
IGL03121:Dpy19l4	APN	4	11,303,334 (GRCm39)	missense	probably damaging	1.00
IGL03368:Dpy19l4	APN	4	11,290,253 (GRCm39)	missense	possibly damaging	0.53
R0003:Dpy19l4	UTSW	4	11,267,619 (GRCm39)	missense	probably damaging	1.00
R0481:Dpy19l4	UTSW	4	11,272,993 (GRCm39)	splice site	probably benign
R0506:Dpy19l4	UTSW	4	11,289,715 (GRCm39)	missense	probably benign	0.07
R1114:Dpy19l4	UTSW	4	11,287,643 (GRCm39)	splice site	probably benign
R1332:Dpy19l4	UTSW	4	11,276,901 (GRCm39)	missense	probably damaging	1.00
R1336:Dpy19l4	UTSW	4	11,276,901 (GRCm39)	missense	probably damaging	1.00
R1355:Dpy19l4	UTSW	4	11,303,371 (GRCm39)	nonsense	probably null
R1421:Dpy19l4	UTSW	4	11,304,011 (GRCm39)	missense	probably benign	0.09
R1422:Dpy19l4	UTSW	4	11,317,168 (GRCm39)	missense	possibly damaging	0.88
R1465:Dpy19l4	UTSW	4	11,296,034 (GRCm39)	missense	probably damaging	1.00
R1465:Dpy19l4	UTSW	4	11,296,034 (GRCm39)	missense	probably damaging	1.00
R1766:Dpy19l4	UTSW	4	11,303,360 (GRCm39)	missense	probably damaging	1.00
R1803:Dpy19l4	UTSW	4	11,281,020 (GRCm39)	missense	possibly damaging	0.81
R2090:Dpy19l4	UTSW	4	11,304,344 (GRCm39)	missense	probably benign	0.34
R2324:Dpy19l4	UTSW	4	11,276,857 (GRCm39)	unclassified	probably benign
R2446:Dpy19l4	UTSW	4	11,304,143 (GRCm39)	splice site	probably null
R3769:Dpy19l4	UTSW	4	11,276,868 (GRCm39)	splice site	probably null
R4151:Dpy19l4	UTSW	4	11,309,485 (GRCm39)	missense	possibly damaging	0.89
R4472:Dpy19l4	UTSW	4	11,304,053 (GRCm39)	missense	possibly damaging	0.91
R4609:Dpy19l4	UTSW	4	11,295,999 (GRCm39)	nonsense	probably null
R4708:Dpy19l4	UTSW	4	11,277,970 (GRCm39)	missense	probably benign	0.00
R4722:Dpy19l4	UTSW	4	11,290,521 (GRCm39)	missense	possibly damaging	0.84
R4997:Dpy19l4	UTSW	4	11,287,493 (GRCm39)	missense	probably benign	0.01
R5085:Dpy19l4	UTSW	4	11,265,943 (GRCm39)	critical splice acceptor site	probably null
R5088:Dpy19l4	UTSW	4	11,303,357 (GRCm39)	missense	probably damaging	1.00
R5288:Dpy19l4	UTSW	4	11,304,014 (GRCm39)	missense	probably damaging	1.00
R5288:Dpy19l4	UTSW	4	11,289,721 (GRCm39)	missense	probably damaging	1.00
R5413:Dpy19l4	UTSW	4	11,289,700 (GRCm39)	missense	probably damaging	1.00
R5758:Dpy19l4	UTSW	4	11,276,886 (GRCm39)	missense	probably damaging	1.00
R6024:Dpy19l4	UTSW	4	11,276,876 (GRCm39)	missense	probably damaging	1.00
R6312:Dpy19l4	UTSW	4	11,289,671 (GRCm39)	nonsense	probably null
R6339:Dpy19l4	UTSW	4	11,285,111 (GRCm39)	missense	probably damaging	0.98
R7055:Dpy19l4	UTSW	4	11,290,291 (GRCm39)	critical splice acceptor site	probably null
R7359:Dpy19l4	UTSW	4	11,273,125 (GRCm39)	missense	probably benign	0.00
R7525:Dpy19l4	UTSW	4	11,317,160 (GRCm39)	nonsense	probably null
R7579:Dpy19l4	UTSW	4	11,265,909 (GRCm39)	missense	probably benign	0.39
R7913:Dpy19l4	UTSW	4	11,265,859 (GRCm39)	nonsense	probably null
R8047:Dpy19l4	UTSW	4	11,317,139 (GRCm39)	missense	probably benign	0.00
R8049:Dpy19l4	UTSW	4	11,303,982 (GRCm39)	missense	probably benign	0.44
R8495:Dpy19l4	UTSW	4	11,267,659 (GRCm39)	missense	probably benign
R8911:Dpy19l4	UTSW	4	11,317,078 (GRCm39)	missense	possibly damaging	0.82
R8928:Dpy19l4	UTSW	4	11,304,674 (GRCm39)	intron	probably benign
R8955:Dpy19l4	UTSW	4	11,290,195 (GRCm39)	missense	probably benign	0.00
R9332:Dpy19l4	UTSW	4	11,304,298 (GRCm39)	critical splice donor site	probably null
R9372:Dpy19l4	UTSW	4	11,303,343 (GRCm39)	missense	possibly damaging	0.91
R9401:Dpy19l4	UTSW	4	11,265,806 (GRCm39)	missense	probably benign	0.29

Posted On

2016-08-02