Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00479:Dpy19l4'

6713

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 #

IGL00479

Quality Score

Status

Chromosome

Chromosomal Location

11261315-11322137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11290411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 327 (M327L)

Ref Sequence

ENSEMBL: ENSMUSP00000081954 (fasta)

Gene Model

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

AlphaFold

A2AJQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000084892
AA Change: M327L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: M327L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128024

SMART Domains

Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139385
AA Change: M141L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: M141L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	C	4: 156,255,029 (GRCm39)		probably benign	Het
Antkmt	A	G	17: 26,010,418 (GRCm39)	Y104H	probably damaging	Het
Arid4a	A	G	12: 71,119,367 (GRCm39)	K651E	probably damaging	Het
Atpaf2	A	T	11: 60,300,410 (GRCm39)		probably null	Het
Cd177	G	T	7: 24,457,440 (GRCm39)	S200R	probably benign	Het
Cd209g	A	T	8: 4,185,622 (GRCm39)	T19S	probably benign	Het
Cxcr4	A	G	1: 128,516,792 (GRCm39)	W290R	probably damaging	Het
D930020B18Rik	T	C	10: 121,521,489 (GRCm39)	L491P	probably damaging	Het
Dnah7a	T	C	1: 53,458,843 (GRCm39)	D3765G	probably damaging	Het
Eya3	G	A	4: 132,431,709 (GRCm39)	G314D	probably damaging	Het
Fmo1	G	A	1: 162,657,632 (GRCm39)	T503I	probably benign	Het
Galnt3	A	G	2: 65,925,628 (GRCm39)	S370P	probably damaging	Het
Gm5431	A	T	11: 48,786,241 (GRCm39)	S45T	probably benign	Het
Gnai3	A	G	3: 108,023,073 (GRCm39)		probably benign	Het
Gpat2	A	G	2: 127,276,381 (GRCm39)	E637G	probably damaging	Het
Gpr84	T	C	15: 103,217,834 (GRCm39)	Y81C	probably damaging	Het
Hnmt	A	T	2: 23,893,896 (GRCm39)	Y199*	probably null	Het
Homer1	G	T	13: 93,483,156 (GRCm39)	R81L	probably damaging	Het
Hspa4	A	T	11: 53,171,544 (GRCm39)		probably null	Het
Marchf6	A	G	15: 31,475,909 (GRCm39)	I649T	probably benign	Het
Mcm8	A	G	2: 132,659,094 (GRCm39)	N26S	probably benign	Het
Mgat5	T	C	1: 127,315,204 (GRCm39)	L310P	probably damaging	Het
Pah	T	C	10: 87,414,755 (GRCm39)	L369P	probably benign	Het
Parp4	A	C	14: 56,853,917 (GRCm39)	K844N	possibly damaging	Het
Tlr5	A	G	1: 182,801,394 (GRCm39)	T233A	probably benign	Het
Tsnaxip1	A	G	8: 106,568,055 (GRCm39)	T274A	probably benign	Het
Wdr48	A	G	9: 119,734,456 (GRCm39)	Y125C	probably damaging	Het

Other mutations in Dpy19l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03357:Dpy19l4	APN	4	11,267,615 (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

2012-04-20