Mutagenetix > Incidental Mutation

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

Synonyms

Narg3, LOC381510

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL01896

Quality Score

Status

Chromosome

Chromosomal Location

11261315-11322137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11267752 bp (GRCm39)

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]

AlphaFold

A2AJQ3

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: 29,101,154 (GRCm39)	F509Y	possibly damaging	Het
Acot11	T	A	4: 106,628,564 (GRCm39)	I75F	probably damaging	Het
Atp1a2	T	A	1: 172,113,578 (GRCm39)	N427Y	probably damaging	Het
Cd19	T	C	7: 126,013,522 (GRCm39)	D89G	possibly damaging	Het
Clca3a1	T	A	3: 144,721,438 (GRCm39)	T378S	possibly damaging	Het
Cltc	A	T	11: 86,615,959 (GRCm39)	C436S	probably damaging	Het
Def8	G	A	8: 124,186,634 (GRCm39)	V429M	probably benign	Het
Dnah9	A	T	11: 66,021,492 (GRCm39)	D311E	possibly damaging	Het
Eif4b	T	C	15: 102,003,721 (GRCm39)	S597P	probably benign	Het
Ezh1	A	T	11: 101,104,581 (GRCm39)	N155K	probably benign	Het
Glud1	A	G	14: 34,041,862 (GRCm39)	S157G	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5600	T	C	7: 113,307,221 (GRCm39)		noncoding transcript	Het
Hnf4g	T	A	3: 3,716,470 (GRCm39)	V298E	probably damaging	Het
Hspd1	C	T	1: 55,118,268 (GRCm39)	R446Q	probably benign	Het
Lyst	A	G	13: 13,810,162 (GRCm39)	I611V	probably benign	Het
Map4k3	T	C	17: 80,921,360 (GRCm39)	E524G	probably benign	Het
Mepe	A	G	5: 104,486,135 (GRCm39)	D425G	possibly damaging	Het
Myo1a	G	T	10: 127,555,773 (GRCm39)	V921L	probably benign	Het
Plxdc1	A	T	11: 97,815,408 (GRCm39)	M470K	probably damaging	Het
Prim1	A	G	10: 127,858,758 (GRCm39)	Y222C	probably damaging	Het
Ptpn13	A	G	5: 103,649,389 (GRCm39)	N264S	possibly damaging	Het
Qrsl1	T	C	10: 43,752,500 (GRCm39)	D441G	probably benign	Het
Samd9l	G	T	6: 3,375,120 (GRCm39)	Q714K	probably benign	Het
Scrib	T	C	15: 75,937,967 (GRCm39)	E293G	possibly damaging	Het
Slc12a2	T	A	18: 58,029,380 (GRCm39)	N255K	probably benign	Het
Slc6a6	T	C	6: 91,703,050 (GRCm39)	I141T	probably damaging	Het
Slc9a1	T	C	4: 133,145,370 (GRCm39)	L485P	probably damaging	Het
Slfn8	A	T	11: 82,894,522 (GRCm39)	Y706N	probably damaging	Het
Tlr5	T	C	1: 182,802,444 (GRCm39)	F583L	possibly damaging	Het
Tmprss15	A	G	16: 78,887,678 (GRCm39)	V43A	probably benign	Het
Ttc24	T	C	3: 87,977,720 (GRCm39)		probably null	Het
Ttc7	A	G	17: 87,666,552 (GRCm39)	T606A	probably damaging	Het
Ubap2	G	T	4: 41,202,362 (GRCm39)	P689T	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wfdc8	A	T	2: 164,447,700 (GRCm39)	M120K	probably damaging	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
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

2014-05-07