Mutagenetix > Incidental Mutation

Incidental Mutation 'R0705:Dpy19l3'

63116

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l3

Ensembl Gene

ENSMUSG00000043671

Gene Name

dpy-19 like C-mannosyltransferase 3

Synonyms

9330164H19Rik

MMRRC Submission

038888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R0705 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

35384925-35453879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35394741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 599 (Y599F)

Ref Sequence

ENSEMBL: ENSMUSP00000054747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051377] [ENSMUST00000143590]

AlphaFold

Q71B07

Predicted Effect

probably damaging
Transcript: ENSMUST00000051377
AA Change: Y599F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: Y599F

Domain	Start	End	E-Value	Type
Pfam:Dpy19	55	712	2.2e-243	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143590

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic4	G	T	1: 75,428,014 (GRCm39)	C180F	probably damaging	Het
Ccdc106	G	A	7: 5,062,539 (GRCm39)	D11N	possibly damaging	Het
Crebbp	A	C	16: 3,972,874 (GRCm39)	S273R	possibly damaging	Het
Ecpas	A	T	4: 58,885,366 (GRCm39)		probably null	Het
Fam234b	A	T	6: 135,204,213 (GRCm39)	D452V	probably benign	Het
Fbxw22	G	T	9: 109,232,164 (GRCm39)	H78N	possibly damaging	Het
Hpgd	T	C	8: 56,748,074 (GRCm39)	V65A	probably damaging	Het
Impg1	A	T	9: 80,287,261 (GRCm39)	L395Q	probably damaging	Het
Kcnq5	A	G	1: 21,605,401 (GRCm39)	M168T	probably damaging	Het
Spink5	T	A	18: 44,125,341 (GRCm39)	M403K	probably benign	Het
Ssxb9	T	G	X: 8,238,022 (GRCm39)	S130R	probably damaging	Het

Other mutations in Dpy19l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Dpy19l3	APN	7	35,392,192 (GRCm39)	splice site	probably benign
IGL01351:Dpy19l3	APN	7	35,426,840 (GRCm39)	splice site	probably benign
IGL01622:Dpy19l3	APN	7	35,422,169 (GRCm39)	missense	probably damaging	1.00
IGL01623:Dpy19l3	APN	7	35,422,169 (GRCm39)	missense	probably damaging	1.00
IGL01645:Dpy19l3	APN	7	35,394,763 (GRCm39)	missense	probably benign	0.00
IGL02725:Dpy19l3	APN	7	35,411,343 (GRCm39)	missense	probably benign	0.01
IGL02817:Dpy19l3	APN	7	35,392,233 (GRCm39)	missense	probably damaging	1.00
IGL03130:Dpy19l3	APN	7	35,452,097 (GRCm39)	missense	probably benign	0.00
IGL03178:Dpy19l3	APN	7	35,429,154 (GRCm39)	nonsense	probably null
IGL03374:Dpy19l3	APN	7	35,411,633 (GRCm39)	missense	possibly damaging	0.82
R0143:Dpy19l3	UTSW	7	35,413,640 (GRCm39)	missense	probably benign	0.19
R0164:Dpy19l3	UTSW	7	35,416,071 (GRCm39)	missense	probably damaging	0.98
R0164:Dpy19l3	UTSW	7	35,416,071 (GRCm39)	missense	probably damaging	0.98
R0385:Dpy19l3	UTSW	7	35,452,130 (GRCm39)	missense	probably damaging	0.97
R1489:Dpy19l3	UTSW	7	35,424,835 (GRCm39)	nonsense	probably null
R1640:Dpy19l3	UTSW	7	35,449,203 (GRCm39)	missense	probably benign	0.41
R1782:Dpy19l3	UTSW	7	35,407,580 (GRCm39)	missense	possibly damaging	0.94
R1843:Dpy19l3	UTSW	7	35,429,185 (GRCm39)	missense	probably damaging	1.00
R2096:Dpy19l3	UTSW	7	35,426,713 (GRCm39)	critical splice donor site	probably null
R3814:Dpy19l3	UTSW	7	35,426,717 (GRCm39)	nonsense	probably null
R4438:Dpy19l3	UTSW	7	35,392,284 (GRCm39)	missense	probably damaging	1.00
R4537:Dpy19l3	UTSW	7	35,411,326 (GRCm39)	missense	probably benign	0.01
R4735:Dpy19l3	UTSW	7	35,422,146 (GRCm39)	missense	probably benign	0.00
R4737:Dpy19l3	UTSW	7	35,402,926 (GRCm39)	missense	probably damaging	1.00
R4864:Dpy19l3	UTSW	7	35,411,607 (GRCm39)	nonsense	probably null
R4915:Dpy19l3	UTSW	7	35,452,167 (GRCm39)	utr 5 prime	probably benign
R4920:Dpy19l3	UTSW	7	35,407,467 (GRCm39)	intron	probably benign
R5300:Dpy19l3	UTSW	7	35,426,735 (GRCm39)	missense	probably damaging	1.00
R5527:Dpy19l3	UTSW	7	35,413,555 (GRCm39)	missense	possibly damaging	0.95
R5801:Dpy19l3	UTSW	7	35,424,723 (GRCm39)	missense	probably benign	0.10
R6815:Dpy19l3	UTSW	7	35,449,272 (GRCm39)	missense	possibly damaging	0.67
R7150:Dpy19l3	UTSW	7	35,408,055 (GRCm39)	missense	probably benign
R7198:Dpy19l3	UTSW	7	35,449,190 (GRCm39)	missense	possibly damaging	0.73
R7378:Dpy19l3	UTSW	7	35,452,067 (GRCm39)	missense	probably benign	0.10
R7625:Dpy19l3	UTSW	7	35,452,106 (GRCm39)	missense	probably benign
R7641:Dpy19l3	UTSW	7	35,394,734 (GRCm39)	missense	probably damaging	1.00
R7674:Dpy19l3	UTSW	7	35,394,734 (GRCm39)	missense	probably damaging	1.00
R8034:Dpy19l3	UTSW	7	35,449,281 (GRCm39)	missense	probably benign
R8073:Dpy19l3	UTSW	7	35,429,173 (GRCm39)	missense	probably damaging	1.00
R8183:Dpy19l3	UTSW	7	35,394,814 (GRCm39)	missense	probably damaging	0.96
R8206:Dpy19l3	UTSW	7	35,429,155 (GRCm39)	missense	probably damaging	1.00
R9299:Dpy19l3	UTSW	7	35,424,752 (GRCm39)	nonsense	probably null
R9765:Dpy19l3	UTSW	7	35,408,056 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATCAGGATTCGACAGCCCCATGC -3'
(R):5'- CTTCTCATTGGAGAGCTGGATGCC -3'

Sequencing Primer
(F):5'- GACAGCCCCATGCCCTTATG -3'
(R):5'- gggctacacgtaccatgag -3'

Posted On

2013-07-30