Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01713:Dpy19l1'

278785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpy19l1

Ensembl Gene

ENSMUSG00000043067

Gene Name

dpy-19 like C-mannosyltransferase 1

Synonyms

1100001I19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

IGL01713

Quality Score

Status

Chromosome

Chromosomal Location

24323074-24414436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24396365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 117 (R117Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115277] [ENSMUST00000142064] [ENSMUST00000170356]

AlphaFold

A6X919

Predicted Effect

probably benign
Transcript: ENSMUST00000115277

SMART Domains

Protein: ENSMUSP00000110932
Gene: ENSMUSG00000043067

Domain	Start	End	E-Value	Type
Pfam:Dpy19	10	549	1.6e-212	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129048

Predicted Effect

probably damaging
Transcript: ENSMUST00000142064
AA Change: R117Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: R117Q

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	42	69	N/A	INTRINSIC
Pfam:Dpy19	99	743	2e-247	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170356
AA Change: R117Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: R117Q

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	42	69	N/A	INTRINSIC
Pfam:Dpy19	98	743	5.5e-264	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	A	G	7: 130,740,772 (GRCm39)	I148T	possibly damaging	Het
Aipl1	A	G	11: 71,927,449 (GRCm39)	C89R	probably damaging	Het
Apaf1	G	A	10: 90,897,694 (GRCm39)		probably benign	Het
Atp7b	A	G	8: 22,518,589 (GRCm39)	V83A	probably damaging	Het
Ccdc180	G	T	4: 45,921,025 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,946,512 (GRCm39)	I418V	possibly damaging	Het
Cyp26b1	G	A	6: 84,551,283 (GRCm39)	P427L	probably benign	Het
Dnal4	A	G	15: 79,646,606 (GRCm39)	Y92H	probably damaging	Het
Epha3	G	A	16: 63,372,925 (GRCm39)	T926I	probably benign	Het
Fgg	T	C	3: 82,915,723 (GRCm39)	S55P	probably benign	Het
Gosr1	A	T	11: 76,645,582 (GRCm39)	M66K	probably benign	Het
Igkv12-89	G	T	6: 68,812,296 (GRCm39)		probably benign	Het
Map3k12	T	C	15: 102,410,756 (GRCm39)	E451G	probably damaging	Het
Phkg1	T	C	5: 129,895,714 (GRCm39)	E179G	probably benign	Het
Pnpla1	A	T	17: 29,100,579 (GRCm39)	D482V	possibly damaging	Het
Pramel1	T	C	4: 143,123,652 (GRCm39)	V109A	probably benign	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Pus7l	T	C	15: 94,429,493 (GRCm39)	T442A	probably benign	Het
Sall3	A	G	18: 81,013,062 (GRCm39)	S1125P	probably damaging	Het
Scyl2	A	C	10: 89,490,087 (GRCm39)	I150S	probably damaging	Het
Sf1	T	A	19: 6,424,319 (GRCm39)		probably null	Het
Slco1a6	A	G	6: 142,032,293 (GRCm39)	S611P	possibly damaging	Het
Vmn2r103	G	T	17: 20,014,330 (GRCm39)	C374F	probably damaging	Het
Xntrpc	T	C	7: 101,733,059 (GRCm39)		probably benign	Het

Other mutations in Dpy19l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Dpy19l1	APN	9	24,393,226 (GRCm39)	missense	probably damaging	0.99
IGL00788:Dpy19l1	APN	9	24,373,864 (GRCm39)	splice site	probably benign
IGL00959:Dpy19l1	APN	9	24,334,493 (GRCm39)	splice site	probably null
IGL01646:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01647:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01715:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01743:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL01912:Dpy19l1	APN	9	24,396,365 (GRCm39)	missense	probably damaging	0.99
IGL02417:Dpy19l1	APN	9	24,386,682 (GRCm39)	missense	possibly damaging	0.48
IGL02629:Dpy19l1	APN	9	24,350,009 (GRCm39)	splice site	probably benign
IGL02677:Dpy19l1	APN	9	24,396,368 (GRCm39)	missense	probably damaging	1.00
IGL02949:Dpy19l1	APN	9	24,332,476 (GRCm39)	missense	probably benign	0.44
IGL03067:Dpy19l1	APN	9	24,349,956 (GRCm39)	missense	probably benign	0.00
G1Funyon:Dpy19l1	UTSW	9	24,396,407 (GRCm39)	splice site	probably benign
R0066:Dpy19l1	UTSW	9	24,325,705 (GRCm39)	missense	possibly damaging	0.95
R0207:Dpy19l1	UTSW	9	24,365,187 (GRCm39)	missense	probably damaging	1.00
R0462:Dpy19l1	UTSW	9	24,325,645 (GRCm39)	missense	probably benign	0.01
R0544:Dpy19l1	UTSW	9	24,396,406 (GRCm39)	splice site	probably benign
R0749:Dpy19l1	UTSW	9	24,373,880 (GRCm39)	missense	probably benign	0.35
R0838:Dpy19l1	UTSW	9	24,343,727 (GRCm39)	missense	probably damaging	0.98
R1114:Dpy19l1	UTSW	9	24,336,072 (GRCm39)	missense	probably benign	0.30
R1546:Dpy19l1	UTSW	9	24,386,680 (GRCm39)	missense	probably damaging	0.98
R1767:Dpy19l1	UTSW	9	24,373,880 (GRCm39)	missense	probably benign	0.35
R1926:Dpy19l1	UTSW	9	24,385,120 (GRCm39)	missense	probably benign
R1933:Dpy19l1	UTSW	9	24,345,683 (GRCm39)	missense	probably damaging	0.99
R2046:Dpy19l1	UTSW	9	24,334,455 (GRCm39)	missense	probably damaging	0.98
R2101:Dpy19l1	UTSW	9	24,393,331 (GRCm39)	missense	probably damaging	0.99
R4083:Dpy19l1	UTSW	9	24,396,344 (GRCm39)	missense	possibly damaging	0.86
R4565:Dpy19l1	UTSW	9	24,343,684 (GRCm39)	missense	probably null	1.00
R4649:Dpy19l1	UTSW	9	24,393,350 (GRCm39)	missense	possibly damaging	0.94
R4652:Dpy19l1	UTSW	9	24,393,350 (GRCm39)	missense	possibly damaging	0.94
R4653:Dpy19l1	UTSW	9	24,393,350 (GRCm39)	missense	possibly damaging	0.94
R4669:Dpy19l1	UTSW	9	24,343,664 (GRCm39)	missense	possibly damaging	0.94
R4746:Dpy19l1	UTSW	9	24,361,966 (GRCm39)	missense	probably benign	0.29
R4769:Dpy19l1	UTSW	9	24,337,444 (GRCm39)	missense	probably damaging	0.99
R4785:Dpy19l1	UTSW	9	24,336,119 (GRCm39)	missense	probably damaging	1.00
R5177:Dpy19l1	UTSW	9	24,349,924 (GRCm39)	critical splice donor site	probably null
R5466:Dpy19l1	UTSW	9	24,325,684 (GRCm39)	missense	probably damaging	0.99
R5707:Dpy19l1	UTSW	9	24,325,563 (GRCm39)	makesense	probably null
R6265:Dpy19l1	UTSW	9	24,343,667 (GRCm39)	missense	possibly damaging	0.88
R6266:Dpy19l1	UTSW	9	24,350,442 (GRCm39)	missense	probably damaging	0.99
R6290:Dpy19l1	UTSW	9	24,373,896 (GRCm39)	missense	probably damaging	1.00
R6380:Dpy19l1	UTSW	9	24,393,341 (GRCm39)	nonsense	probably null
R6478:Dpy19l1	UTSW	9	24,361,992 (GRCm39)	missense	possibly damaging	0.88
R6581:Dpy19l1	UTSW	9	24,359,160 (GRCm39)	missense	possibly damaging	0.68
R6756:Dpy19l1	UTSW	9	24,385,080 (GRCm39)	missense	probably damaging	0.99
R6773:Dpy19l1	UTSW	9	24,352,068 (GRCm39)	missense	probably damaging	0.97
R6795:Dpy19l1	UTSW	9	24,414,158 (GRCm39)	missense	possibly damaging	0.53
R6796:Dpy19l1	UTSW	9	24,414,158 (GRCm39)	missense	possibly damaging	0.53
R7060:Dpy19l1	UTSW	9	24,334,419 (GRCm39)	missense	possibly damaging	0.88
R7862:Dpy19l1	UTSW	9	24,386,730 (GRCm39)	missense	probably damaging	1.00
R7921:Dpy19l1	UTSW	9	24,333,634 (GRCm39)	missense	possibly damaging	0.85
R8095:Dpy19l1	UTSW	9	24,396,160 (GRCm39)	splice site	probably null
R8192:Dpy19l1	UTSW	9	24,362,023 (GRCm39)	missense	possibly damaging	0.75
R8248:Dpy19l1	UTSW	9	24,414,191 (GRCm39)	missense	probably benign
R8296:Dpy19l1	UTSW	9	24,414,372 (GRCm39)	missense	probably benign	0.00
R8301:Dpy19l1	UTSW	9	24,396,407 (GRCm39)	splice site	probably benign
R8307:Dpy19l1	UTSW	9	24,414,297 (GRCm39)	missense	probably benign
R8328:Dpy19l1	UTSW	9	24,386,686 (GRCm39)	nonsense	probably null
R8975:Dpy19l1	UTSW	9	24,359,102 (GRCm39)	missense	probably damaging	0.98
R9283:Dpy19l1	UTSW	9	24,332,412 (GRCm39)	nonsense	probably null
R9661:Dpy19l1	UTSW	9	24,386,730 (GRCm39)	missense	probably damaging	1.00
X0025:Dpy19l1	UTSW	9	24,343,676 (GRCm39)	missense	probably benign

Posted On

2015-04-16