Mutagenetix > Incidental Mutation

Incidental Mutation 'R8301:Dpy19l1'

656515

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l1

Ensembl Gene

ENSMUSG00000043067

Gene Name

dpy-19 like C-mannosyltransferase 1

Synonyms

1100001I19Rik

MMRRC Submission

067789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24323074-24414436 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 24396407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000142064

SMART Domains

Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067

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 benign
Transcript: ENSMUST00000170356

SMART Domains

Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,120,364 (GRCm39)	I374F	probably benign	Het
Ak9	G	A	10: 41,300,712 (GRCm39)	V1108I		Het
Aldh16a1	C	T	7: 44,791,406 (GRCm39)	A790T	possibly damaging	Het
Anks1	A	T	17: 28,278,554 (GRCm39)		probably benign	Het
Antxr2	T	G	5: 98,125,538 (GRCm39)	T240P	probably benign	Het
Arfgef1	A	T	1: 10,250,058 (GRCm39)	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,528,866 (GRCm39)	T1591A	probably benign	Het
Aurka	A	G	2: 172,198,850 (GRCm39)	S374P	probably damaging	Het
Bccip	T	C	7: 133,320,933 (GRCm39)	S236P	probably benign	Het
Cacna1s	T	A	1: 136,001,179 (GRCm39)		probably benign	Het
Calm1	A	G	12: 100,171,944 (GRCm39)	E132G	probably benign	Het
Casz1	A	G	4: 149,030,500 (GRCm39)	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659 (GRCm39)	D413G	probably damaging	Het
Cfap57	A	G	4: 118,450,271 (GRCm39)	I617T	possibly damaging	Het
Creb5	A	G	6: 53,658,018 (GRCm39)	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,299,354 (GRCm39)	S337A	unknown	Het
Ddx60	A	G	8: 62,453,631 (GRCm39)	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,873,577 (GRCm39)	S727T	probably benign	Het
Ebf2	A	G	14: 67,476,431 (GRCm39)	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,030,106 (GRCm39)	M136L	probably benign	Het
Enpp2	A	G	15: 54,714,803 (GRCm39)	F598S	probably benign	Het
Extl3	A	C	14: 65,313,733 (GRCm39)	L483R	probably damaging	Het
Gcat	T	C	15: 78,920,089 (GRCm39)	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,381,442 (GRCm39)	D344G	probably damaging	Het
Ighm	C	T	12: 113,385,165 (GRCm39)	G265D		Het
Igsf9b	T	G	9: 27,246,035 (GRCm39)		probably benign	Het
Ints6	A	G	14: 62,939,902 (GRCm39)	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120 (GRCm39)	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,818,659 (GRCm39)		probably null	Het
Kalrn	G	T	16: 34,177,470 (GRCm39)	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,451,770 (GRCm39)	N46Y	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa50	A	G	16: 43,977,494 (GRCm39)	N74S	probably benign	Het
Neb	T	C	2: 52,178,847 (GRCm39)	N1303S	probably benign	Het
Nfs1	A	T	2: 155,976,413 (GRCm39)	C160*	probably null	Het
Or11g7	T	A	14: 50,691,021 (GRCm39)	S171T	probably benign	Het
Or52s1b	T	G	7: 102,822,280 (GRCm39)	K188T	probably damaging	Het
Or5p52	A	G	7: 107,502,833 (GRCm39)	K303R	probably benign	Het
Or6c76	T	C	10: 129,612,709 (GRCm39)	S309P	probably benign	Het
Orm2	T	C	4: 63,281,263 (GRCm39)	F67S	possibly damaging	Het
Pex5	A	G	6: 124,382,142 (GRCm39)	S180P	probably benign	Het
Phf14	G	C	6: 11,992,061 (GRCm39)	G746R	probably damaging	Het
Pkm	T	A	9: 59,575,914 (GRCm39)	V110E	probably damaging	Het
Plekha6	T	G	1: 133,192,425 (GRCm39)	N78K	probably damaging	Het
Plxna2	G	A	1: 194,472,483 (GRCm39)	V1076I	probably benign	Het
Polq	C	A	16: 36,882,181 (GRCm39)	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,994,895 (GRCm39)	T256A	probably benign	Het
Prkch	C	T	12: 73,749,538 (GRCm39)	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,383,168 (GRCm39)		probably benign	Het
Prl7b1	A	C	13: 27,786,755 (GRCm39)	V158G	possibly damaging	Het
Prss22	T	C	17: 24,212,955 (GRCm39)	S261G	probably damaging	Het
Psd	T	C	19: 46,309,541 (GRCm39)		probably benign	Het
Psg18	A	T	7: 18,087,302 (GRCm39)	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,729,993 (GRCm39)	R218S	probably damaging	Het
Rnf213	T	A	11: 119,325,568 (GRCm39)	S1491T		Het
Rsf1	T	C	7: 97,311,132 (GRCm39)	S621P		Het
Runx1	C	A	16: 92,402,544 (GRCm39)	*466L	probably null	Het
Samd4	A	G	14: 47,254,135 (GRCm39)	I200V	probably benign	Het
Sdsl	C	T	5: 120,597,584 (GRCm39)	C241Y	probably benign	Het
Selenon	T	C	4: 134,278,725 (GRCm39)		probably benign	Het
Setx	C	T	2: 29,035,702 (GRCm39)	P729L	possibly damaging	Het
Sf1	C	T	19: 6,418,396 (GRCm39)	Q55*	probably null	Het
Slc12a5	A	T	2: 164,835,611 (GRCm39)	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,282,286 (GRCm39)	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,220,996 (GRCm39)	A324S	probably benign	Het
Tmem217	A	G	17: 29,745,466 (GRCm39)	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,779,115 (GRCm39)	I61N	probably benign	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trhde	T	A	10: 114,322,911 (GRCm39)	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568 (GRCm39)	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,507,510 (GRCm39)	C601S	probably benign	Het
Zfp873	C	A	10: 81,896,713 (GRCm39)	H481Q	probably damaging	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
IGL01713: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
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

Predicted Primers

PCR Primer
(F):5'- GGGAGAACTGTCTACTCCTTTTC -3'
(R):5'- TGAATGGTACCCAATGGCAC -3'

Sequencing Primer
(F):5'- ATGTCTTGTTGAAACTTTTCATGCC -3'
(R):5'- GGCACATTCAGTATGATCT -3'

Posted On

2020-12-09