Mutagenetix > Incidental Mutation

Incidental Mutation 'R4669:Dpy19l1'

352272

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l1

Ensembl Gene

ENSMUSG00000043067

Gene Name

dpy-19 like C-mannosyltransferase 1

Synonyms

1100001I19Rik

MMRRC Submission

041925-MU

Accession Numbers

Essential gene?

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

Stock #

R4669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24323074-24414436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24343664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 494 (V494I)

Ref Sequence

ENSEMBL: ENSMUSP00000129575 (fasta)

Gene Model

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

AlphaFold

A6X919

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115277
AA Change: V300I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110932
Gene: ENSMUSG00000043067
AA Change: V300I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142064
AA Change: V494I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: V494I

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

possibly damaging
Transcript: ENSMUST00000170356
AA Change: V494I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: V494I

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Acan	A	G	7: 78,750,890 (GRCm39)	E464G	probably benign	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,378,842 (GRCm39)	T2128A	probably damaging	Het
Ap2a1	A	T	7: 44,552,343 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,129,307 (GRCm39)	D217G	probably benign	Het
Arl2	C	A	19: 6,184,716 (GRCm39)	R179L	probably damaging	Het
Atg2a	T	A	19: 6,309,017 (GRCm39)		probably null	Het
B3gat1	T	A	9: 26,663,052 (GRCm39)	L6Q	probably benign	Het
Bcl10	A	G	3: 145,636,327 (GRCm39)	N75S	probably damaging	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Brms1l	A	G	12: 55,888,356 (GRCm39)	E48G	possibly damaging	Het
C2cd2l	A	T	9: 44,226,322 (GRCm39)	N414K	possibly damaging	Het
Capn2	C	T	1: 182,298,345 (GRCm39)	C640Y	probably benign	Het
Ccdc153	G	T	9: 44,157,021 (GRCm39)	R99M	probably damaging	Het
Ccdc51	A	G	9: 108,920,030 (GRCm39)	N142S	probably benign	Het
Cdipt	A	G	7: 126,577,578 (GRCm39)	H108R	possibly damaging	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Cts3	C	T	13: 61,714,637 (GRCm39)	E223K	probably benign	Het
Cyp2a22	T	C	7: 26,637,280 (GRCm39)	D168G	possibly damaging	Het
Cyp2c67	T	A	19: 39,632,098 (GRCm39)	H90L	probably benign	Het
Ddx4	T	C	13: 112,758,778 (GRCm39)	Y261C	probably damaging	Het
Dnah17	T	C	11: 117,965,119 (GRCm39)	T2308A	probably benign	Het
Dnah6	T	C	6: 73,014,671 (GRCm39)	T3587A	probably damaging	Het
Dse	T	G	10: 34,029,008 (GRCm39)	Y694S	probably damaging	Het
Emilin3	T	C	2: 160,752,717 (GRCm39)	I78V	probably benign	Het
Esam	T	A	9: 37,447,952 (GRCm39)	Y195*	probably null	Het
Extl3	T	A	14: 65,313,745 (GRCm39)	N479I	possibly damaging	Het
Fat2	A	G	11: 55,202,441 (GRCm39)	V211A	probably benign	Het
Ganc	G	T	2: 120,261,548 (GRCm39)	V343F	probably benign	Het
Ggt5	T	C	10: 75,438,865 (GRCm39)	L121P	probably damaging	Het
Gnmt	A	T	17: 47,037,225 (GRCm39)	C186*	probably null	Het
Gpr75	A	T	11: 30,842,072 (GRCm39)	I326F	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T23	G	T	17: 36,342,690 (GRCm39)	D149E	probably damaging	Het
Hmcn2	G	T	2: 31,325,804 (GRCm39)	R4277L	probably benign	Het
Irf9	C	A	14: 55,843,223 (GRCm39)	H94N	probably benign	Het
Jhy	T	C	9: 40,872,449 (GRCm39)	N20S	probably benign	Het
Klf17	C	A	4: 117,617,568 (GRCm39)	C263F	probably damaging	Het
Lama5	T	C	2: 179,822,430 (GRCm39)	Y2881C	probably damaging	Het
Lig1	T	G	7: 13,044,953 (GRCm39)	I882S	probably damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Mael	T	C	1: 166,063,077 (GRCm39)	E125G	probably damaging	Het
Mib2	C	T	4: 155,741,872 (GRCm39)	D275N	possibly damaging	Het
Mical3	C	T	6: 120,934,664 (GRCm39)	R1805Q	probably damaging	Het
Mix23	A	G	16: 35,903,089 (GRCm39)	D27G	probably damaging	Het
Mllt10	A	G	2: 18,208,444 (GRCm39)	D158G	probably damaging	Het
Mocs1	A	G	17: 49,761,613 (GRCm39)	D569G	possibly damaging	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Mtmr2	T	C	9: 13,707,260 (GRCm39)	S199P	probably damaging	Het
Ndufaf5	T	C	2: 140,029,675 (GRCm39)	V164A	probably benign	Het
Nek9	T	C	12: 85,360,978 (GRCm39)	E518G	probably benign	Het
Nfatc2	T	C	2: 168,413,410 (GRCm39)	I72V	probably benign	Het
Nlrp9c	C	T	7: 26,074,793 (GRCm39)	A746T	possibly damaging	Het
Nup42	A	G	5: 24,387,415 (GRCm39)	R402G	probably benign	Het
Ogdh	G	T	11: 6,290,600 (GRCm39)	C406F	probably benign	Het
Or3a1d	A	G	11: 74,237,789 (GRCm39)	V207A	probably benign	Het
Or4c120	G	A	2: 89,001,245 (GRCm39)	H104Y	probably damaging	Het
Or8b35	A	T	9: 37,904,381 (GRCm39)	I198F	possibly damaging	Het
Or8g17	T	A	9: 38,930,675 (GRCm39)	Y54F	probably benign	Het
Or8j3	A	T	2: 86,028,277 (GRCm39)	M273K	possibly damaging	Het
Otof	A	G	5: 30,578,318 (GRCm39)		probably null	Het
Pcdhb17	T	C	18: 37,619,259 (GRCm39)	S350P	probably damaging	Het
Phf3	T	C	1: 30,869,027 (GRCm39)	T674A	probably damaging	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Ppfia3	T	C	7: 45,001,517 (GRCm39)	E465G	probably damaging	Het
Prkg1	T	A	19: 31,641,639 (GRCm39)	I15F	probably damaging	Het
Rab5c	A	G	11: 100,610,843 (GRCm39)	F22L	probably damaging	Het
Raf1	A	G	6: 115,609,880 (GRCm39)	S220P	probably damaging	Het
Rgl1	T	G	1: 152,397,122 (GRCm39)	R716S	probably damaging	Het
Rhbg	C	A	3: 88,153,273 (GRCm39)	W205L	probably damaging	Het
Rimbp3	A	G	16: 17,027,053 (GRCm39)	E159G	possibly damaging	Het
Ryr1	T	C	7: 28,759,256 (GRCm39)	D3338G	probably null	Het
Sash1	T	C	10: 8,606,149 (GRCm39)	N747S	probably benign	Het
Serpina3g	A	T	12: 104,205,479 (GRCm39)	I73F	probably damaging	Het
Sfxn2	C	A	19: 46,574,213 (GRCm39)	N134K	probably damaging	Het
Slc12a6	A	G	2: 112,184,640 (GRCm39)	H853R	probably damaging	Het
Slc16a12	C	T	19: 34,649,965 (GRCm39)	D357N	probably damaging	Het
Slc39a8	T	C	3: 135,561,772 (GRCm39)	Y164H	probably benign	Het
Snx9	A	G	17: 5,977,499 (GRCm39)	K518E	probably damaging	Het
Spdye4c	G	A	2: 128,434,273 (GRCm39)	V5I	possibly damaging	Het
Spef2	A	G	15: 9,676,459 (GRCm39)	V704A	probably benign	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Strap	C	A	6: 137,712,384 (GRCm39)	S11*	probably null	Het
Synpo2	A	G	3: 122,906,712 (GRCm39)	L868P	probably damaging	Het
Tenm2	A	G	11: 35,901,314 (GRCm39)	V2474A	probably damaging	Het
Tm9sf4	T	A	2: 153,029,228 (GRCm39)	V92D	probably damaging	Het
Tmf1	A	T	6: 97,147,388 (GRCm39)	M526K	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc39d	A	G	17: 80,525,068 (GRCm39)	I576V	probably benign	Het
Upk1a	T	G	7: 30,304,554 (GRCm39)	T193P	probably benign	Het
Vmn2r67	A	T	7: 84,799,732 (GRCm39)	V502E	probably benign	Het
Wdr17	A	G	8: 55,143,083 (GRCm39)	V189A	possibly damaging	Het
Wrap73	A	T	4: 154,236,153 (GRCm39)	S161C	probably benign	Het
Zfp568	A	G	7: 29,722,702 (GRCm39)	H549R	probably damaging	Het
Zfp605	T	A	5: 110,275,227 (GRCm39)	M115K	possibly damaging	Het
Zp1	T	A	19: 10,896,269 (GRCm39)	H152L	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCGCATCTAATTTATGCTAGC -3'
(R):5'- TGATGGGAATCAGTGCCTGG -3'

Sequencing Primer
(F):5'- GCATCTAATTTATGCTAGCAGAAAGC -3'
(R):5'- CCTCTCGGTTGGTGAATGC -3'

Posted On

2015-10-08