Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Dpy19l3'

24039

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l3

Ensembl Gene

ENSMUSG00000043671

Gene Name

dpy-19 like C-mannosyltransferase 3

Synonyms

9330164H19Rik

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35384925-35453879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35416071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 310 (I310F)

Ref Sequence

ENSEMBL: ENSMUSP00000054747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051377] [ENSMUST00000144416]

AlphaFold

Q71B07

Predicted Effect

probably damaging
Transcript: ENSMUST00000051377
AA Change: I310F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: I310F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127782

Predicted Effect

probably benign
Transcript: ENSMUST00000144416

SMART Domains

Protein: ENSMUSP00000122489
Gene: ENSMUSG00000043671

Domain	Start	End	E-Value	Type
Pfam:Dpy19	1	114	2.5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205751

Meta Mutation Damage Score

0.5122

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,630,440 (GRCm39)		probably null	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atl2	A	G	17: 80,161,260 (GRCm39)		probably benign	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,175,900 (GRCm39)		probably benign	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
BC028528	A	T	3: 95,794,646 (GRCm39)		probably benign	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,165,518 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gli2	A	G	1: 118,818,013 (GRCm39)		probably benign	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,755,646 (GRCm39)		probably benign	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Ipo11	A	G	13: 107,046,702 (GRCm39)		probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mmrn1	T	A	6: 60,952,799 (GRCm39)		probably benign	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
N4bp2	T	C	5: 65,960,916 (GRCm39)		probably benign	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Rnf157	A	G	11: 116,245,636 (GRCm39)		probably benign	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Skint6	A	T	4: 112,848,433 (GRCm39)		probably benign	Het
Slfn10-ps	T	C	11: 82,926,128 (GRCm39)		noncoding transcript	Het
Sspo	T	A	6: 48,471,128 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,141,634 (GRCm39)		probably benign	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tenm4	T	G	7: 96,378,547 (GRCm39)		probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ubac2	A	G	14: 122,246,329 (GRCm39)		probably benign	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ugt1a6a	T	C	1: 88,066,992 (GRCm39)	V266A	possibly damaging	Het
Ugt1a6b	T	A	1: 88,035,189 (GRCm39)	C176S	probably damaging	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,528,800 (GRCm39)		probably null	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Wdr43	T	G	17: 71,938,992 (GRCm39)		probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	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
R0385:Dpy19l3	UTSW	7	35,452,130 (GRCm39)	missense	probably damaging	0.97
R0705:Dpy19l3	UTSW	7	35,394,741 (GRCm39)	missense	probably damaging	0.96
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'- GGAAAAGTTACTGTCACCCTGCTGG -3'
(R):5'- GGCGTCCTTTTAGAGACGACGATTC -3'

Sequencing Primer
(F):5'- aacagcgggtaactacagg -3'
(R):5'- TTAGAGACGACGATTCTTGGAAC -3'

Posted On

2013-04-16