Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Dpy19l3'

618130

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l3

Ensembl Gene

ENSMUSG00000043671

Gene Name

dpy-19-like 3 (C. elegans)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35685165-35754454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35749856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 41 (F41L)

Ref Sequence

ENSEMBL: ENSMUSP00000054747 (fasta)

Gene Model

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

AlphaFold

Q71B07

Predicted Effect

probably benign
Transcript: ENSMUST00000051377
AA Change: F41L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: F41L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	probably damaging	Het

Other mutations in Dpy19l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Dpy19l3	APN	7	35692767	splice site	probably benign
IGL01351:Dpy19l3	APN	7	35727415	splice site	probably benign
IGL01622:Dpy19l3	APN	7	35722744	missense	probably damaging	1.00
IGL01623:Dpy19l3	APN	7	35722744	missense	probably damaging	1.00
IGL01645:Dpy19l3	APN	7	35695338	missense	probably benign	0.00
IGL02725:Dpy19l3	APN	7	35711918	missense	probably benign	0.01
IGL02817:Dpy19l3	APN	7	35692808	missense	probably damaging	1.00
IGL03130:Dpy19l3	APN	7	35752672	missense	probably benign	0.00
IGL03178:Dpy19l3	APN	7	35729729	nonsense	probably null
IGL03374:Dpy19l3	APN	7	35712208	missense	possibly damaging	0.82
R0143:Dpy19l3	UTSW	7	35714215	missense	probably benign	0.19
R0164:Dpy19l3	UTSW	7	35716646	missense	probably damaging	0.98
R0164:Dpy19l3	UTSW	7	35716646	missense	probably damaging	0.98
R0385:Dpy19l3	UTSW	7	35752705	missense	probably damaging	0.97
R0705:Dpy19l3	UTSW	7	35695316	missense	probably damaging	0.96
R1489:Dpy19l3	UTSW	7	35725410	nonsense	probably null
R1640:Dpy19l3	UTSW	7	35749778	missense	probably benign	0.41
R1782:Dpy19l3	UTSW	7	35708155	missense	possibly damaging	0.94
R1843:Dpy19l3	UTSW	7	35729760	missense	probably damaging	1.00
R2096:Dpy19l3	UTSW	7	35727288	critical splice donor site	probably null
R3814:Dpy19l3	UTSW	7	35727292	nonsense	probably null
R4438:Dpy19l3	UTSW	7	35692859	missense	probably damaging	1.00
R4537:Dpy19l3	UTSW	7	35711901	missense	probably benign	0.01
R4735:Dpy19l3	UTSW	7	35722721	missense	probably benign	0.00
R4737:Dpy19l3	UTSW	7	35703501	missense	probably damaging	1.00
R4864:Dpy19l3	UTSW	7	35712182	nonsense	probably null
R4915:Dpy19l3	UTSW	7	35752742	utr 5 prime	probably benign
R4920:Dpy19l3	UTSW	7	35708042	intron	probably benign
R5300:Dpy19l3	UTSW	7	35727310	missense	probably damaging	1.00
R5527:Dpy19l3	UTSW	7	35714130	missense	possibly damaging	0.95
R5801:Dpy19l3	UTSW	7	35725298	missense	probably benign	0.10
R6815:Dpy19l3	UTSW	7	35749847	missense	possibly damaging	0.67
R7150:Dpy19l3	UTSW	7	35708630	missense	probably benign
R7198:Dpy19l3	UTSW	7	35749765	missense	possibly damaging	0.73
R7378:Dpy19l3	UTSW	7	35752642	missense	probably benign	0.10
R7625:Dpy19l3	UTSW	7	35752681	missense	probably benign
R7641:Dpy19l3	UTSW	7	35695309	missense	probably damaging	1.00
R7674:Dpy19l3	UTSW	7	35695309	missense	probably damaging	1.00
R8073:Dpy19l3	UTSW	7	35729748	missense	probably damaging	1.00
R8183:Dpy19l3	UTSW	7	35695389	missense	probably damaging	0.96
R8206:Dpy19l3	UTSW	7	35729730	missense	probably damaging	1.00
R9299:Dpy19l3	UTSW	7	35725327	nonsense	probably null
R9765:Dpy19l3	UTSW	7	35708631	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGCTACCGGGGAAACAAATG -3'
(R):5'- GCGCATGTCTTCTGATTTATGC -3'

Sequencing Primer
(F):5'- CTACCGGGGAAACAAATGAGTTGATC -3'
(R):5'- TGTGTAGGTTGTACAAATGAGCACC -3'

Posted On

2020-01-23