Mutagenetix > Incidental Mutations

Incidental Mutation 'R4469:Dnmt3c'

329307

Institutional Source

Beutler Lab

Gene Symbol

Dnmt3c

Ensembl Gene

ENSMUSG00000082079

Gene Name

DNA methyltransferase 3C

Synonyms

MMRRC Submission

041726-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4469 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153696652-153729907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153720360 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 555 (T555A)

Ref Sequence

ENSEMBL: ENSMUSP00000153622 (fasta)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119996
AA Change: T555A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.7398

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (52/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU or endonuclease-mediated mutation alleles exhibit reduced transposon and retrotransposons in male germ cells, male infertility, meiotic arrest, azoospermia and hypogonadism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	A	G	13: 58,382,425	L257P	probably damaging	Het
4833420G17Rik	A	G	13: 119,469,809	K196E	probably damaging	Het
Ackr1	T	C	1: 173,332,545		probably null	Het
Adgra1	C	T	7: 139,876,061	T535I	probably damaging	Het
Ankrd11	A	G	8: 122,896,587	Y310H	probably damaging	Het
Arhgef5	T	C	6: 43,275,099	I928T	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asb4	C	A	6: 5,423,409	F185L	probably benign	Het
Ces2g	A	T	8: 104,965,970	I301F	probably benign	Het
Chd1	T	C	17: 15,760,395	I1308T	probably damaging	Het
Cntnap4	A	T	8: 112,665,266	N121I	probably damaging	Het
Csf1	C	T	3: 107,750,681		probably null	Het
Dnah7a	T	A	1: 53,444,526	H3364L	probably benign	Het
Dst	A	G	1: 34,191,842	T3017A	probably benign	Het
Efcab7	A	G	4: 99,909,704	D482G	possibly damaging	Het
Fbxl5	A	G	5: 43,768,186	V154A	probably damaging	Het
Flt3	T	C	5: 147,375,644		silent	Het
G6pd2	A	T	5: 61,808,945	Y21F	probably benign	Het
Gm9376	C	T	14: 118,267,599	P148S	probably damaging	Het
Gpsm1	G	A	2: 26,319,831		probably benign	Het
Gtpbp2	A	G	17: 46,161,313	Y58C	probably damaging	Het
Hcrtr2	T	A	9: 76,230,556	T426S	probably benign	Het
Herc3	T	A	6: 58,876,809	Y613*	probably null	Het
Hsd17b1	A	T	11: 101,080,012	M265L	probably benign	Het
Ier3ip1	A	G	18: 76,940,598		probably benign	Het
Kif11	A	G	19: 37,416,492	M924V	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lancl2	T	A	6: 57,713,034	L75H	probably damaging	Het
Mfsd4b1	T	C	10: 40,012,095		probably benign	Het
Nlrc5	A	T	8: 94,520,839	I1588F	probably damaging	Het
Nostrin	C	G	2: 69,175,717	I248M	probably damaging	Het
Olfr104-ps	A	G	17: 37,362,637	I170M	possibly damaging	Het
Olfr125	T	C	17: 37,835,716	L239P	probably benign	Het
Rabggta	A	G	14: 55,716,487	V266A	probably benign	Het
Ror2	G	A	13: 53,131,980	T66M	possibly damaging	Het
Rps6-ps2	A	G	8: 88,806,691		noncoding transcript	Het
Skp1a	C	T	11: 52,245,078	T138I	probably benign	Het
Smad9	T	C	3: 54,782,761	V134A	probably damaging	Het
Snx29	T	A	16: 11,420,701		probably null	Het
Sos1	A	G	17: 80,453,811	I152T	probably damaging	Het
Ssbp2	G	A	13: 91,694,056	G302D	probably damaging	Het
Stom	T	C	2: 35,321,533	N159D	possibly damaging	Het
Trav16d-dv11	A	G	14: 53,047,578	K37R	probably benign	Het
Trim75	A	G	8: 64,983,717	V27A	probably damaging	Het
Ttn	T	C	2: 76,717,761	T32066A	probably damaging	Het
Txndc11	T	C	16: 11,075,223	H881R	probably benign	Het
Ubp1	C	T	9: 113,958,707	T222I	probably benign	Het
Unc5cl	C	G	17: 48,459,805	P69R	possibly damaging	Het
Zfp616	T	A	11: 74,071,124	C24S	probably damaging	Het

Other mutations in Dnmt3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0479:Dnmt3c	UTSW	2	153714941	splice site	probably null
R1167:Dnmt3c	UTSW	2	153711781	critical splice donor site	probably null
R6198:Dnmt3c	UTSW	2	153720009	missense	noncoding transcript
R6561:Dnmt3c	UTSW	2	153720030	missense	probably damaging	1.00
R7030:Dnmt3c	UTSW	2	153717425	missense	probably damaging	1.00
R7135:Dnmt3c	UTSW	2	153714952	splice site	probably null
R7296:Dnmt3c	UTSW	2	153715026	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TCCTTAGGCCTCAGGAAGATG -3'
(R):5'- GCCAACATGGACTATCTGGC -3'

Sequencing Primer
(F):5'- AGCGAACAATGCTCTGCTG -3'
(R):5'- ATGGACTATCTGGCCCAAGCAG -3'

Posted On

2015-07-21