Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02895:Rtl3'

363375

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtl3

Ensembl Gene

ENSMUSG00000047686

Gene Name

retrotransposon Gag like 3

Synonyms

Zcchc5, Mar3, Mart3, D430021I08Rik, ZHC5

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02895

Quality Score

Status

Chromosome

Chromosomal Location

105880688-105884145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105883150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 37 (I37M)

Ref Sequence

ENSEMBL: ENSMUSP00000060157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062010]

AlphaFold

Q6P1Y1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062010
AA Change: I37M

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060157
Gene: ENSMUSG00000047686
AA Change: I37M

Domain	Start	End	E-Value	Type
coiled coil region	2	44	N/A	INTRINSIC
low complexity region	55	73	N/A	INTRINSIC
low complexity region	76	89	N/A	INTRINSIC
low complexity region	105	117	N/A	INTRINSIC
low complexity region	251	265	N/A	INTRINSIC
Pfam:Retrotrans_gag	351	445	8.2e-9	PFAM
low complexity region	474	492	N/A	INTRINSIC
ZnF_C2HC	522	538	6.88e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of gag-related retrotransposon genes. These genes appear to have lost the ability to retrotranspose; however, their open reading frames have remained intact, which may indicate that these genes have acquired new functions in the cell. [provided by RefSeq, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	T	1: 179,621,376 (GRCm39)	E130K	probably damaging	Het
Atf7ip	C	A	6: 136,537,686 (GRCm39)	S306R	probably damaging	Het
Cpd	A	G	11: 76,676,029 (GRCm39)	V1208A	probably benign	Het
Cplane1	A	G	15: 8,261,591 (GRCm39)		probably benign	Het
Ctsl	C	T	13: 64,514,326 (GRCm39)	A195T	probably damaging	Het
Dennd2c	T	C	3: 103,044,519 (GRCm39)	Y367H	possibly damaging	Het
Endod1	T	A	9: 14,268,166 (GRCm39)	T440S	probably benign	Het
Gm12695	T	C	4: 96,612,186 (GRCm39)	R526G	probably damaging	Het
Ighv1-39	T	C	12: 114,878,302 (GRCm39)	T90A	probably damaging	Het
Kdm2a	G	A	19: 4,412,930 (GRCm39)	R19C	probably damaging	Het
Klra1	C	T	6: 130,352,203 (GRCm39)	E180K	possibly damaging	Het
Odam	A	G	5: 88,033,723 (GRCm39)	Q21R	probably benign	Het
Or4c11c	A	G	2: 88,661,986 (GRCm39)	Y175C	probably damaging	Het
Or8b8	G	A	9: 37,809,278 (GRCm39)	V193I	probably benign	Het
Plk1	A	G	7: 121,768,389 (GRCm39)	E504G	possibly damaging	Het
Srebf2	A	G	15: 82,031,668 (GRCm39)	E22G	possibly damaging	Het
Tmem74b	A	G	2: 151,548,311 (GRCm39)	S13G	probably benign	Het
Utp14b	T	C	1: 78,642,324 (GRCm39)	V74A	possibly damaging	Het
Znrf3	T	C	11: 5,239,085 (GRCm39)	M93V	probably damaging	Het

Other mutations in Rtl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Rtl3	APN	X	105,882,543 (GRCm39)	missense	probably benign	0.03

Posted On

2015-12-18