Incidental Mutation 'IGL00335:Rtl3'
ID 3101
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 # IGL00335
Quality Score
Status
Chromosome X
Chromosomal Location 105880688-105884145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105882543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 240 (T240A)
Ref Sequence ENSEMBL: ENSMUSP00000060157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062010]
AlphaFold Q6P1Y1
Predicted Effect probably benign
Transcript: ENSMUST00000062010
AA Change: T240A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000060157
Gene: ENSMUSG00000047686
AA Change: T240A

DomainStartEndE-ValueType
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700048O20Rik C A 9: 121,769,833 (GRCm39) noncoding transcript Het
4930579F01Rik C A 3: 137,891,959 (GRCm39) probably benign Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Bace1 T C 9: 45,750,588 (GRCm39) probably null Het
Chrne C T 11: 70,506,588 (GRCm39) V311I probably benign Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cyp2c70 C T 19: 40,156,020 (GRCm39) V177M probably damaging Het
Dusp10 A G 1: 183,801,328 (GRCm39) E365G probably benign Het
Fcgbp C A 7: 27,785,560 (GRCm39) N332K possibly damaging Het
Irx4 T C 13: 73,416,810 (GRCm39) V402A probably benign Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lama3 A G 18: 12,582,645 (GRCm39) probably benign Het
Lhfpl7 A G 5: 113,383,869 (GRCm39) R96G probably benign Het
Lrrc8b T C 5: 105,628,365 (GRCm39) I237T probably damaging Het
Mepe G T 5: 104,485,843 (GRCm39) G328C probably damaging Het
Numb A G 12: 83,854,906 (GRCm39) I129T probably damaging Het
Or5h25 T C 16: 58,930,961 (GRCm39) D4G probably benign Het
Or6c209 T C 10: 129,483,306 (GRCm39) I103T probably benign Het
Osmr T C 15: 6,866,504 (GRCm39) D390G probably benign Het
Pglyrp3 G A 3: 91,929,986 (GRCm39) V51I probably damaging Het
Phactr2 T C 10: 13,121,279 (GRCm39) T470A probably damaging Het
Psmg1 G A 16: 95,781,268 (GRCm39) T259I possibly damaging Het
Ryr1 C T 7: 28,824,385 (GRCm39) probably null Het
Slc10a6 A G 5: 103,756,991 (GRCm39) S258P probably benign Het
Slc1a6 T C 10: 78,637,647 (GRCm39) L391P probably damaging Het
Slc6a7 C T 18: 61,134,681 (GRCm39) V465M possibly damaging Het
Sost T C 11: 101,857,705 (GRCm39) D32G probably damaging Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Tifab A G 13: 56,324,282 (GRCm39) S54P probably damaging Het
Tnrc6a T A 7: 122,770,003 (GRCm39) S598T probably benign Het
Vmn2r1 T A 3: 64,012,809 (GRCm39) I890N probably damaging Het
Wapl A G 14: 34,414,593 (GRCm39) D485G probably benign Het
Wee2 A T 6: 40,438,995 (GRCm39) I373F probably damaging Het
Xkr6 A G 14: 64,056,664 (GRCm39) T192A probably damaging Het
Zfp638 A G 6: 83,956,700 (GRCm39) D1769G probably damaging Het
Other mutations in Rtl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02895:Rtl3 APN X 105,883,150 (GRCm39) missense possibly damaging 0.52
Posted On 2012-04-20