Incidental Mutation 'IGL02895:Rtl3'
ID363375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtl3
Ensembl Gene ENSMUSG00000047686
Gene Nameretrotransposon Gag like 3
SynonymsMart3, ZHC5, Zcchc5, Mar3, D430021I08Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02895
Quality Score
Status
ChromosomeX
Chromosomal Location106837082-106840644 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106839544 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 37 (I37M)
Ref Sequence ENSEMBL: ENSMUSP00000060157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062010]
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

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,232,107 probably benign Het
Ahctf1 C T 1: 179,793,811 E130K probably damaging Het
Atf7ip C A 6: 136,560,688 S306R probably damaging Het
Cpd A G 11: 76,785,203 V1208A probably benign Het
Ctsl C T 13: 64,366,512 A195T probably damaging Het
Dennd2c T C 3: 103,137,203 Y367H possibly damaging Het
Endod1 T A 9: 14,356,870 T440S probably benign Het
Gm12695 T C 4: 96,723,949 R526G probably damaging Het
Ighv1-39 T C 12: 114,914,682 T90A probably damaging Het
Kdm2a G A 19: 4,362,902 R19C probably damaging Het
Klra1 C T 6: 130,375,240 E180K possibly damaging Het
Odam A G 5: 87,885,864 Q21R probably benign Het
Olfr1205 A G 2: 88,831,642 Y175C probably damaging Het
Olfr145 G A 9: 37,897,982 V193I probably benign Het
Plk1 A G 7: 122,169,166 E504G possibly damaging Het
Srebf2 A G 15: 82,147,467 E22G possibly damaging Het
Tmem74b A G 2: 151,706,391 S13G probably benign Het
Utp14b T C 1: 78,664,607 V74A possibly damaging Het
Znrf3 T C 11: 5,289,085 M93V probably damaging Het
Other mutations in Rtl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Rtl3 APN X 106838937 missense probably benign 0.03
Posted On2015-12-18