Incidental Mutation 'IGL02672:Rere'
ID302957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rere
Ensembl Gene ENSMUSG00000039852
Gene Namearginine glutamic acid dipeptide (RE) repeats
Synonyms1110033A15Rik, eyes3, Atr2, eye, atrophin-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02672
Quality Score
Status
Chromosome4
Chromosomal Location150281646-150621966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 150510026 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 364 (N364K)
Ref Sequence ENSEMBL: ENSMUSP00000101307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105680] [ENSMUST00000105682]
Predicted Effect unknown
Transcript: ENSMUST00000105680
AA Change: N96K
SMART Domains Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: N96K

DomainStartEndE-ValueType
ELM2 18 70 1.67e-13 SMART
SANT 124 173 1.8e-6 SMART
low complexity region 176 193 N/A INTRINSIC
ZnF_GATA 233 284 1.94e-15 SMART
Pfam:Atrophin-1 300 1290 N/A PFAM
Predicted Effect unknown
Transcript: ENSMUST00000105682
AA Change: N364K
SMART Domains Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: N364K

DomainStartEndE-ValueType
low complexity region 3 31 N/A INTRINSIC
low complexity region 52 65 N/A INTRINSIC
low complexity region 73 85 N/A INTRINSIC
BAH 103 283 3.52e-13 SMART
ELM2 286 338 1.67e-13 SMART
SANT 392 441 1.8e-6 SMART
low complexity region 444 461 N/A INTRINSIC
ZnF_GATA 501 552 1.94e-15 SMART
Pfam:Atrophin-1 568 1557 N/A PFAM
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 encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,174,561 probably benign Het
Alpi A G 1: 87,101,272 L60P probably damaging Het
Arpc1a A C 5: 145,104,887 I327L probably damaging Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Dcaf7 T C 11: 106,054,858 probably benign Het
Dnah9 T G 11: 65,927,601 I3304L probably benign Het
Dpp10 T A 1: 123,376,647 H508L probably benign Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Enpp7 T C 11: 118,992,340 probably null Het
Fbxw9 C A 8: 85,066,053 probably null Het
Foxred2 A G 15: 77,945,577 probably null Het
Gas2l2 C T 11: 83,425,131 R254H probably damaging Het
Gatad2b C T 3: 90,341,891 L79F possibly damaging Het
Igf1r A T 7: 68,190,033 D696V probably benign Het
Kcnk5 A G 14: 20,146,512 I96T probably damaging Het
Lrrc8c C T 5: 105,607,358 T333M possibly damaging Het
Mcm10 T C 2: 5,001,281 T417A probably benign Het
Mesp2 T C 7: 79,811,397 S157P probably benign Het
Naca A G 10: 128,040,283 probably benign Het
Olfr1102 A T 2: 87,002,073 M35L probably benign Het
Osgepl1 A G 1: 53,320,111 T260A probably benign Het
Otop1 T C 5: 38,277,826 probably null Het
Pdk1 T C 2: 71,895,752 S335P probably damaging Het
Phkb A G 8: 85,942,358 N338S probably benign Het
Pogz G A 3: 94,856,099 V61I probably benign Het
Ppp4r1 A G 17: 65,840,947 Y928C probably damaging Het
Rab17 T C 1: 90,959,218 E160G probably damaging Het
Rasgrp3 T A 17: 75,496,417 F70Y probably benign Het
Ryr1 A T 7: 29,004,519 probably benign Het
Sae1 A G 7: 16,370,348 V112A probably damaging Het
Serpinb6d C T 13: 33,671,389 H349Y probably benign Het
Slc12a1 T C 2: 125,170,676 V286A probably damaging Het
Smad3 A T 9: 63,667,727 probably null Het
Sox8 T A 17: 25,568,989 D162V probably damaging Het
Sptbn1 A G 11: 30,137,239 F1067L probably damaging Het
Tmprss3 T C 17: 31,191,007 Y211C probably damaging Het
Top2b T C 14: 16,409,166 probably benign Het
Tpp1 A T 7: 105,746,961 H510Q probably benign Het
Ugcg T A 4: 59,218,587 probably benign Het
Vmn2r96 T A 17: 18,598,114 I651N probably benign Het
Wdr25 A T 12: 108,898,081 K51* probably null Het
Other mutations in Rere
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Rere APN 4 150619463 missense probably damaging 1.00
IGL01465:Rere APN 4 150509994 missense unknown
IGL01523:Rere APN 4 150615555 missense possibly damaging 0.93
IGL01688:Rere APN 4 150618436 missense probably damaging 1.00
IGL02057:Rere APN 4 150614832 unclassified probably benign
IGL02621:Rere APN 4 150613812 unclassified probably benign
R0116:Rere UTSW 4 150616976 missense probably benign 0.18
R0119:Rere UTSW 4 150615322 unclassified probably benign
R0344:Rere UTSW 4 150610981 unclassified probably benign
R0504:Rere UTSW 4 150615322 unclassified probably benign
R0630:Rere UTSW 4 150619088 missense probably damaging 1.00
R0961:Rere UTSW 4 150615372 unclassified probably benign
R1164:Rere UTSW 4 150534884 missense unknown
R1424:Rere UTSW 4 150617038 missense probably damaging 1.00
R1542:Rere UTSW 4 150615942 missense probably damaging 1.00
R1652:Rere UTSW 4 150612065 unclassified probably benign
R1953:Rere UTSW 4 150616837 missense probably damaging 1.00
R1959:Rere UTSW 4 150468790 missense probably benign 0.23
R1966:Rere UTSW 4 150616873 missense probably damaging 1.00
R1975:Rere UTSW 4 150615733 missense probably damaging 0.99
R2070:Rere UTSW 4 150614590 unclassified probably benign
R2115:Rere UTSW 4 150612561 unclassified probably benign
R2144:Rere UTSW 4 150616931 missense probably damaging 0.99
R2270:Rere UTSW 4 150477380 missense unknown
R2969:Rere UTSW 4 150570216 missense unknown
R3699:Rere UTSW 4 150477362 critical splice acceptor site probably null
R3723:Rere UTSW 4 150468795 missense probably damaging 1.00
R3826:Rere UTSW 4 150470328 missense probably benign 0.42
R4234:Rere UTSW 4 150617405 missense probably damaging 1.00
R4512:Rere UTSW 4 150477452 missense unknown
R4798:Rere UTSW 4 150615167 unclassified probably benign
R4883:Rere UTSW 4 150616053 missense probably damaging 0.98
R4914:Rere UTSW 4 150619144 missense probably damaging 1.00
R4916:Rere UTSW 4 150619144 missense probably damaging 1.00
R4917:Rere UTSW 4 150619144 missense probably damaging 1.00
R4918:Rere UTSW 4 150619144 missense probably damaging 1.00
R4966:Rere UTSW 4 150613816 unclassified probably benign
R5172:Rere UTSW 4 150570269 missense unknown
R5643:Rere UTSW 4 150617243 missense probably damaging 1.00
R6058:Rere UTSW 4 150468798 missense probably damaging 1.00
R7112:Rere UTSW 4 150406604 missense probably benign
R7173:Rere UTSW 4 150468738 missense probably damaging 1.00
R7190:Rere UTSW 4 150610953 missense unknown
R8070:Rere UTSW 4 150617375 missense probably damaging 1.00
Z1176:Rere UTSW 4 150468783 missense probably damaging 1.00
Z1177:Rere UTSW 4 150615811 missense
Posted On2015-04-16