Incidental Mutation 'IGL02672:Rere'
ID 302957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rere
Ensembl Gene ENSMUSG00000039852
Gene Name arginine glutamic acid dipeptide (RE) repeats
Synonyms eye, eyes3, Atr2, atrophin-2, 1110033A15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 4
Chromosomal Location 150366103-150706423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150594483 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q80TZ9
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: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Rere
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Rere APN 4 150,703,920 (GRCm39) missense probably damaging 1.00
IGL01465:Rere APN 4 150,594,451 (GRCm39) missense unknown
IGL01523:Rere APN 4 150,700,012 (GRCm39) missense possibly damaging 0.93
IGL01688:Rere APN 4 150,702,893 (GRCm39) missense probably damaging 1.00
IGL02057:Rere APN 4 150,699,289 (GRCm39) unclassified probably benign
IGL02621:Rere APN 4 150,698,269 (GRCm39) unclassified probably benign
R0116:Rere UTSW 4 150,701,433 (GRCm39) missense probably benign 0.18
R0119:Rere UTSW 4 150,699,779 (GRCm39) unclassified probably benign
R0344:Rere UTSW 4 150,695,438 (GRCm39) unclassified probably benign
R0504:Rere UTSW 4 150,699,779 (GRCm39) unclassified probably benign
R0630:Rere UTSW 4 150,703,545 (GRCm39) missense probably damaging 1.00
R0961:Rere UTSW 4 150,699,829 (GRCm39) unclassified probably benign
R1164:Rere UTSW 4 150,619,341 (GRCm39) missense unknown
R1424:Rere UTSW 4 150,701,495 (GRCm39) missense probably damaging 1.00
R1542:Rere UTSW 4 150,700,399 (GRCm39) missense probably damaging 1.00
R1652:Rere UTSW 4 150,696,522 (GRCm39) unclassified probably benign
R1953:Rere UTSW 4 150,701,294 (GRCm39) missense probably damaging 1.00
R1959:Rere UTSW 4 150,553,247 (GRCm39) missense probably benign 0.23
R1966:Rere UTSW 4 150,701,330 (GRCm39) missense probably damaging 1.00
R1975:Rere UTSW 4 150,700,190 (GRCm39) missense probably damaging 0.99
R2070:Rere UTSW 4 150,699,047 (GRCm39) unclassified probably benign
R2115:Rere UTSW 4 150,697,018 (GRCm39) unclassified probably benign
R2144:Rere UTSW 4 150,701,388 (GRCm39) missense probably damaging 0.99
R2270:Rere UTSW 4 150,561,837 (GRCm39) missense unknown
R2969:Rere UTSW 4 150,654,673 (GRCm39) missense unknown
R3699:Rere UTSW 4 150,561,819 (GRCm39) critical splice acceptor site probably null
R3723:Rere UTSW 4 150,553,252 (GRCm39) missense probably damaging 1.00
R3826:Rere UTSW 4 150,554,785 (GRCm39) missense probably benign 0.42
R4234:Rere UTSW 4 150,701,862 (GRCm39) missense probably damaging 1.00
R4512:Rere UTSW 4 150,561,909 (GRCm39) missense unknown
R4798:Rere UTSW 4 150,699,624 (GRCm39) unclassified probably benign
R4883:Rere UTSW 4 150,700,510 (GRCm39) missense probably damaging 0.98
R4914:Rere UTSW 4 150,703,601 (GRCm39) missense probably damaging 1.00
R4916:Rere UTSW 4 150,703,601 (GRCm39) missense probably damaging 1.00
R4917:Rere UTSW 4 150,703,601 (GRCm39) missense probably damaging 1.00
R4918:Rere UTSW 4 150,703,601 (GRCm39) missense probably damaging 1.00
R4966:Rere UTSW 4 150,698,273 (GRCm39) unclassified probably benign
R5172:Rere UTSW 4 150,654,726 (GRCm39) missense unknown
R5643:Rere UTSW 4 150,701,700 (GRCm39) missense probably damaging 1.00
R6058:Rere UTSW 4 150,553,255 (GRCm39) missense probably damaging 1.00
R7112:Rere UTSW 4 150,491,061 (GRCm39) missense probably benign
R7173:Rere UTSW 4 150,553,195 (GRCm39) missense probably damaging 1.00
R7190:Rere UTSW 4 150,695,410 (GRCm39) missense unknown
R7699:Rere UTSW 4 150,701,555 (GRCm39) missense
R7990:Rere UTSW 4 150,699,327 (GRCm39) missense unknown
R8070:Rere UTSW 4 150,701,832 (GRCm39) missense probably damaging 1.00
R8101:Rere UTSW 4 150,701,796 (GRCm39) missense probably damaging 1.00
R8103:Rere UTSW 4 150,701,796 (GRCm39) missense probably damaging 1.00
R8215:Rere UTSW 4 150,701,424 (GRCm39) missense possibly damaging 0.95
R8254:Rere UTSW 4 150,697,129 (GRCm39) missense unknown
R8348:Rere UTSW 4 150,703,653 (GRCm39) missense probably damaging 1.00
R8448:Rere UTSW 4 150,703,653 (GRCm39) missense probably damaging 1.00
R8725:Rere UTSW 4 150,701,792 (GRCm39) nonsense probably null
R8790:Rere UTSW 4 150,593,332 (GRCm39) missense unknown
R8921:Rere UTSW 4 150,696,471 (GRCm39) missense unknown
R8937:Rere UTSW 4 150,699,331 (GRCm39) unclassified probably benign
R9345:Rere UTSW 4 150,554,770 (GRCm39) missense probably damaging 0.99
R9377:Rere UTSW 4 150,593,342 (GRCm39) missense unknown
R9490:Rere UTSW 4 150,516,040 (GRCm39) missense probably benign 0.16
R9523:Rere UTSW 4 150,703,636 (GRCm39) missense probably damaging 0.98
R9653:Rere UTSW 4 150,516,010 (GRCm39) missense probably benign 0.28
R9657:Rere UTSW 4 150,699,390 (GRCm39) missense unknown
Z1176:Rere UTSW 4 150,553,240 (GRCm39) missense probably damaging 1.00
Z1177:Rere UTSW 4 150,700,268 (GRCm39) missense
Posted On 2015-04-16