Incidental Mutation 'IGL00821:Rere'
ID 13803
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 # IGL00821
Quality Score
Status
Chromosome 4
Chromosomal Location 150366103-150706423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 150703920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1551 (K1551E)
Ref Sequence ENSEMBL: ENSMUSP00000101307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105680] [ENSMUST00000105682] [ENSMUST00000136646]
AlphaFold Q80TZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000105680
AA Change: K1283E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: K1283E

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 probably damaging
Transcript: ENSMUST00000105682
AA Change: K1551E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: K1551E

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
Predicted Effect probably damaging
Transcript: ENSMUST00000136646
AA Change: K192E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121544
Gene: ENSMUSG00000039852
AA Change: K192E

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 199 2.2e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219467
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cad T C 5: 31,218,828 (GRCm39) Y550H probably damaging Het
Cep350 A G 1: 155,737,950 (GRCm39) V2631A probably benign Het
Cpa2 A G 6: 30,564,411 (GRCm39) D414G probably benign Het
Dhx38 T C 8: 110,282,286 (GRCm39) I714V probably benign Het
Dis3 T C 14: 99,328,922 (GRCm39) I277V probably benign Het
Espl1 T C 15: 102,208,248 (GRCm39) L418P probably damaging Het
F7 A G 8: 13,078,802 (GRCm39) T78A probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Golga3 C A 5: 110,352,799 (GRCm39) H897N possibly damaging Het
Itgae T A 11: 73,013,974 (GRCm39) D724E probably damaging Het
Klb A T 5: 65,529,492 (GRCm39) Y340F probably damaging Het
Kmt2b A T 7: 30,270,038 (GRCm39) L2436Q probably damaging Het
Krt17 A G 11: 100,151,457 (GRCm39) L112P probably damaging Het
Lrp2 T A 2: 69,289,860 (GRCm39) N3660Y probably damaging Het
Mia2 T C 12: 59,217,106 (GRCm39) probably null Het
Myh2 C T 11: 67,088,223 (GRCm39) probably benign Het
Nr2f1 A G 13: 78,346,233 (GRCm39) probably benign Het
Odf2l T A 3: 144,856,748 (GRCm39) S568T probably damaging Het
Parl G A 16: 20,116,958 (GRCm39) P80S probably damaging Het
Ppfibp2 T G 7: 107,329,083 (GRCm39) F531V probably damaging Het
Prpf40b A G 15: 99,214,382 (GRCm39) E854G probably benign Het
Sacm1l A T 9: 123,399,614 (GRCm39) Q302L possibly damaging Het
Slc41a2 A G 10: 83,149,394 (GRCm39) probably benign Het
Smchd1 T C 17: 71,705,618 (GRCm39) T994A possibly damaging Het
Ubxn7 G A 16: 32,188,216 (GRCm39) D125N probably damaging Het
Zfp667 A G 7: 6,308,396 (GRCm39) N355D possibly damaging Het
Zfp839 T C 12: 110,831,441 (GRCm39) probably null Het
Zfpm2 T A 15: 40,966,783 (GRCm39) N957K probably damaging Het
Other mutations in Rere
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02672:Rere APN 4 150,594,483 (GRCm39) missense unknown
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 2012-12-06