Incidental Mutation 'IGL01304:Cir1'
ID73378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cir1
Ensembl Gene ENSMUSG00000041777
Gene Namecorepressor interacting with RBPJ, 1
SynonymsCIR, 1700023B02Rik, 2810021A19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01304
Quality Score
Status
Chromosome2
Chromosomal Location73283105-73312701 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 73287724 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000049834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058615]
Predicted Effect probably null
Transcript: ENSMUST00000058615
SMART Domains Protein: ENSMUSP00000049834
Gene: ENSMUSG00000041777

DomainStartEndE-ValueType
Cir_N 13 49 6.03e-14 SMART
low complexity region 79 97 N/A INTRINSIC
Blast:ZnF_C2HC 127 145 9e-6 BLAST
coiled coil region 213 261 N/A INTRINSIC
low complexity region 385 412 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147133
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in Cir1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02969:Cir1 APN 2 73303776 missense probably null 1.00
IGL03019:Cir1 APN 2 73286348 missense unknown
R0532:Cir1 UTSW 2 73310455 critical splice donor site probably null
R1052:Cir1 UTSW 2 73287643 missense probably damaging 1.00
R1366:Cir1 UTSW 2 73306413 splice site probably benign
R1752:Cir1 UTSW 2 73310538 missense probably damaging 1.00
R2140:Cir1 UTSW 2 73312437 missense probably damaging 1.00
R4740:Cir1 UTSW 2 73312523 unclassified probably benign
R4954:Cir1 UTSW 2 73310504 missense probably benign 0.40
R5096:Cir1 UTSW 2 73303761 missense probably damaging 1.00
R5134:Cir1 UTSW 2 73284503 nonsense probably null
R5821:Cir1 UTSW 2 73312460 missense probably damaging 1.00
R7006:Cir1 UTSW 2 73310490 missense probably damaging 0.99
R7183:Cir1 UTSW 2 73286386 missense probably damaging 1.00
R7706:Cir1 UTSW 2 73312479 missense probably damaging 1.00
R7724:Cir1 UTSW 2 73306890 missense possibly damaging 0.85
Posted On2013-10-07