Incidental Mutation 'IGL03019:Cir1'
ID 407992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cir1
Ensembl Gene ENSMUSG00000041777
Gene Name corepressor interacting with RBPJ, 1
Synonyms CIR, 2810021A19Rik, 1700023B02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03019
Quality Score
Status
Chromosome 2
Chromosomal Location 73113445-73142922 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73116692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 223 (K223E)
Ref Sequence ENSEMBL: ENSMUSP00000049834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058615]
AlphaFold Q9DA19
Predicted Effect unknown
Transcript: ENSMUST00000058615
AA Change: K223E
SMART Domains Protein: ENSMUSP00000049834
Gene: ENSMUSG00000041777
AA Change: K223E

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T A 9: 121,738,248 (GRCm39) Y208N probably benign Het
Agap2 T C 10: 126,927,431 (GRCm39) probably benign Het
Arhgap21 A T 2: 20,865,874 (GRCm39) I914N probably damaging Het
Brsk1 T C 7: 4,713,496 (GRCm39) probably benign Het
Cachd1 A T 4: 100,809,282 (GRCm39) T256S probably damaging Het
Ccdc171 G T 4: 83,713,545 (GRCm39) G1195W probably damaging Het
Cept1 A G 3: 106,411,957 (GRCm39) M339T probably damaging Het
Cited2 A T 10: 17,599,910 (GRCm39) M73L probably benign Het
Drg2 T C 11: 60,347,421 (GRCm39) Y37H probably damaging Het
Drosha T C 15: 12,846,185 (GRCm39) L440P probably damaging Het
Dsc1 G A 18: 20,221,421 (GRCm39) P685S probably benign Het
Epha1 T A 6: 42,339,686 (GRCm39) D639V probably damaging Het
Inka2 G T 3: 105,623,687 (GRCm39) M1I probably null Het
Izumo4 A G 10: 80,539,680 (GRCm39) probably benign Het
Kcnmb2 A T 3: 32,252,299 (GRCm39) R167W probably damaging Het
Lce1k A C 3: 92,714,086 (GRCm39) C33G unknown Het
Map7 C T 10: 20,143,101 (GRCm39) P417S unknown Het
Myo18b A G 5: 112,840,263 (GRCm39) V2510A probably benign Het
Rubcn A T 16: 32,647,077 (GRCm39) V787D probably damaging Het
Spen A T 4: 141,206,227 (GRCm39) L800Q unknown Het
Zfp276 C A 8: 123,994,673 (GRCm39) T580N probably damaging Het
Zfp354c G T 11: 50,708,021 (GRCm39) P60T probably damaging Het
Other mutations in Cir1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Cir1 APN 2 73,118,068 (GRCm39) splice site probably null
IGL02969:Cir1 APN 2 73,134,120 (GRCm39) missense probably null 1.00
magellanic UTSW 2 73,136,757 (GRCm39) splice site probably benign
penguin UTSW 2 73,142,823 (GRCm39) missense probably damaging 1.00
R0532:Cir1 UTSW 2 73,140,799 (GRCm39) critical splice donor site probably null
R1052:Cir1 UTSW 2 73,117,987 (GRCm39) missense probably damaging 1.00
R1366:Cir1 UTSW 2 73,136,757 (GRCm39) splice site probably benign
R1752:Cir1 UTSW 2 73,140,882 (GRCm39) missense probably damaging 1.00
R2140:Cir1 UTSW 2 73,142,781 (GRCm39) missense probably damaging 1.00
R4740:Cir1 UTSW 2 73,142,867 (GRCm39) unclassified probably benign
R4954:Cir1 UTSW 2 73,140,848 (GRCm39) missense probably benign 0.40
R5096:Cir1 UTSW 2 73,134,105 (GRCm39) missense probably damaging 1.00
R5134:Cir1 UTSW 2 73,114,847 (GRCm39) nonsense probably null
R5821:Cir1 UTSW 2 73,142,804 (GRCm39) missense probably damaging 1.00
R7006:Cir1 UTSW 2 73,140,834 (GRCm39) missense probably damaging 0.99
R7183:Cir1 UTSW 2 73,116,730 (GRCm39) missense probably damaging 1.00
R7706:Cir1 UTSW 2 73,142,823 (GRCm39) missense probably damaging 1.00
R7724:Cir1 UTSW 2 73,137,234 (GRCm39) missense possibly damaging 0.85
R7921:Cir1 UTSW 2 73,140,799 (GRCm39) critical splice donor site probably null
R8922:Cir1 UTSW 2 73,118,053 (GRCm39) missense possibly damaging 0.94
R9514:Cir1 UTSW 2 73,142,781 (GRCm39) missense probably damaging 1.00
R9746:Cir1 UTSW 2 73,134,152 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02