Incidental Mutation 'IGL03019:Cir1'
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ID407992
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 #IGL03019
Quality Score
Status
Chromosome2
Chromosomal Location73283105-73312701 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73286348 bp
ZygosityHeterozygous
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]
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: 121,909,182 Y208N probably benign Het
Agap2 T C 10: 127,091,562 probably benign Het
Arhgap21 A T 2: 20,861,063 I914N probably damaging Het
Brsk1 T C 7: 4,710,497 probably benign Het
Cachd1 A T 4: 100,952,085 T256S probably damaging Het
Ccdc171 G T 4: 83,795,308 G1195W probably damaging Het
Cept1 A G 3: 106,504,641 M339T probably damaging Het
Cited2 A T 10: 17,724,162 M73L probably benign Het
Drg2 T C 11: 60,456,595 Y37H probably damaging Het
Drosha T C 15: 12,846,099 L440P probably damaging Het
Dsc1 G A 18: 20,088,364 P685S probably benign Het
Epha1 T A 6: 42,362,752 D639V probably damaging Het
Fam212b G T 3: 105,716,371 M1I probably null Het
Izumo4 A G 10: 80,703,846 probably benign Het
Kcnmb2 A T 3: 32,198,150 R167W probably damaging Het
Lce1k A C 3: 92,806,779 C33G unknown Het
Map7 C T 10: 20,267,355 P417S unknown Het
Myo18b A G 5: 112,692,397 V2510A probably benign Het
Rubcn A T 16: 32,826,707 V787D probably damaging Het
Spen A T 4: 141,478,916 L800Q unknown Het
Zfp276 C A 8: 123,267,934 T580N probably damaging Het
Zfp354c G T 11: 50,817,194 P60T probably damaging Het
Other mutations in Cir1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Cir1 APN 2 73287724 splice site probably null
IGL02969:Cir1 APN 2 73303776 missense probably null 1.00
magellanic UTSW 2 73306413 splice site probably benign
penguin UTSW 2 73312479 missense probably damaging 1.00
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
R7921:Cir1 UTSW 2 73310455 critical splice donor site probably null
Posted On2016-08-02