Incidental Mutation 'R7006:Cir1'
ID544704
Institutional Source Beutler Lab
Gene Symbol Cir1
Ensembl Gene ENSMUSG00000041777
Gene Namecorepressor interacting with RBPJ, 1
SynonymsCIR, 1700023B02Rik, 2810021A19Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7006 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location73283105-73312701 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73310490 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 45 (Q45R)
Ref Sequence ENSEMBL: ENSMUSP00000049834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058615] [ENSMUST00000090811] [ENSMUST00000112050]
Predicted Effect probably damaging
Transcript: ENSMUST00000058615
AA Change: Q45R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049834
Gene: ENSMUSG00000041777
AA Change: Q45R

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 probably benign
Transcript: ENSMUST00000090811
SMART Domains Protein: ENSMUSP00000088320
Gene: ENSMUSG00000008226

DomainStartEndE-ValueType
Pfam:Peptidase_C69 50 268 4.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112050
SMART Domains Protein: ENSMUSP00000107681
Gene: ENSMUSG00000008226

DomainStartEndE-ValueType
Pfam:Peptidase_C69 14 185 9.3e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 G A 13: 68,888,020 T174M probably damaging Het
Ankfy1 T A 11: 72,740,464 I412N probably benign Het
AW146154 T C 7: 41,481,224 E156G possibly damaging Het
B4galnt1 T C 10: 127,169,831 L267P probably benign Het
Bod1l T C 5: 41,832,552 E276G probably damaging Het
Ccdc187 T C 2: 26,281,090 T459A probably benign Het
Cep72 G A 13: 74,050,308 Q311* probably null Het
Ciz1 T C 2: 32,371,115 probably null Het
Crtap G T 9: 114,386,323 A166E probably damaging Het
Dmp1 A G 5: 104,212,322 D288G probably benign Het
Dusp27 T C 1: 166,099,094 N983S probably benign Het
Fam69a A G 5: 107,910,161 V132A probably benign Het
Fhad1 CGG CG 4: 141,918,291 probably null Het
Fmnl2 C A 2: 53,108,254 Q544K probably benign Het
Gm13178 A G 4: 144,721,283 V41A probably benign Het
Gm6657 T A 12: 78,208,928 *177R probably null Het
Gpsm1 T C 2: 26,322,560 L72P probably damaging Het
Gys1 G A 7: 45,440,013 A199T probably damaging Het
Kcnq3 A C 15: 66,020,316 Y403* probably null Het
Kcp A C 6: 29,499,170 Y298D probably damaging Het
Kif5c T C 2: 49,735,514 S599P probably damaging Het
Krt20 A T 11: 99,437,761 Y113N probably benign Het
Mcm8 T G 2: 132,823,261 V191G probably damaging Het
Msr1 T A 8: 39,589,382 D384V probably damaging Het
Mtpap A C 18: 4,380,873 S184R possibly damaging Het
Npc1l1 G A 11: 6,217,731 T1020M probably benign Het
Nphp4 A G 4: 152,488,802 T66A probably benign Het
Olfr1049 T A 2: 86,255,228 Q155L probably benign Het
Olfr1100 G A 2: 86,977,959 T279I probably damaging Het
Olfr1306 C A 2: 111,912,256 V225L probably benign Het
Olfr98 T A 17: 37,262,734 *310L probably null Het
Phf11d G T 14: 59,353,374 T178K probably benign Het
Ppm1d A G 11: 85,337,151 K298E possibly damaging Het
Rab2b A T 14: 52,266,233 I144K probably benign Het
Stoml1 A G 9: 58,260,240 D5G probably damaging Het
Tanc1 T C 2: 59,795,844 V515A probably damaging Het
Tas1r3 A G 4: 155,862,904 V108A possibly damaging Het
Tcrg-C4 T A 13: 19,344,825 probably benign Het
Tifab T C 13: 56,176,246 Y128C probably benign Het
Tmc6 G T 11: 117,774,257 R397S probably damaging Het
Tnpo3 C T 6: 29,589,163 A63T probably damaging Het
Usp16 G T 16: 87,471,836 C284F probably damaging Het
Wipf1 T C 2: 73,437,097 D319G probably damaging Het
Xpnpep3 T A 15: 81,442,448 W347R probably damaging Het
Zfp180 G T 7: 24,105,112 E319* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- GTTCACCATCTCTGAGAGCC -3'
(R):5'- TCATTATAGAAGACAAGTGGGCTGG -3'

Sequencing Primer
(F):5'- TCACGTAGGATTCGCTCCCAG -3'
(R):5'- ACAGGAGTTCCTCTGTGCAAG -3'
Posted On2019-05-13