Incidental Mutation 'IGL01860:Cipc'
ID178302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cipc
Ensembl Gene ENSMUSG00000034157
Gene NameCLOCK interacting protein, circadian
Synonyms2310044G17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.212) question?
Stock #IGL01860
Quality Score
Status
Chromosome12
Chromosomal Location86947043-86965362 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86960273 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 60 (D60E)
Ref Sequence ENSEMBL: ENSMUSP00000140266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038369] [ENSMUST00000185434] [ENSMUST00000187814] [ENSMUST00000188046] [ENSMUST00000189246] [ENSMUST00000190588] [ENSMUST00000191032] [ENSMUST00000191463]
Predicted Effect probably damaging
Transcript: ENSMUST00000038369
AA Change: D60E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038630
Gene: ENSMUSG00000034157
AA Change: D60E

DomainStartEndE-ValueType
Pfam:CiPC 52 388 6.6e-107 PFAM
low complexity region 390 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185434
Predicted Effect probably benign
Transcript: ENSMUST00000185783
Predicted Effect unknown
Transcript: ENSMUST00000186499
AA Change: D119E
Predicted Effect probably damaging
Transcript: ENSMUST00000187814
AA Change: D81E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141049
Gene: ENSMUSG00000034157
AA Change: D81E

DomainStartEndE-ValueType
low complexity region 72 84 N/A INTRINSIC
low complexity region 167 175 N/A INTRINSIC
low complexity region 243 253 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
coiled coil region 364 396 N/A INTRINSIC
low complexity region 411 429 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188046
Predicted Effect probably damaging
Transcript: ENSMUST00000189246
AA Change: D60E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140266
Gene: ENSMUSG00000034157
AA Change: D60E

DomainStartEndE-ValueType
low complexity region 51 63 N/A INTRINSIC
low complexity region 146 154 N/A INTRINSIC
low complexity region 222 232 N/A INTRINSIC
low complexity region 290 305 N/A INTRINSIC
coiled coil region 343 375 N/A INTRINSIC
low complexity region 390 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190588
Predicted Effect probably benign
Transcript: ENSMUST00000191032
Predicted Effect probably damaging
Transcript: ENSMUST00000191463
AA Change: D78E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140683
Gene: ENSMUSG00000034157
AA Change: D78E

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
low complexity region 164 172 N/A INTRINSIC
low complexity region 240 250 N/A INTRINSIC
low complexity region 308 323 N/A INTRINSIC
coiled coil region 361 393 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal circadian rhythms and behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,416 N248Y possibly damaging Het
Adamts13 G A 2: 26,978,011 V128M probably damaging Het
Agl A T 3: 116,772,526 probably benign Het
Arfgef1 A T 1: 10,154,396 M1405K probably damaging Het
Atp6v1a G T 16: 44,099,956 L426M probably damaging Het
Cdc123 A G 2: 5,803,941 probably benign Het
Cept1 A G 3: 106,531,128 probably benign Het
Exosc3 A G 4: 45,319,659 I121T probably benign Het
Fam155a A T 8: 9,207,831 V439E probably damaging Het
Fam26f A G 10: 34,126,565 V174A probably damaging Het
Fbln5 A G 12: 101,809,869 Y89H probably damaging Het
Fhod3 T A 18: 24,903,948 I154N probably damaging Het
Fhod3 T C 18: 24,897,681 F128L probably damaging Het
Fpgt T C 3: 155,086,846 T515A probably benign Het
Gas2l2 G A 11: 83,422,080 T802I probably benign Het
Gm10424 G A 5: 95,270,651 T162I probably benign Het
Gm10710 T A 3: 83,127,849 probably benign Het
Gm11639 T C 11: 104,690,921 S30P probably benign Het
Hdac4 A G 1: 91,933,695 M1051T probably benign Het
Heatr5b A G 17: 78,808,480 V849A probably damaging Het
Helb T C 10: 120,102,833 I579V probably damaging Het
Hspa1l A G 17: 34,978,811 I609V probably benign Het
Itgam C A 7: 128,070,943 Q136K probably benign Het
Kcnc1 T C 7: 46,428,130 L452P probably damaging Het
Ltbp4 T A 7: 27,319,646 T1083S probably damaging Het
Mki67 T C 7: 135,698,957 I1449M probably damaging Het
Mpp5 T C 12: 78,830,907 V531A possibly damaging Het
P2rx5 T A 11: 73,165,559 V103E probably damaging Het
Pappa A G 4: 65,205,092 D888G possibly damaging Het
Pcdhb21 G T 18: 37,514,905 M362I probably benign Het
Pde1a A G 2: 79,875,284 S333P probably damaging Het
Ppm1j A G 3: 104,784,092 T299A probably damaging Het
Ptdss2 A G 7: 141,152,836 E168G probably damaging Het
Rspry1 A G 8: 94,649,816 N322S probably benign Het
Slc7a9 T A 7: 35,457,060 V309E probably damaging Het
Slco6c1 A G 1: 97,075,823 probably benign Het
Tas2r120 T A 6: 132,657,264 M103K probably damaging Het
Tbxas1 T A 6: 38,948,627 F59I probably damaging Het
Tfpi A G 2: 84,444,034 S203P probably benign Het
Tram2 T C 1: 21,003,859 N285S possibly damaging Het
Trio T A 15: 27,846,810 D980V probably damaging Het
Trpv5 T A 6: 41,660,295 H419L probably damaging Het
Usp28 C T 9: 49,032,243 R361* probably null Het
Vmn1r6 T A 6: 57,002,689 L112* probably null Het
Vmn2r12 A T 5: 109,092,159 N179K probably benign Het
Vmn2r82 G T 10: 79,378,857 A225S probably benign Het
Zcchc4 A G 5: 52,808,356 Y334C probably damaging Het
Zfp609 T C 9: 65,702,834 E949G possibly damaging Het
Other mutations in Cipc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01953:Cipc APN 12 86952764 missense possibly damaging 0.91
IGL02218:Cipc APN 12 86961928 missense probably damaging 1.00
R4596:Cipc UTSW 12 86961954 missense probably benign 0.01
R4651:Cipc UTSW 12 86962090 missense probably benign 0.00
R4652:Cipc UTSW 12 86962090 missense probably benign 0.00
R4696:Cipc UTSW 12 86952940 splice site probably benign
R4911:Cipc UTSW 12 86952757 missense probably benign 0.02
R5634:Cipc UTSW 12 86952975 intron probably null
R6667:Cipc UTSW 12 86962090 missense probably benign 0.00
Posted On2014-05-07