Incidental Mutation 'R5303:Cinp'
ID404370
Institutional Source Beutler Lab
Gene Symbol Cinp
Ensembl Gene ENSMUSG00000021276
Gene Namecyclin-dependent kinase 2 interacting protein
Synonyms
MMRRC Submission 042886-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5303 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location110872610-110889145 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 110876861 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 139 (T139M)
Ref Sequence ENSEMBL: ENSMUSP00000152359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043716] [ENSMUST00000220607] [ENSMUST00000221102] [ENSMUST00000221182] [ENSMUST00000222457] [ENSMUST00000223079]
Predicted Effect probably damaging
Transcript: ENSMUST00000043716
AA Change: T139M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035245
Gene: ENSMUSG00000021276
AA Change: T139M

DomainStartEndE-ValueType
low complexity region 54 78 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000220607
AA Change: T189M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220631
Predicted Effect probably benign
Transcript: ENSMUST00000221102
Predicted Effect probably damaging
Transcript: ENSMUST00000221182
AA Change: T66M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000221414
AA Change: T77M
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221963
Predicted Effect probably damaging
Transcript: ENSMUST00000222457
AA Change: T139M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223079
Predicted Effect probably benign
Transcript: ENSMUST00000223170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223407
Meta Mutation Damage Score 0.1991 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,406,350 G531A probably damaging Het
2410089E03Rik G A 15: 8,260,690 probably null Het
4921504E06Rik A G 2: 19,516,299 Y256H possibly damaging Het
Abcc12 C A 8: 86,509,786 R1133L probably benign Het
Acss3 T A 10: 107,084,851 T133S possibly damaging Het
Adra1d G A 2: 131,546,249 P462L possibly damaging Het
Ank2 A T 3: 126,945,804 probably benign Het
Arid2 G A 15: 96,392,468 R1748Q probably damaging Het
B3glct C T 5: 149,754,023 probably benign Het
C3ar1 A T 6: 122,849,835 S474R probably damaging Het
Cd1d1 A G 3: 86,998,120 F189L probably benign Het
Cd46 T C 1: 195,062,399 I344V probably benign Het
Chrna1 T C 2: 73,566,274 M426V probably benign Het
Disp2 T C 2: 118,810,848 probably benign Het
Eapp G A 12: 54,692,918 P38L probably damaging Het
Eif4g3 T C 4: 138,126,562 S480P probably benign Het
Epb41l3 G C 17: 69,257,449 E390Q probably damaging Het
Fermt1 T C 2: 132,911,339 probably null Het
Foxf2 T A 13: 31,626,480 F134Y possibly damaging Het
Foxp2 T A 6: 15,324,637 C95S probably benign Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gria1 A G 11: 57,243,025 T577A probably benign Het
Hal A G 10: 93,516,365 probably benign Het
Hdac7 C A 15: 97,798,018 E670D probably damaging Het
Islr2 A T 9: 58,208,275 probably benign Het
Itpr3 T C 17: 27,116,689 Y2258H probably benign Het
Mical3 G T 6: 120,959,980 T1195K probably benign Het
Myh1 T C 11: 67,202,017 S46P probably benign Het
Mylk3 T A 8: 85,350,476 I444F probably damaging Het
Nlrc3 A T 16: 3,963,614 C644S probably benign Het
Notch1 C T 2: 26,478,619 V553M probably benign Het
Olfr1245 T A 2: 89,575,001 I242F possibly damaging Het
Olfr1454 T A 19: 13,063,775 Y121* probably null Het
Olfr644 T C 7: 104,069,032 probably benign Het
Olfr979 A G 9: 40,000,588 I213T probably damaging Het
Pih1d3 G A 1: 31,223,456 R173H probably damaging Het
Postn A G 3: 54,377,597 T669A probably damaging Het
Ppp5c G T 7: 17,005,284 Q472K probably benign Het
Qsox1 T C 1: 155,779,293 H708R probably benign Het
Rhbdl2 A G 4: 123,810,221 probably benign Het
Ryr1 C T 7: 29,068,482 E2884K probably damaging Het
Saysd1 T C 14: 20,082,958 T44A probably benign Het
Sept14 T A 5: 129,689,648 M290L possibly damaging Het
Sh3bp5 C A 14: 31,377,495 R265L probably benign Het
Slc38a8 C A 8: 119,486,041 V294L possibly damaging Het
Spdye4b C T 5: 143,202,403 T217I probably benign Het
Sugp2 T A 8: 70,242,177 probably benign Het
Syne1 T C 10: 5,420,464 T232A probably benign Het
Tbc1d5 A T 17: 50,736,200 D753E probably benign Het
Tmed1 G T 9: 21,510,047 Q44K possibly damaging Het
Ttc6 T A 12: 57,575,820 S2T possibly damaging Het
Ube4b T C 4: 149,383,803 D172G probably damaging Het
Vmn1r235 C A 17: 21,262,006 Q198K probably benign Het
Wdfy3 T C 5: 101,952,983 H256R probably damaging Het
Zfat A T 15: 68,110,486 H1059Q probably damaging Het
Zfp758 A G 17: 22,374,861 I77M probably benign Het
Zfp850 C T 7: 28,008,413 A2T probably damaging Het
Zfyve1 A T 12: 83,575,056 N188K probably damaging Het
Zyg11a C T 4: 108,184,432 probably null Het
Other mutations in Cinp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2318:Cinp UTSW 12 110874009 missense probably damaging 1.00
R4812:Cinp UTSW 12 110879740 missense probably damaging 1.00
R4908:Cinp UTSW 12 110884053 missense probably damaging 0.99
R5209:Cinp UTSW 12 110874060 missense probably benign 0.03
R7635:Cinp UTSW 12 110884013 missense possibly damaging 0.64
R7867:Cinp UTSW 12 110874123 missense probably benign 0.06
R7950:Cinp UTSW 12 110874123 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AAGCTGATCACTGTTCTGCTTTTG -3'
(R):5'- TGGAATTTTAGCCCCACTAGGAC -3'

Sequencing Primer
(F):5'- GGAATGTATGTCACCAAATCTGCC -3'
(R):5'- TTTTAGCCCCACTAGGACTAAACGTC -3'
Posted On2016-07-22