Incidental Mutation 'R6830:Ccnj'
ID534375
Institutional Source Beutler Lab
Gene Symbol Ccnj
Ensembl Gene ENSMUSG00000025010
Gene Namecyclin J
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #R6830 (G1)
Quality Score225.009
Status Validated
Chromosome19
Chromosomal Location40831279-40848572 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40845192 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 231 (E231G)
Ref Sequence ENSEMBL: ENSMUSP00000113712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025983] [ENSMUST00000119316] [ENSMUST00000120057]
Predicted Effect probably benign
Transcript: ENSMUST00000025983
AA Change: E243G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000025983
Gene: ENSMUSG00000025010
AA Change: E243G

DomainStartEndE-ValueType
CYCLIN 45 136 1.59e-13 SMART
Cyclin_C 145 282 7.02e-21 SMART
CYCLIN 153 248 2.1e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119316
AA Change: E243G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112643
Gene: ENSMUSG00000025010
AA Change: E243G

DomainStartEndE-ValueType
CYCLIN 45 136 1.59e-13 SMART
Cyclin_C 145 282 7.02e-21 SMART
CYCLIN 153 248 2.1e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120057
AA Change: E231G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113712
Gene: ENSMUSG00000025010
AA Change: E231G

DomainStartEndE-ValueType
CYCLIN 45 136 1.59e-13 SMART
Cyclin_C 145 270 6.99e-7 SMART
Meta Mutation Damage Score 0.3567 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,176,184 S135P probably benign Het
4930503B20Rik T C 3: 146,650,961 D64G possibly damaging Het
Amtn T C 5: 88,378,097 L40P probably damaging Het
Ano6 A G 15: 95,894,461 R90G probably damaging Het
Arfgef3 A C 10: 18,664,889 probably null Het
Asxl3 C T 18: 22,525,388 P2152S probably benign Het
Atp7b A T 8: 22,022,365 V494E probably damaging Het
Bik T A 15: 83,544,208 Y146N probably benign Het
C1qtnf7 A T 5: 43,609,094 I12F possibly damaging Het
Cacna1e A G 1: 154,413,974 probably null Het
Cd101 T C 3: 100,993,696 K1020R probably benign Het
Cdh6 C A 15: 13,044,774 V421L probably benign Het
Decr1 T C 4: 15,924,355 probably null Het
Dmxl1 C T 18: 49,921,024 P2566S probably damaging Het
Dock9 G A 14: 121,622,918 P866L probably damaging Het
Epx A G 11: 87,868,626 F546L probably damaging Het
Fat4 T A 3: 38,981,817 M3206K probably benign Het
Fgb T C 3: 83,045,025 D179G probably benign Het
Gbgt1 A G 2: 28,505,208 D286G probably damaging Het
Gm8251 A G 1: 44,056,730 V1736A probably benign Het
Gpn1 T A 5: 31,507,488 S285R probably benign Het
Htt T A 5: 34,834,326 Y1212N possibly damaging Het
Kcnj13 T C 1: 87,387,023 K159R probably damaging Het
Ldb2 T A 5: 44,541,857 I80F probably damaging Het
Macrod2 T A 2: 140,452,682 N89K probably damaging Het
Mdga2 G A 12: 66,723,001 R173C probably damaging Het
Mroh9 A G 1: 163,076,366 F26L probably benign Het
Neil3 G T 8: 53,599,479 N361K probably benign Het
Nepro A G 16: 44,731,357 R193G probably damaging Het
Olfr653 T A 7: 104,580,240 I198N probably damaging Het
Pclo A T 5: 14,681,099 Q3205L unknown Het
Plekhm1 A T 11: 103,376,889 I752N probably damaging Het
Podn T C 4: 108,021,417 T273A possibly damaging Het
Prep T A 10: 45,097,501 M235K probably benign Het
Ptprc A T 1: 138,072,255 probably null Het
Reg2 A G 6: 78,407,642 H119R possibly damaging Het
Rpe65 T C 3: 159,614,168 V225A probably benign Het
Scn9a T C 2: 66,568,029 D79G probably damaging Het
Slc25a23 G A 17: 57,053,804 R9* probably null Het
Snai3 A G 8: 122,456,473 L111P probably damaging Het
Stk38 A G 17: 29,000,007 probably null Het
Stk38l A T 6: 146,766,771 I115F possibly damaging Het
Tmco6 T A 18: 36,738,353 probably null Het
Tollip A T 7: 141,898,714 M1K probably null Het
Trim40 T C 17: 36,888,850 Y112C possibly damaging Het
Ttc27 T A 17: 74,856,555 Y719* probably null Het
Ubald1 T C 16: 4,879,720 D6G probably damaging Het
Vmn2r59 A T 7: 42,043,747 S476R probably benign Het
Wfdc3 C T 2: 164,734,258 G38R possibly damaging Het
Zbtb21 C T 16: 97,951,961 G402D probably damaging Het
Zfp84 A G 7: 29,776,486 Y201C probably benign Het
Zswim2 T A 2: 83,939,684 H62L probably damaging Het
Other mutations in Ccnj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01903:Ccnj APN 19 40846010 missense probably damaging 1.00
IGL02584:Ccnj APN 19 40844741 missense probably benign 0.04
R0220:Ccnj UTSW 19 40844810 missense probably damaging 0.99
R0452:Ccnj UTSW 19 40845064 splice site probably null
R0693:Ccnj UTSW 19 40837107 missense probably damaging 1.00
R1600:Ccnj UTSW 19 40844657 splice site probably benign
R2237:Ccnj UTSW 19 40845775 missense probably benign 0.00
R2258:Ccnj UTSW 19 40845833 missense probably benign 0.00
R2879:Ccnj UTSW 19 40844714 missense probably damaging 1.00
R6162:Ccnj UTSW 19 40845162 missense probably damaging 1.00
R6384:Ccnj UTSW 19 40846007 missense probably benign 0.09
R6528:Ccnj UTSW 19 40832085 splice site probably null
R7338:Ccnj UTSW 19 40837033 missense probably damaging 1.00
R7346:Ccnj UTSW 19 40844950 missense probably benign 0.28
R8472:Ccnj UTSW 19 40845164 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GTGCATGGTGACTCAAGTGTTC -3'
(R):5'- GGTCGTACCAGTAACAGGATCAC -3'

Sequencing Primer
(F):5'- ACTCAAGTGTTCTGTTGCTCAG -3'
(R):5'- TACCAGTAACAGGATCACAGGCAAAG -3'
Posted On2018-09-12