Incidental Mutation 'R5081:Ccpg1'
ID 387128
Institutional Source Beutler Lab
Gene Symbol Ccpg1
Ensembl Gene ENSMUSG00000034563
Gene Name cell cycle progression 1
Synonyms 9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72892711-72923622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72906360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 39 (T39A)
Ref Sequence ENSEMBL: ENSMUSP00000117202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037977] [ENSMUST00000085350] [ENSMUST00000124008] [ENSMUST00000140675] [ENSMUST00000149692] [ENSMUST00000150826] [ENSMUST00000156879]
AlphaFold Q640L3
Predicted Effect probably benign
Transcript: ENSMUST00000037977
AA Change: T39A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563
AA Change: T39A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
coiled coil region 296 450 N/A INTRINSIC
low complexity region 566 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085350
AA Change: T39A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563
AA Change: T39A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
coiled coil region 296 450 N/A INTRINSIC
low complexity region 566 572 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000124008
AA Change: T39A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121059
Gene: ENSMUSG00000034563
AA Change: T39A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140675
AA Change: T39A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563
AA Change: T39A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
coiled coil region 296 450 N/A INTRINSIC
low complexity region 566 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149551
Predicted Effect probably benign
Transcript: ENSMUST00000149692
SMART Domains Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865

DomainStartEndE-ValueType
Pfam:CS 6 77 2.1e-9 PFAM
coiled coil region 101 161 N/A INTRINSIC
Pfam:TPR_11 286 352 2e-14 PFAM
Pfam:TPR_1 322 352 5.6e-6 PFAM
Blast:TPR 364 386 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000150826
AA Change: T39A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563
AA Change: T39A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 187 209 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
coiled coil region 296 450 N/A INTRINSIC
low complexity region 566 572 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000156879
AA Change: T39A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117202
Gene: ENSMUSG00000034563
AA Change: T39A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Ccpg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Ccpg1 APN 9 72,913,159 (GRCm39) missense probably damaging 1.00
IGL01710:Ccpg1 APN 9 72,904,723 (GRCm39) utr 3 prime probably benign
IGL01818:Ccpg1 APN 9 72,904,735 (GRCm39) missense probably damaging 1.00
K7894:Ccpg1 UTSW 9 72,909,159 (GRCm39) critical splice donor site probably null
R0586:Ccpg1 UTSW 9 72,909,103 (GRCm39) missense probably benign 0.00
R1188:Ccpg1 UTSW 9 72,919,788 (GRCm39) missense possibly damaging 0.55
R1503:Ccpg1 UTSW 9 72,906,760 (GRCm39) missense probably benign 0.00
R1599:Ccpg1 UTSW 9 72,906,407 (GRCm39) nonsense probably null
R2130:Ccpg1 UTSW 9 72,920,440 (GRCm39) missense probably damaging 0.98
R2188:Ccpg1 UTSW 9 72,920,388 (GRCm39) missense probably benign 0.00
R3052:Ccpg1 UTSW 9 72,913,150 (GRCm39) missense probably damaging 1.00
R4155:Ccpg1 UTSW 9 72,919,449 (GRCm39) missense probably benign 0.38
R4156:Ccpg1 UTSW 9 72,919,449 (GRCm39) missense probably benign 0.38
R4157:Ccpg1 UTSW 9 72,919,449 (GRCm39) missense probably benign 0.38
R4257:Ccpg1 UTSW 9 72,919,909 (GRCm39) missense probably damaging 1.00
R4677:Ccpg1 UTSW 9 72,923,197 (GRCm39) intron probably benign
R5227:Ccpg1 UTSW 9 72,919,354 (GRCm39) nonsense probably null
R5288:Ccpg1 UTSW 9 72,920,326 (GRCm39) missense probably benign
R5385:Ccpg1 UTSW 9 72,920,326 (GRCm39) missense probably benign
R5386:Ccpg1 UTSW 9 72,920,326 (GRCm39) missense probably benign
R5412:Ccpg1 UTSW 9 72,917,588 (GRCm39) missense probably damaging 1.00
R5754:Ccpg1 UTSW 9 72,920,526 (GRCm39) missense possibly damaging 0.78
R6230:Ccpg1 UTSW 9 72,919,638 (GRCm39) missense probably benign 0.00
R7269:Ccpg1 UTSW 9 72,920,609 (GRCm39) missense probably benign 0.06
R7287:Ccpg1 UTSW 9 72,922,688 (GRCm39) missense probably benign 0.05
R7542:Ccpg1 UTSW 9 72,919,741 (GRCm39) missense probably damaging 1.00
R7882:Ccpg1 UTSW 9 72,922,787 (GRCm39) missense probably damaging 1.00
R8266:Ccpg1 UTSW 9 72,913,001 (GRCm39) missense probably damaging 1.00
R8268:Ccpg1 UTSW 9 72,913,001 (GRCm39) missense probably damaging 1.00
R8269:Ccpg1 UTSW 9 72,913,001 (GRCm39) missense probably damaging 1.00
R8345:Ccpg1 UTSW 9 72,913,001 (GRCm39) missense probably damaging 1.00
R8829:Ccpg1 UTSW 9 72,917,633 (GRCm39) missense probably benign 0.00
R9450:Ccpg1 UTSW 9 72,904,703 (GRCm39) missense unknown
R9648:Ccpg1 UTSW 9 72,919,312 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCAGGCCTGTATAGACTGAG -3'
(R):5'- ACACTTGCTGGCAGGTTTTC -3'

Sequencing Primer
(F):5'- CAGGCCTGTATAGACTGAGTTGAAC -3'
(R):5'- CCTCCATGCCCTACATAAAG -3'
Posted On 2016-06-06