Incidental Mutation 'R5476:Cep128'
ID 434090
Institutional Source Beutler Lab
Gene Symbol Cep128
Ensembl Gene ENSMUSG00000061533
Gene Name centrosomal protein 128
Synonyms 5430424K18Rik, 4930534B04Rik
MMRRC Submission 043037-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R5476 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 90965266-91351183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91180392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 917 (E917G)
Ref Sequence ENSEMBL: ENSMUSP00000115679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140674] [ENSMUST00000141429] [ENSMUST00000143415]
AlphaFold Q8BI22
Predicted Effect probably benign
Transcript: ENSMUST00000140674
SMART Domains Protein: ENSMUSP00000119394
Gene: ENSMUSG00000061533

DomainStartEndE-ValueType
low complexity region 112 119 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141429
AA Change: E917G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: E917G

DomainStartEndE-ValueType
low complexity region 89 110 N/A INTRINSIC
coiled coil region 216 329 N/A INTRINSIC
low complexity region 340 352 N/A INTRINSIC
coiled coil region 377 822 N/A INTRINSIC
coiled coil region 876 960 N/A INTRINSIC
low complexity region 1091 1102 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000143415
AA Change: E464G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533
AA Change: E464G

DomainStartEndE-ValueType
coiled coil region 2 369 N/A INTRINSIC
coiled coil region 423 507 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 T G 7: 44,791,493 (GRCm39) N71H possibly damaging Het
Alg5 T A 3: 54,654,019 (GRCm39) S252T probably benign Het
Arhgap21 T C 2: 20,885,497 (GRCm39) N560S probably benign Het
Ccdc96 A G 5: 36,642,981 (GRCm39) D329G possibly damaging Het
Cpox G C 16: 58,499,088 (GRCm39) V434L probably damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Ddx6 A G 9: 44,518,753 (GRCm39) R22G possibly damaging Het
Dgcr8 A T 16: 18,077,843 (GRCm39) Y597N probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock5 T C 14: 68,051,456 (GRCm39) D671G possibly damaging Het
Dock6 A G 9: 21,720,885 (GRCm39) S1707P probably damaging Het
Dop1b A G 16: 93,570,801 (GRCm39) probably null Het
Faim A G 9: 98,874,782 (GRCm39) R110G probably damaging Het
Grm4 A G 17: 27,653,772 (GRCm39) V726A probably benign Het
Hps1 T C 19: 42,758,041 (GRCm39) probably null Het
Lefty1 T C 1: 180,765,263 (GRCm39) M277T probably benign Het
Mmp9 A G 2: 164,794,414 (GRCm39) M469V probably benign Het
Mroh4 A T 15: 74,483,510 (GRCm39) I609N probably benign Het
Myl6b C T 10: 128,333,216 (GRCm39) probably benign Het
Nt5m A G 11: 59,766,733 (GRCm39) D208G probably damaging Het
Pard3b G T 1: 62,049,565 (GRCm39) V108L probably benign Het
Pbp2 A G 6: 135,286,922 (GRCm39) S142P probably benign Het
Pbrm1 T A 14: 30,754,476 (GRCm39) D165E probably benign Het
Pde4b A G 4: 102,459,896 (GRCm39) K577R probably benign Het
Phf21b A G 15: 84,671,466 (GRCm39) M476T probably benign Het
Prr14l T C 5: 33,001,482 (GRCm39) probably benign Het
Ralgapa2 A G 2: 146,289,356 (GRCm39) V282A probably benign Het
Rif1 A G 2: 51,979,607 (GRCm39) I430V probably damaging Het
Slc25a12 A G 2: 71,105,666 (GRCm39) S623P probably benign Het
Smc1b A T 15: 84,970,352 (GRCm39) I967N probably damaging Het
Snx13 A G 12: 35,156,819 (GRCm39) probably null Het
Spata2 A T 2: 167,326,079 (GRCm39) S247T probably damaging Het
Stpg2 T A 3: 138,948,899 (GRCm39) Y232N probably benign Het
Tor3a G T 1: 156,501,137 (GRCm39) S100R possibly damaging Het
Trappc8 A G 18: 20,998,165 (GRCm39) F385S probably damaging Het
Uggt2 T A 14: 119,328,121 (GRCm39) T134S probably benign Het
Vmn1r175 C T 7: 23,508,556 (GRCm39) V24I possibly damaging Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zfp157 T G 5: 138,455,443 (GRCm39) V547G possibly damaging Het
Zfp442 A T 2: 150,250,079 (GRCm39) C551S probably damaging Het
Other mutations in Cep128
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Cep128 APN 12 91,200,965 (GRCm39) missense probably benign 0.17
IGL00800:Cep128 APN 12 91,222,438 (GRCm39) missense possibly damaging 0.83
IGL01738:Cep128 APN 12 91,197,616 (GRCm39) missense probably damaging 1.00
IGL01844:Cep128 APN 12 90,975,628 (GRCm39) missense probably benign 0.14
IGL01918:Cep128 APN 12 91,200,984 (GRCm39) missense probably damaging 0.99
IGL02043:Cep128 APN 12 91,233,504 (GRCm39) splice site probably benign
IGL02405:Cep128 APN 12 91,233,760 (GRCm39) missense probably benign 0.04
IGL02616:Cep128 APN 12 91,263,032 (GRCm39) missense probably benign 0.03
PIT4260001:Cep128 UTSW 12 91,265,808 (GRCm39) missense probably benign 0.00
R0416:Cep128 UTSW 12 91,197,641 (GRCm39) splice site probably benign
R0442:Cep128 UTSW 12 91,233,545 (GRCm39) missense probably damaging 1.00
R0608:Cep128 UTSW 12 90,966,309 (GRCm39) utr 3 prime probably benign
R1108:Cep128 UTSW 12 91,305,883 (GRCm39) missense probably damaging 1.00
R1178:Cep128 UTSW 12 91,226,929 (GRCm39) missense probably damaging 1.00
R1183:Cep128 UTSW 12 91,292,372 (GRCm39) missense possibly damaging 0.84
R1394:Cep128 UTSW 12 91,233,754 (GRCm39) missense probably benign 0.07
R1395:Cep128 UTSW 12 91,233,754 (GRCm39) missense probably benign 0.07
R1498:Cep128 UTSW 12 91,333,191 (GRCm39) missense probably benign
R1541:Cep128 UTSW 12 91,315,555 (GRCm39) missense probably damaging 1.00
R1639:Cep128 UTSW 12 91,333,142 (GRCm39) missense probably damaging 1.00
R1643:Cep128 UTSW 12 91,292,306 (GRCm39) missense probably damaging 1.00
R1682:Cep128 UTSW 12 91,197,596 (GRCm39) missense probably damaging 0.99
R1739:Cep128 UTSW 12 90,989,265 (GRCm39) splice site probably null
R1758:Cep128 UTSW 12 91,314,352 (GRCm39) missense probably benign 0.02
R1845:Cep128 UTSW 12 91,256,372 (GRCm39) missense probably benign 0.01
R1987:Cep128 UTSW 12 91,197,603 (GRCm39) missense probably benign 0.01
R2017:Cep128 UTSW 12 91,333,238 (GRCm39) missense probably damaging 0.98
R2237:Cep128 UTSW 12 91,314,341 (GRCm39) missense probably benign 0.01
R2239:Cep128 UTSW 12 91,314,341 (GRCm39) missense probably benign 0.01
R3103:Cep128 UTSW 12 90,986,118 (GRCm39) missense probably damaging 0.99
R4552:Cep128 UTSW 12 91,260,936 (GRCm39) missense probably damaging 0.98
R4664:Cep128 UTSW 12 91,263,027 (GRCm39) missense probably damaging 1.00
R4774:Cep128 UTSW 12 91,200,969 (GRCm39) missense probably damaging 0.99
R4838:Cep128 UTSW 12 90,966,319 (GRCm39) utr 3 prime probably benign
R4858:Cep128 UTSW 12 91,226,936 (GRCm39) missense probably benign 0.04
R4924:Cep128 UTSW 12 90,989,174 (GRCm39) splice site silent
R5002:Cep128 UTSW 12 91,222,497 (GRCm39) splice site probably null
R5282:Cep128 UTSW 12 91,305,893 (GRCm39) missense probably damaging 1.00
R5386:Cep128 UTSW 12 90,966,345 (GRCm39) missense probably benign 0.03
R5643:Cep128 UTSW 12 91,315,625 (GRCm39) missense probably damaging 1.00
R5644:Cep128 UTSW 12 91,315,625 (GRCm39) missense probably damaging 1.00
R5668:Cep128 UTSW 12 90,966,410 (GRCm39) missense probably benign 0.01
R6057:Cep128 UTSW 12 91,262,998 (GRCm39) missense possibly damaging 0.92
R6831:Cep128 UTSW 12 91,233,748 (GRCm39) missense probably damaging 0.99
R6852:Cep128 UTSW 12 91,333,116 (GRCm39) critical splice donor site probably null
R7078:Cep128 UTSW 12 91,200,878 (GRCm39) missense probably damaging 0.99
R7144:Cep128 UTSW 12 91,260,933 (GRCm39) missense probably damaging 0.98
R7487:Cep128 UTSW 12 90,966,404 (GRCm39) missense probably benign 0.05
R7582:Cep128 UTSW 12 91,314,340 (GRCm39) missense probably damaging 0.96
R7713:Cep128 UTSW 12 90,986,096 (GRCm39) missense probably benign 0.07
R8245:Cep128 UTSW 12 90,966,419 (GRCm39) missense probably benign 0.03
R8893:Cep128 UTSW 12 91,263,006 (GRCm39) missense probably damaging 1.00
R8913:Cep128 UTSW 12 91,331,221 (GRCm39) critical splice acceptor site probably null
R8935:Cep128 UTSW 12 91,233,770 (GRCm39) missense probably damaging 0.99
R8991:Cep128 UTSW 12 91,200,987 (GRCm39) missense probably damaging 0.97
R9168:Cep128 UTSW 12 91,233,794 (GRCm39) missense probably damaging 1.00
Z1177:Cep128 UTSW 12 91,331,145 (GRCm39) missense probably damaging 1.00
Z1177:Cep128 UTSW 12 91,256,377 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AATAGTTATCTCTGATAGTCCCAGC -3'
(R):5'- CCCTTAGGCTGTTATGATCTGGAC -3'

Sequencing Primer
(F):5'- TCTCTGATAGTCCCAGCAATGAAG -3'
(R):5'- ACTAAACTGCAGTGGCTG -3'
Posted On 2016-10-06