Incidental Mutation 'R8935:Cep128'
ID 680591
Institutional Source Beutler Lab
Gene Symbol Cep128
Ensembl Gene ENSMUSG00000061533
Gene Name centrosomal protein 128
Synonyms 5430424K18Rik, 4930534B04Rik
MMRRC Submission 068778-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R8935 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 90965266-91351183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91233770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 433 (E433K)
Ref Sequence ENSEMBL: ENSMUSP00000115679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000141429] [ENSMUST00000143415]
AlphaFold Q8BI22
Predicted Effect probably damaging
Transcript: ENSMUST00000141429
AA Change: E433K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: E433K

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 probably benign
Transcript: ENSMUST00000143415
SMART Domains Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533

DomainStartEndE-ValueType
coiled coil region 2 369 N/A INTRINSIC
coiled coil region 423 507 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik G T 8: 117,698,181 (GRCm39) Q309K probably benign Het
Adam20 T C 8: 41,247,989 (GRCm39) V33A probably benign Het
Ank T C 15: 27,591,112 (GRCm39) V417A probably damaging Het
Arhgef17 C T 7: 100,527,324 (GRCm39) V779I probably benign Het
Atp6v0a1 T A 11: 100,929,519 (GRCm39) F440I possibly damaging Het
Brca2 T G 5: 150,492,446 (GRCm39) S3154A possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Cep192 C T 18: 67,995,543 (GRCm39) T970I probably damaging Het
Chd2 T C 7: 73,153,210 (GRCm39) T249A possibly damaging Het
Cpd C T 11: 76,731,295 (GRCm39) G304S probably damaging Het
Cpsf7 T A 19: 10,509,345 (GRCm39) Y85* probably null Het
Csf3r T A 4: 125,937,200 (GRCm39) S695T probably benign Het
Cyp20a1 A G 1: 60,410,473 (GRCm39) Q258R probably damaging Het
Ddi2 A T 4: 141,412,600 (GRCm39) L104Q probably damaging Het
Dpp8 T C 9: 64,983,066 (GRCm39) S733P possibly damaging Het
Efhd1 A G 1: 87,217,219 (GRCm39) D112G probably damaging Het
Elapor2 C T 5: 9,491,764 (GRCm39) T708M probably damaging Het
Fgfr3 A C 5: 33,892,810 (GRCm39) D752A probably damaging Het
Fmod C A 1: 133,968,586 (GRCm39) H209N probably benign Het
Gde1 C T 7: 118,297,914 (GRCm39) E101K possibly damaging Het
Gldc C T 19: 30,109,093 (GRCm39) R615Q probably benign Het
Gli2 T C 1: 118,764,122 (GRCm39) E1343G probably damaging Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Gm4847 A G 1: 166,469,789 (GRCm39) Y95H probably damaging Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Gtpbp3 A G 8: 71,945,181 (GRCm39) probably null Het
Haspin A G 11: 73,026,890 (GRCm39) F733S probably damaging Het
Hgh1 C G 15: 76,254,592 (GRCm39) R323G probably damaging Het
Idh1 A T 1: 65,204,378 (GRCm39) I244N probably damaging Het
Idh2 T C 7: 79,764,946 (GRCm39) T27A probably benign Het
Igkv4-69 T C 6: 69,260,912 (GRCm39) T72A possibly damaging Het
Lmntd1 A G 6: 145,489,229 (GRCm39) Y11H probably benign Het
Myt1l T C 12: 29,877,243 (GRCm39) M298T unknown Het
Neb T C 2: 52,141,780 (GRCm39) D3009G probably damaging Het
Nfya A T 17: 48,700,294 (GRCm39) probably benign Het
Nsun2 A G 13: 69,767,586 (GRCm39) D180G probably damaging Het
Or10ag60 A G 2: 87,438,421 (GRCm39) T230A possibly damaging Het
Or4k50-ps1 A T 2: 111,522,244 (GRCm39) Q127L unknown Het
Osbpl6 T C 2: 76,379,800 (GRCm39) V130A possibly damaging Het
Prss44 T A 9: 110,645,527 (GRCm39) I94N probably damaging Het
Rbm6 C T 9: 107,677,945 (GRCm39) V15I probably benign Het
Rdh19 C T 10: 127,685,929 (GRCm39) L14F possibly damaging Het
Rtkn T C 6: 83,115,196 (GRCm39) L14P probably damaging Het
Ryr3 A T 2: 112,508,402 (GRCm39) N3405K probably benign Het
Scp2 T C 4: 107,950,072 (GRCm39) E179G probably damaging Het
Sema3e A T 5: 14,282,127 (GRCm39) K421I probably damaging Het
Sorcs2 C T 5: 36,193,202 (GRCm39) V755M possibly damaging Het
Spef2 T C 15: 9,607,436 (GRCm39) I1328V probably damaging Het
Speg A T 1: 75,399,250 (GRCm39) K2232N probably benign Het
St7l A G 3: 104,778,204 (GRCm39) I114V probably damaging Het
Stkld1 C T 2: 26,833,941 (GRCm39) Q143* probably null Het
Stox2 T C 8: 47,645,895 (GRCm39) T586A possibly damaging Het
Supt20 A G 3: 54,634,988 (GRCm39) probably null Het
Tectb G T 19: 55,183,132 (GRCm39) V338L probably benign Het
Tiam1 T C 16: 89,681,821 (GRCm39) N386D probably damaging Het
Trps1 G A 15: 50,752,344 (GRCm39) Q2* probably null Het
Usp36 C T 11: 118,167,657 (GRCm39) probably null Het
Vmn1r198 C T 13: 22,539,092 (GRCm39) Q104* probably null Het
Vmn1r38 T C 6: 66,753,979 (GRCm39) T46A probably benign Het
Vmn2r110 A G 17: 20,803,957 (GRCm39) V206A probably benign Het
Vmn2r62 T A 7: 42,437,791 (GRCm39) D231V probably benign Het
Zfp143 T C 7: 109,669,736 (GRCm39) L55P 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
R5476:Cep128 UTSW 12 91,180,392 (GRCm39) missense probably damaging 0.96
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
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'- CAAGGGTTTCAGCTTGTTTCTC -3'
(R):5'- TCTCCGTGACAGTTCAGTGTC -3'

Sequencing Primer
(F):5'- TTCCACTGCCGGATGGACTC -3'
(R):5'- ACAGTTCAGTGTCTTAGTTTGCATG -3'
Posted On 2021-08-31