Incidental Mutation 'R6831:Cep128'
ID 537866
Institutional Source Beutler Lab
Gene Symbol Cep128
Ensembl Gene ENSMUSG00000061533
Gene Name centrosomal protein 128
Synonyms 5430424K18Rik, 4930534B04Rik
MMRRC Submission 044941-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R6831 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 90965266-91351183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91233748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 440 (D440G)
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: D440G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: D440G

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T G 10: 29,100,675 (GRCm39) D349E probably benign Het
Adam28 C T 14: 68,855,576 (GRCm39) A630T probably benign Het
Akr1cl C T 1: 65,053,831 (GRCm39) probably null Het
Alcam A G 16: 52,130,264 (GRCm39) Y29H probably benign Het
Alg3 A T 16: 20,427,497 (GRCm39) S25T probably damaging Het
Amdhd1 T G 10: 93,363,118 (GRCm39) L323F probably damaging Het
Apcdd1 C A 18: 63,083,197 (GRCm39) Y342* probably null Het
Aqp9 T A 9: 71,069,702 (GRCm39) probably benign Het
Arhgef5 A G 6: 43,257,933 (GRCm39) T1326A probably damaging Het
Cacna1a T C 8: 85,297,860 (GRCm39) V1238A probably damaging Het
Dnah5 G C 15: 28,411,661 (GRCm39) G3677R possibly damaging Het
Dst T A 1: 34,229,765 (GRCm39) C2631S probably benign Het
E330034G19Rik T C 14: 24,346,163 (GRCm39) S25P probably benign Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fat3 C A 9: 16,287,847 (GRCm39) V559L probably damaging Het
Fra10ac1 A T 19: 38,195,737 (GRCm39) I162K probably benign Het
Glrx3 C T 7: 137,060,951 (GRCm39) T195M possibly damaging Het
Gm9949 T A 18: 62,313,616 (GRCm39) probably benign Het
Hbs1l T C 10: 21,217,767 (GRCm39) S228P probably benign Het
Hmcn1 G A 1: 150,646,044 (GRCm39) T718I probably benign Het
Igf1r T C 7: 67,857,067 (GRCm39) S1010P possibly damaging Het
Inpp5d T A 1: 87,629,198 (GRCm39) Y394* probably null Het
Itpr2 G A 6: 146,013,927 (GRCm39) T2623M probably damaging Het
Kif21b T A 1: 136,072,496 (GRCm39) C67* probably null Het
Lama1 T A 17: 68,063,749 (GRCm39) C758S possibly damaging Het
Mdga1 T A 17: 30,106,490 (GRCm39) K274* probably null Het
Neu2 G A 1: 87,524,455 (GRCm39) G147R probably damaging Het
Nkx1-1 A T 5: 33,591,147 (GRCm39) S58R unknown Het
Or2ag16 A T 7: 106,351,778 (GRCm39) N272K probably damaging Het
Or52e4 A G 7: 104,706,086 (GRCm39) D211G possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pacs1 T A 19: 5,210,823 (GRCm39) I151F probably damaging Het
Pamr1 C T 2: 102,445,276 (GRCm39) R270C probably damaging Het
Pclo C T 5: 14,838,443 (GRCm39) Q1417* probably null Het
Pkm G C 9: 59,582,398 (GRCm39) M409I probably benign Het
Plbd2 T A 5: 120,631,131 (GRCm39) K215N probably benign Het
Polk T C 13: 96,631,999 (GRCm39) K245E possibly damaging Het
Pramel17 T A 4: 101,694,094 (GRCm39) Q263L probably benign Het
Prl T G 13: 27,243,530 (GRCm39) I65S probably benign Het
Proser3 T C 7: 30,239,781 (GRCm39) H441R probably benign Het
Psmb3 A G 11: 97,597,728 (GRCm39) K98R probably benign Het
Ptpn20 T C 14: 33,354,882 (GRCm39) V319A probably damaging Het
Ptprj A T 2: 90,290,991 (GRCm39) Y397N probably damaging Het
Rp1 T C 1: 4,420,087 (GRCm39) probably null Het
Sgsm1 T A 5: 113,428,246 (GRCm39) Y314F probably damaging Het
Sh3pxd2a G A 19: 47,271,532 (GRCm39) R244C probably damaging Het
Sspo G A 6: 48,461,767 (GRCm39) V3466M possibly damaging Het
Syne2 T A 12: 76,013,568 (GRCm39) F2921I probably benign Het
Trank1 T A 9: 111,206,967 (GRCm39) M1700K probably benign Het
Trmt112 T A 19: 6,887,563 (GRCm39) L4H probably damaging Het
Trmu A G 15: 85,779,207 (GRCm39) T285A probably benign Het
Ttn A G 2: 76,601,846 (GRCm39) probably null Het
Vmn2r-ps158 G C 7: 42,673,004 (GRCm39) A143P probably damaging Het
Zc3hav1 A T 6: 38,309,103 (GRCm39) M573K probably benign Het
Zcchc8 T C 5: 123,838,972 (GRCm39) E522G probably damaging Het
Zfp354a T C 11: 50,961,381 (GRCm39) S529P probably damaging Het
Zfp735 G A 11: 73,601,434 (GRCm39) G126D 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
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'- AAGGGTTTCAGCTTGTTTCTCC -3'
(R):5'- CTCCGTGACAGTTCAGTGTC -3'

Sequencing Primer
(F):5'- ATTGACCGTTCCAACTTCTTATG -3'
(R):5'- ACAGTTCAGTGTCTTAGTTTGCATG -3'
Posted On 2018-10-18