Incidental Mutation 'R1108:Cep128'
ID 98571
Institutional Source Beutler Lab
Gene Symbol Cep128
Ensembl Gene ENSMUSG00000061533
Gene Name centrosomal protein 128
Synonyms 5430424K18Rik, 4930534B04Rik
MMRRC Submission 039181-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R1108 (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 A at 91305883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 173 (E173D)
Ref Sequence ENSEMBL: ENSMUSP00000115679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000141429]
AlphaFold Q8BI22
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129111
Predicted Effect probably damaging
Transcript: ENSMUST00000141429
AA Change: E173D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: E173D

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 noncoding transcript
Transcript: ENSMUST00000145094
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,610,333 (GRCm39) T170A probably benign Het
Atrn T C 2: 130,799,834 (GRCm39) Y404H probably damaging Het
Calb2 T A 8: 110,869,760 (GRCm39) R258* probably null Het
Cndp2 A G 18: 84,693,185 (GRCm39) C192R probably damaging Het
Dtx3 T A 10: 127,027,158 (GRCm39) I339F possibly damaging Het
Esrrb G A 12: 86,552,604 (GRCm39) R182Q probably damaging Het
Fgf22 T C 10: 79,592,417 (GRCm39) I58T probably damaging Het
Flcn A G 11: 59,692,026 (GRCm39) F208L possibly damaging Het
Fras1 G A 5: 96,790,488 (GRCm39) C954Y probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kmt2a G T 9: 44,760,359 (GRCm39) L530I probably damaging Het
Man1c1 T C 4: 134,291,924 (GRCm39) E548G probably damaging Het
Myh4 T G 11: 67,146,532 (GRCm39) L1502V probably null Het
Or51f23 G A 7: 102,453,057 (GRCm39) R124H probably benign Het
Or7e174 A C 9: 20,012,121 (GRCm39) D22A probably benign Het
Pak4 A G 7: 28,259,667 (GRCm39) M510T probably damaging Het
Plk2 A G 13: 110,536,023 (GRCm39) M576V probably damaging Het
Rmc1 G A 18: 12,314,680 (GRCm39) D87N probably damaging Het
Sema6a A G 18: 47,439,498 (GRCm39) C9R probably benign Het
Spata31e2 C G 1: 26,721,547 (GRCm39) S1211T possibly damaging Het
Svs6 T C 2: 164,159,580 (GRCm39) probably null Het
Teddm1a T C 1: 153,768,066 (GRCm39) W177R probably damaging Het
Trank1 A G 9: 111,194,375 (GRCm39) R800G probably benign Het
Zfp971 C T 2: 177,675,463 (GRCm39) P354L probably damaging Het
Zik1 G A 7: 10,224,312 (GRCm39) R262C 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
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
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'- CCGGGAACCCTTACAGGAATGAAC -3'
(R):5'- TGTGATGGTCACTGGAGGACTAGC -3'

Sequencing Primer
(F):5'- CCTTACAGGAATGAACTGGTCTGG -3'
(R):5'- CCGATGGGTTCTTTAGGGAAGA -3'
Posted On 2014-01-05