Incidental Mutation 'R1178:Cep128'
ID100177
Institutional Source Beutler Lab
Gene Symbol Cep128
Ensembl Gene ENSMUSG00000061533
Gene Namecentrosomal protein 128
Synonyms4930534B04Rik, 5430424K18Rik
MMRRC Submission 039250-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.251) question?
Stock #R1178 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location90998492-91384409 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 91260155 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 227 (T227M)
Ref Sequence ENSEMBL: ENSMUSP00000122627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140674] [ENSMUST00000141429] [ENSMUST00000143415]
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: T680M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: T680M

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 damaging
Transcript: ENSMUST00000143415
AA Change: T227M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533
AA Change: T227M

DomainStartEndE-ValueType
coiled coil region 2 369 N/A INTRINSIC
coiled coil region 423 507 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G T 13: 81,440,037 probably benign Het
Apcdd1 A T 18: 62,937,097 Y145F probably damaging Het
Brinp1 C T 4: 68,762,553 G580E probably damaging Het
Cxcr2 A T 1: 74,158,368 D7V probably benign Het
Dync2h1 C T 9: 7,101,193 probably benign Het
Eps8 T C 6: 137,522,854 Q209R possibly damaging Het
Gabrg3 C T 7: 56,735,091 V241I probably benign Het
Gfpt2 T C 11: 49,823,309 S298P probably benign Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gm6797 T A X: 8,641,765 noncoding transcript Het
Gp1ba C T 11: 70,641,427 P673L probably damaging Het
Heatr5b A G 17: 78,813,269 L742P probably damaging Het
Hgd A G 16: 37,615,394 I115V possibly damaging Het
Hmgcll1 A T 9: 76,130,331 D169V probably damaging Het
Ifi202b A T 1: 173,972,222 I231K probably benign Het
Itpripl1 A G 2: 127,141,899 I101T probably benign Het
Kcnj9 A G 1: 172,322,963 V361A probably benign Het
Map4k5 G A 12: 69,816,378 T567M probably damaging Het
Ncapd3 A G 9: 27,041,421 D82G probably benign Het
Nupl1 A T 14: 60,244,670 probably benign Het
Olfr1155 G A 2: 87,943,146 L161F probably benign Het
Olfr150 A G 9: 39,737,346 Y177C probably damaging Het
Olfr926 A G 9: 38,877,755 E193G probably damaging Het
Pfn2 C T 3: 57,845,345 V3I probably benign Het
Pirb A T 7: 3,717,638 L287Q probably benign Het
Pkhd1 C T 1: 20,585,157 probably null Het
Plekha2 A C 8: 25,059,202 S189A probably benign Het
Prune2 T C 19: 17,123,105 V1991A probably benign Het
Psg17 T C 7: 18,814,455 T464A probably benign Het
Rab8b A G 9: 66,852,967 M125T possibly damaging Het
Rbl1 T A 2: 157,147,655 M1015L possibly damaging Het
Ryr3 T A 2: 112,964,380 Q149L probably benign Het
Scn2a C A 2: 65,686,779 probably benign Het
Sec61g A C 11: 16,504,722 probably benign Het
Smcr8 G A 11: 60,779,532 R502H probably damaging Het
Spag16 G A 1: 69,923,658 probably benign Het
Spink13 A G 18: 62,608,170 probably benign Het
Stk25 T C 1: 93,623,389 probably benign Het
Syngap1 A G 17: 26,957,805 N314D probably damaging Het
Tek T C 4: 94,804,287 C160R probably damaging Het
Tenm2 C T 11: 36,063,177 G1236R possibly damaging Het
Tll2 T G 19: 41,092,847 D712A probably damaging Het
Tmprss13 A T 9: 45,328,647 R84S unknown Het
Ttn A T 2: 76,969,703 I387N probably damaging Het
Ubr1 T A 2: 120,926,029 K706* probably null Het
Upk2 A T 9: 44,454,173 S33T probably benign Het
Usp47 T G 7: 112,109,998 M1317R possibly damaging Het
Wdr19 T C 5: 65,223,865 Y411H probably damaging Het
Zfp143 C T 7: 110,075,721 probably benign Het
Zfp473 T C 7: 44,734,594 D105G probably benign Het
Zfp474 C T 18: 52,638,742 Q156* probably null Het
Other mutations in Cep128
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Cep128 APN 12 91234191 missense probably benign 0.17
IGL00800:Cep128 APN 12 91255664 missense possibly damaging 0.83
IGL01738:Cep128 APN 12 91230842 missense probably damaging 1.00
IGL01844:Cep128 APN 12 91008854 missense probably benign 0.14
IGL01918:Cep128 APN 12 91234210 missense probably damaging 0.99
IGL02043:Cep128 APN 12 91266730 splice site probably benign
IGL02405:Cep128 APN 12 91266986 missense probably benign 0.04
IGL02616:Cep128 APN 12 91296258 missense probably benign 0.03
PIT4260001:Cep128 UTSW 12 91299034 missense probably benign 0.00
R0416:Cep128 UTSW 12 91230867 splice site probably benign
R0442:Cep128 UTSW 12 91266771 missense probably damaging 1.00
R0608:Cep128 UTSW 12 90999535 utr 3 prime probably benign
R1108:Cep128 UTSW 12 91339109 missense probably damaging 1.00
R1183:Cep128 UTSW 12 91325598 missense possibly damaging 0.84
R1394:Cep128 UTSW 12 91266980 missense probably benign 0.07
R1395:Cep128 UTSW 12 91266980 missense probably benign 0.07
R1498:Cep128 UTSW 12 91366417 missense probably benign
R1541:Cep128 UTSW 12 91348781 missense probably damaging 1.00
R1639:Cep128 UTSW 12 91366368 missense probably damaging 1.00
R1643:Cep128 UTSW 12 91325532 missense probably damaging 1.00
R1682:Cep128 UTSW 12 91230822 missense probably damaging 0.99
R1739:Cep128 UTSW 12 91022491 splice site probably null
R1758:Cep128 UTSW 12 91347578 missense probably benign 0.02
R1845:Cep128 UTSW 12 91289598 missense probably benign 0.01
R1987:Cep128 UTSW 12 91230829 missense probably benign 0.01
R2017:Cep128 UTSW 12 91366464 missense probably damaging 0.98
R2237:Cep128 UTSW 12 91347567 missense probably benign 0.01
R2239:Cep128 UTSW 12 91347567 missense probably benign 0.01
R3103:Cep128 UTSW 12 91019344 missense probably damaging 0.99
R4552:Cep128 UTSW 12 91294162 missense probably damaging 0.98
R4664:Cep128 UTSW 12 91296253 missense probably damaging 1.00
R4774:Cep128 UTSW 12 91234195 missense probably damaging 0.99
R4838:Cep128 UTSW 12 90999545 utr 3 prime probably benign
R4858:Cep128 UTSW 12 91260162 missense probably benign 0.04
R4924:Cep128 UTSW 12 91022400 splice site silent
R5002:Cep128 UTSW 12 91255723 intron probably null
R5282:Cep128 UTSW 12 91339119 missense probably damaging 1.00
R5386:Cep128 UTSW 12 90999571 missense probably benign 0.03
R5476:Cep128 UTSW 12 91213618 missense probably damaging 0.96
R5643:Cep128 UTSW 12 91348851 missense probably damaging 1.00
R5644:Cep128 UTSW 12 91348851 missense probably damaging 1.00
R5668:Cep128 UTSW 12 90999636 missense probably benign 0.01
R6057:Cep128 UTSW 12 91296224 missense possibly damaging 0.92
R6831:Cep128 UTSW 12 91266974 missense probably damaging 0.99
R6852:Cep128 UTSW 12 91366342 critical splice donor site probably null
R7078:Cep128 UTSW 12 91234104 missense probably damaging 0.99
R7144:Cep128 UTSW 12 91294159 missense probably damaging 0.98
R7487:Cep128 UTSW 12 90999630 missense probably benign 0.05
R7582:Cep128 UTSW 12 91347566 missense probably damaging 0.96
R7713:Cep128 UTSW 12 91019322 missense probably benign 0.07
Predicted Primers
Posted On2014-01-15