Incidental Mutation 'IGL01918:Cep128'
ID180027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep128
Ensembl Gene ENSMUSG00000061533
Gene Namecentrosomal protein 128
Synonyms4930534B04Rik, 5430424K18Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.251) question?
Stock #IGL01918
Quality Score
Status
Chromosome12
Chromosomal Location90998492-91384409 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91234210 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 342 (I342K)
Ref Sequence ENSEMBL: ENSMUSP00000122627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140674] [ENSMUST00000141429] [ENSMUST00000143415]
Predicted Effect possibly damaging
Transcript: ENSMUST00000140674
AA Change: I25K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119394
Gene: ENSMUSG00000061533
AA Change: I25K

DomainStartEndE-ValueType
low complexity region 112 119 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141429
AA Change: I795K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: I795K

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: I342K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533
AA Change: I342K

DomainStartEndE-ValueType
coiled coil region 2 369 N/A INTRINSIC
coiled coil region 423 507 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,447,674 Q71R probably benign Het
Ankfy1 T C 11: 72,740,455 V409A probably benign Het
Ap4m1 A G 5: 138,172,844 T69A probably damaging Het
B3gat2 A T 1: 23,845,128 K306* probably null Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Calr A G 8: 84,842,850 probably benign Het
Ccdc54 C T 16: 50,590,852 W17* probably null Het
Cd68 T C 11: 69,665,101 S204G possibly damaging Het
Ces1d T A 8: 93,178,075 I346L probably benign Het
Cfap70 T A 14: 20,425,399 D418V possibly damaging Het
Cntnap4 A T 8: 112,752,234 R197S possibly damaging Het
Ddx31 G T 2: 28,874,164 V461F probably damaging Het
Eps15l1 T C 8: 72,367,912 M714V possibly damaging Het
Fshb A T 2: 107,058,927 F11I probably benign Het
Fsip2 T G 2: 82,992,138 C6072G possibly damaging Het
Fuz T G 7: 44,896,959 L93R probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm8991 G A 5: 16,730,680 noncoding transcript Het
Itga11 C A 9: 62,772,996 N973K probably benign Het
Lca5 T A 9: 83,423,148 T202S probably damaging Het
Lrp1 G A 10: 127,554,589 L3053F probably damaging Het
Mapk13 T C 17: 28,775,330 Y129H probably damaging Het
Mast1 T A 8: 84,921,209 H512L probably damaging Het
Mlip T C 9: 77,173,999 N213S probably damaging Het
Mtcl1 C T 17: 66,368,268 G734R possibly damaging Het
Myo9a T A 9: 59,779,702 I30N probably damaging Het
Olfr142 A G 2: 90,252,331 I219T probably damaging Het
Pctp T C 11: 89,987,336 D124G probably benign Het
Phc3 A G 3: 30,914,416 probably null Het
Plat T A 8: 22,780,437 F457I possibly damaging Het
Snw1 T C 12: 87,455,668 K319E probably benign Het
Sox8 A G 17: 25,570,137 L129P probably damaging Het
Stc1 A T 14: 69,031,654 probably benign Het
Szt2 A G 4: 118,384,253 probably benign Het
Tmem81 T A 1: 132,507,960 V168D probably damaging Het
Ttc41 C A 10: 86,713,190 Q83K probably damaging Het
Ugt1a5 T C 1: 88,166,545 V165A probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b A G 7: 80,287,812 probably null Het
Zap70 T C 1: 36,778,787 Y290H possibly damaging 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
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
R1178:Cep128 UTSW 12 91260155 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
Posted On2014-05-07