Incidental Mutation 'IGL02141:Cep89'
ID 281571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep89
Ensembl Gene ENSMUSG00000023072
Gene Name centrosomal protein 89
Synonyms Ccdc123, 2610507L03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL02141
Quality Score
Status
Chromosome 7
Chromosomal Location 35096460-35138114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35120349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 377 (M377K)
Ref Sequence ENSEMBL: ENSMUSP00000078383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079414] [ENSMUST00000141704] [ENSMUST00000206230]
AlphaFold Q9CZX2
Predicted Effect probably damaging
Transcript: ENSMUST00000079414
AA Change: M377K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: M377K

DomainStartEndE-ValueType
low complexity region 27 62 N/A INTRINSIC
low complexity region 181 190 N/A INTRINSIC
coiled coil region 252 291 N/A INTRINSIC
coiled coil region 372 598 N/A INTRINSIC
coiled coil region 670 732 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141704
AA Change: M377K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: M377K

DomainStartEndE-ValueType
low complexity region 27 62 N/A INTRINSIC
low complexity region 181 190 N/A INTRINSIC
coiled coil region 252 291 N/A INTRINSIC
coiled coil region 372 598 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155137
Predicted Effect probably benign
Transcript: ENSMUST00000206230
AA Change: M106K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging Het
Other mutations in Cep89
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00784:Cep89 APN 7 35,105,132 (GRCm39) missense possibly damaging 0.92
IGL01546:Cep89 APN 7 35,120,325 (GRCm39) missense probably damaging 1.00
IGL02001:Cep89 APN 7 35,102,432 (GRCm39) splice site probably benign
IGL02468:Cep89 APN 7 35,102,577 (GRCm39) missense probably benign 0.35
IGL02507:Cep89 APN 7 35,134,990 (GRCm39) missense probably damaging 1.00
IGL02612:Cep89 APN 7 35,124,080 (GRCm39) critical splice acceptor site probably null
IGL03324:Cep89 APN 7 35,124,078 (GRCm39) intron probably benign
IGL03396:Cep89 APN 7 35,128,603 (GRCm39) missense probably benign 0.05
3-1:Cep89 UTSW 7 35,124,147 (GRCm39) missense probably damaging 0.99
FR4304:Cep89 UTSW 7 35,109,066 (GRCm39) utr 3 prime probably benign
FR4976:Cep89 UTSW 7 35,109,066 (GRCm39) utr 3 prime probably benign
K2124:Cep89 UTSW 7 35,120,397 (GRCm39) splice site probably benign
R0127:Cep89 UTSW 7 35,127,687 (GRCm39) missense possibly damaging 0.92
R0416:Cep89 UTSW 7 35,115,827 (GRCm39) unclassified probably benign
R0609:Cep89 UTSW 7 35,134,955 (GRCm39) missense probably damaging 1.00
R1442:Cep89 UTSW 7 35,117,636 (GRCm39) splice site probably benign
R1468:Cep89 UTSW 7 35,120,388 (GRCm39) splice site probably null
R1468:Cep89 UTSW 7 35,120,388 (GRCm39) splice site probably null
R1661:Cep89 UTSW 7 35,117,105 (GRCm39) missense possibly damaging 0.66
R3981:Cep89 UTSW 7 35,137,808 (GRCm39) missense probably damaging 1.00
R4414:Cep89 UTSW 7 35,115,822 (GRCm39) unclassified probably benign
R4700:Cep89 UTSW 7 35,137,862 (GRCm39) missense probably benign 0.05
R4963:Cep89 UTSW 7 35,102,577 (GRCm39) missense probably benign 0.35
R4968:Cep89 UTSW 7 35,109,055 (GRCm39) missense possibly damaging 0.90
R4972:Cep89 UTSW 7 35,131,977 (GRCm39) missense probably damaging 1.00
R5578:Cep89 UTSW 7 35,109,067 (GRCm39) unclassified probably benign
R5767:Cep89 UTSW 7 35,117,070 (GRCm39) missense probably damaging 1.00
R5809:Cep89 UTSW 7 35,117,151 (GRCm39) missense probably damaging 0.97
R5890:Cep89 UTSW 7 35,128,587 (GRCm39) missense probably damaging 0.99
R6290:Cep89 UTSW 7 35,119,688 (GRCm39) missense probably damaging 1.00
R6361:Cep89 UTSW 7 35,097,472 (GRCm39) missense probably damaging 1.00
R6627:Cep89 UTSW 7 35,127,172 (GRCm39) missense possibly damaging 0.90
R7272:Cep89 UTSW 7 35,137,888 (GRCm39) missense probably benign 0.03
R7340:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7341:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7347:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7348:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7365:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7366:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7394:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7399:Cep89 UTSW 7 35,137,803 (GRCm39) missense probably damaging 1.00
R7422:Cep89 UTSW 7 35,127,672 (GRCm39) missense probably damaging 1.00
R7792:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7793:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R7819:Cep89 UTSW 7 35,131,968 (GRCm39) missense probably benign 0.07
R7860:Cep89 UTSW 7 35,113,570 (GRCm39) missense possibly damaging 0.63
R7899:Cep89 UTSW 7 35,129,353 (GRCm39) missense probably damaging 0.97
R8336:Cep89 UTSW 7 35,127,141 (GRCm39) nonsense probably null
R8669:Cep89 UTSW 7 35,128,602 (GRCm39) missense probably benign 0.04
R8974:Cep89 UTSW 7 35,097,493 (GRCm39) missense probably damaging 0.99
R9580:Cep89 UTSW 7 35,102,538 (GRCm39) missense possibly damaging 0.63
V7732:Cep89 UTSW 7 35,102,523 (GRCm39) missense probably damaging 1.00
Z1177:Cep89 UTSW 7 35,096,506 (GRCm39) unclassified probably benign
Posted On 2015-04-16