Incidental Mutation 'V7732:Cep89'
ID 44037
Institutional Source Beutler Lab
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 # V7732 () of strain may
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 35096460-35138114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35102523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 79 (S79G)
Ref Sequence ENSEMBL: ENSMUSP00000078383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079414] [ENSMUST00000141704] [ENSMUST00000206854]
AlphaFold Q9CZX2
Predicted Effect probably damaging
Transcript: ENSMUST00000079414
AA Change: S79G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: S79G

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 noncoding transcript
Transcript: ENSMUST00000125041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129064
Predicted Effect probably benign
Transcript: ENSMUST00000141704
AA Change: S79G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: S79G

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 probably benign
Transcript: ENSMUST00000206854
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.9%
  • 20x: 90.3%
Validation Efficiency 96% (25/26)
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 T C 16: 35,103,911 (GRCm39) F793L probably benign Het
Atmin C T 8: 117,683,218 (GRCm39) P293S probably damaging Het
Card11 G A 5: 140,862,250 (GRCm39) R1016* probably null Het
Cic T C 7: 24,991,670 (GRCm39) V2227A probably benign Het
Clcn6 A G 4: 148,098,412 (GRCm39) V534A probably damaging Het
Dpep2 T A 8: 106,715,892 (GRCm39) H124L probably damaging Het
Elfn1 G A 5: 139,957,194 (GRCm39) R66Q probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Ggh T A 4: 20,046,225 (GRCm39) F44L probably benign Het
Gpr37 T C 6: 25,669,122 (GRCm39) Y574C probably benign Het
Heatr5a C A 12: 51,952,107 (GRCm39) A1178S possibly damaging Het
Igsf9 A G 1: 172,317,960 (GRCm39) T106A probably benign Het
Itpr3 G C 17: 27,330,000 (GRCm39) probably null Het
Itpr3 G T 17: 27,329,998 (GRCm39) probably benign Het
Nlrp6 G A 7: 140,506,561 (GRCm39) probably benign Het
Rabac1 T A 7: 24,671,644 (GRCm39) Q51L probably damaging Het
Rgma A G 7: 73,067,068 (GRCm39) T108A probably damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Sarm1 T A 11: 78,378,891 (GRCm39) T385S probably benign Het
Spata17 T C 1: 186,780,677 (GRCm39) T357A possibly damaging Het
Ufl1 T C 4: 25,251,368 (GRCm39) I711V probably damaging Het
Vwa3a A G 7: 120,378,172 (GRCm39) probably benign 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
IGL02141:Cep89 APN 7 35,120,349 (GRCm39) missense probably damaging 1.00
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
Z1177:Cep89 UTSW 7 35,096,506 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TCAACAGCCACAGTGGACAAGG -3'
(R):5'- AACAATTACTGTCCCTGTCAGTGCC -3'

Sequencing Primer
(F):5'- ACAAGGTGAGCCTTGCCAG -3'
(R):5'- GTGACAGAAACCTGGTGACTCC -3'
Posted On 2013-05-31