Incidental Mutation 'IGL02528:Ccdc89'
ID 297180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc89
Ensembl Gene ENSMUSG00000044362
Gene Name coiled-coil domain containing 89
Synonyms BOIP, 1700019B01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # IGL02528
Quality Score
Status
Chromosome 7
Chromosomal Location 90075785-90077877 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90076819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 343 (Q343L)
Ref Sequence ENSEMBL: ENSMUSP00000060309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061391]
AlphaFold Q9DA73
Predicted Effect probably damaging
Transcript: ENSMUST00000061391
AA Change: Q343L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060309
Gene: ENSMUSG00000044362
AA Change: Q343L

DomainStartEndE-ValueType
coiled coil region 36 348 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T A 6: 65,930,357 (GRCm39) probably benign Het
4933416I08Rik T A X: 52,580,792 (GRCm39) N54I probably damaging Het
Abcc2 A G 19: 43,786,943 (GRCm39) D188G probably benign Het
Akap11 T C 14: 78,748,307 (GRCm39) Y1360C probably damaging Het
Bltp2 T C 11: 78,162,802 (GRCm39) V888A possibly damaging Het
C920021L13Rik A G 3: 95,794,628 (GRCm39) probably benign Het
Cep350 A T 1: 155,770,361 (GRCm39) M1843K probably damaging Het
Ces2b T C 8: 105,561,601 (GRCm39) S232P probably damaging Het
Eprs1 G T 1: 185,145,686 (GRCm39) R1165L probably damaging Het
Ercc5 A G 1: 44,206,962 (GRCm39) E625G probably benign Het
Evi5l T C 8: 4,243,172 (GRCm39) V352A probably benign Het
Ggt5 T C 10: 75,446,254 (GRCm39) probably benign Het
Gm11564 T A 11: 99,706,293 (GRCm39) R46* probably null Het
Herc2 A G 7: 55,758,641 (GRCm39) probably benign Het
Kash5 T C 7: 44,833,170 (GRCm39) probably benign Het
Kcnh8 A G 17: 53,110,556 (GRCm39) S256G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Mast4 T C 13: 102,990,331 (GRCm39) *255W probably null Het
Muc5b A G 7: 141,417,754 (GRCm39) M3567V probably benign Het
Noxa1 A G 2: 24,980,645 (GRCm39) probably benign Het
Nsd2 T C 5: 34,036,395 (GRCm39) probably benign Het
Pcna-ps2 A T 19: 9,261,331 (GRCm39) I197L probably benign Het
Pde8a A G 7: 80,942,937 (GRCm39) probably benign Het
Polr1a C A 6: 71,941,701 (GRCm39) Q1070K probably benign Het
Pum2 G T 12: 8,778,696 (GRCm39) G449* probably null Het
Rab29 T C 1: 131,797,749 (GRCm39) probably benign Het
Rpap1 T A 2: 119,605,431 (GRCm39) probably null Het
Scn7a A G 2: 66,530,519 (GRCm39) Y609H probably damaging Het
Slit3 T C 11: 35,469,801 (GRCm39) S268P probably benign Het
Stat2 C T 10: 128,126,534 (GRCm39) T753I probably benign Het
Susd6 T C 12: 80,916,945 (GRCm39) V160A probably damaging Het
Tex52 A G 6: 128,356,460 (GRCm39) E51G possibly damaging Het
Tmem102 T A 11: 69,694,532 (GRCm39) probably null Het
Ttn A G 2: 76,720,582 (GRCm39) probably benign Het
Ubtd2 T A 11: 32,449,249 (GRCm39) L32* probably null Het
Usp38 T C 8: 81,719,864 (GRCm39) Y455C probably damaging Het
Wwp2 T C 8: 108,281,099 (GRCm39) F671L probably benign Het
Xlr3a T C X: 72,138,573 (GRCm39) N29D possibly damaging Het
Zan T C 5: 137,463,403 (GRCm39) E592G possibly damaging Het
Zmat4 T A 8: 24,505,212 (GRCm39) S151T probably damaging Het
Znfx1 T C 2: 166,892,324 (GRCm39) T631A probably benign Het
Other mutations in Ccdc89
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02931:Ccdc89 APN 7 90,076,110 (GRCm39) missense probably benign 0.14
R0311:Ccdc89 UTSW 7 90,075,901 (GRCm39) missense probably damaging 0.99
R1740:Ccdc89 UTSW 7 90,075,946 (GRCm39) missense probably damaging 1.00
R3916:Ccdc89 UTSW 7 90,076,033 (GRCm39) missense probably damaging 1.00
R3917:Ccdc89 UTSW 7 90,076,033 (GRCm39) missense probably damaging 1.00
R4560:Ccdc89 UTSW 7 90,076,336 (GRCm39) missense probably damaging 1.00
R7585:Ccdc89 UTSW 7 90,076,510 (GRCm39) missense possibly damaging 0.63
R8768:Ccdc89 UTSW 7 90,075,793 (GRCm39) start codon destroyed probably null 0.81
R9529:Ccdc89 UTSW 7 90,076,573 (GRCm39) missense probably damaging 1.00
R9695:Ccdc89 UTSW 7 90,076,552 (GRCm39) missense probably benign 0.00
R9771:Ccdc89 UTSW 7 90,075,810 (GRCm39) missense probably benign
Posted On 2015-04-16