Incidental Mutation 'IGL02961:Ccdc102a'
ID 365354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc102a
Ensembl Gene ENSMUSG00000063605
Gene Name coiled-coil domain containing 102A
Synonyms LOC234582
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL02961
Quality Score
Status
Chromosome 8
Chromosomal Location 95629497-95644726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95629978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 521 (I521S)
Ref Sequence ENSEMBL: ENSMUSP00000077107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077955]
AlphaFold Q3TMW1
Predicted Effect possibly damaging
Transcript: ENSMUST00000077955
AA Change: I521S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: I521S

DomainStartEndE-ValueType
low complexity region 36 67 N/A INTRINSIC
low complexity region 71 87 N/A INTRINSIC
coiled coil region 101 160 N/A INTRINSIC
Pfam:Myosin_tail_1 311 508 8e-17 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,671,731 (GRCm39) V2288A probably damaging Het
Agbl4 T A 4: 110,437,318 (GRCm39) N76K probably damaging Het
AI182371 A T 2: 34,976,124 (GRCm39) V258E possibly damaging Het
Alg1 T A 16: 5,052,861 (GRCm39) N80K probably benign Het
Ambra1 A G 2: 91,741,793 (GRCm39) M963V possibly damaging Het
Avil C A 10: 126,844,175 (GRCm39) Q245K probably benign Het
Caml A G 13: 55,779,695 (GRCm39) N256S probably benign Het
Ccm2l A G 2: 152,920,521 (GRCm39) T393A probably benign Het
Cdh16 A G 8: 105,341,837 (GRCm39) V91A probably damaging Het
Chd7 A G 4: 8,751,542 (GRCm39) D13G probably damaging Het
Chsy1 T A 7: 65,821,530 (GRCm39) D588E probably benign Het
Cilp T A 9: 65,185,891 (GRCm39) V662E possibly damaging Het
Cog8 A G 8: 107,782,885 (GRCm39) probably benign Het
Cpb2 T C 14: 75,502,823 (GRCm39) V134A probably benign Het
Ctcfl T A 2: 172,943,712 (GRCm39) H546L possibly damaging Het
Dclre1c A G 2: 3,438,070 (GRCm39) D136G probably damaging Het
Dnah2 T A 11: 69,409,240 (GRCm39) E379D probably damaging Het
Extl3 A G 14: 65,294,408 (GRCm39) Y808H possibly damaging Het
Gm7247 T A 14: 51,602,812 (GRCm39) N49K probably damaging Het
Insr T C 8: 3,308,785 (GRCm39) I84V probably benign Het
Ipo7 C T 7: 109,646,223 (GRCm39) P541S probably benign Het
Kcnc3 T C 7: 44,240,916 (GRCm39) S203P probably damaging Het
Myo5a A G 9: 75,122,402 (GRCm39) D1732G probably benign Het
Or10q3 T A 19: 11,847,695 (GRCm39) N295I probably damaging Het
Or52d1 C A 7: 103,756,357 (GRCm39) Y290* probably null Het
Or5p68 T C 7: 107,945,334 (GRCm39) I285V probably benign Het
Or5w22 A G 2: 87,363,028 (GRCm39) Y217C probably damaging Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Pde3a T A 6: 141,405,426 (GRCm39) L426* probably null Het
Pkd1 T A 17: 24,797,089 (GRCm39) D8E possibly damaging Het
Polr3a A T 14: 24,517,108 (GRCm39) Y714* probably null Het
Pramel16 T C 4: 143,675,717 (GRCm39) T370A probably damaging Het
Prb1c A T 6: 132,338,371 (GRCm39) F282L unknown Het
Rasgrf1 T C 9: 89,863,702 (GRCm39) V556A possibly damaging Het
Rev3l T C 10: 39,703,941 (GRCm39) Y1996H possibly damaging Het
Rttn T C 18: 89,071,697 (GRCm39) L1248P probably damaging Het
Slc11a1 T C 1: 74,416,332 (GRCm39) L53P probably damaging Het
Slc22a27 T C 19: 7,903,886 (GRCm39) R84G probably damaging Het
Sptbn4 A G 7: 27,097,392 (GRCm39) L1302P probably damaging Het
Srm T C 4: 148,678,586 (GRCm39) V271A possibly damaging Het
Sycp2 A G 2: 178,022,655 (GRCm39) I492T probably benign Het
Tmprss13 A G 9: 45,256,301 (GRCm39) T472A probably damaging Het
Togaram1 A G 12: 65,013,484 (GRCm39) D245G probably damaging Het
Vmn1r184 A T 7: 25,967,075 (GRCm39) I274L probably benign Het
Vmn1r21 T C 6: 57,820,974 (GRCm39) M157V probably benign Het
Wdr90 C A 17: 26,067,649 (GRCm39) E1420* probably null Het
Zfp518a A T 19: 40,903,462 (GRCm39) R1130S probably benign Het
Other mutations in Ccdc102a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Ccdc102a APN 8 95,638,266 (GRCm39) splice site probably null
IGL01921:Ccdc102a APN 8 95,640,019 (GRCm39) missense probably damaging 1.00
R0413:Ccdc102a UTSW 8 95,629,914 (GRCm39) missense probably benign 0.23
R0423:Ccdc102a UTSW 8 95,632,554 (GRCm39) splice site probably benign
R0437:Ccdc102a UTSW 8 95,640,054 (GRCm39) missense probably damaging 1.00
R1468:Ccdc102a UTSW 8 95,632,714 (GRCm39) missense probably benign 0.06
R1468:Ccdc102a UTSW 8 95,632,714 (GRCm39) missense probably benign 0.06
R1540:Ccdc102a UTSW 8 95,634,341 (GRCm39) critical splice donor site probably null
R1893:Ccdc102a UTSW 8 95,640,171 (GRCm39) missense probably damaging 1.00
R2317:Ccdc102a UTSW 8 95,634,957 (GRCm39) missense probably null 1.00
R4280:Ccdc102a UTSW 8 95,634,444 (GRCm39) nonsense probably null
R6115:Ccdc102a UTSW 8 95,629,999 (GRCm39) missense probably benign
R6331:Ccdc102a UTSW 8 95,638,144 (GRCm39) missense probably benign
R6650:Ccdc102a UTSW 8 95,639,892 (GRCm39) missense probably benign 0.23
R7019:Ccdc102a UTSW 8 95,636,431 (GRCm39) missense probably benign 0.42
R7302:Ccdc102a UTSW 8 95,640,066 (GRCm39) missense probably damaging 1.00
R7402:Ccdc102a UTSW 8 95,629,981 (GRCm39) missense probably damaging 1.00
R7949:Ccdc102a UTSW 8 95,631,913 (GRCm39) missense probably damaging 1.00
R7995:Ccdc102a UTSW 8 95,634,495 (GRCm39) missense probably damaging 0.99
R8166:Ccdc102a UTSW 8 95,639,944 (GRCm39) missense possibly damaging 0.86
R8537:Ccdc102a UTSW 8 95,632,684 (GRCm39) missense probably benign 0.00
R9179:Ccdc102a UTSW 8 95,639,748 (GRCm39) missense possibly damaging 0.79
R9297:Ccdc102a UTSW 8 95,638,120 (GRCm39) missense possibly damaging 0.78
R9599:Ccdc102a UTSW 8 95,639,901 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18