Incidental Mutation 'IGL00231:Ccdc102a'
ID 2304
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 # IGL00231
Quality Score
Status
Chromosome 8
Chromosomal Location 95629497-95644726 bp(-) (GRCm39)
Type of Mutation splice site (1927 bp from exon)
DNA Base Change (assembly) T to C at 95638266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077955] [ENSMUST00000162020]
AlphaFold Q3TMW1
Predicted Effect probably benign
Transcript: ENSMUST00000077955
AA Change: E200G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: E200G

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
Predicted Effect probably null
Transcript: ENSMUST00000162020
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,303,877 (GRCm39) T1346A probably benign Het
Cgrrf1 T C 14: 47,069,779 (GRCm39) F16S probably damaging Het
Clybl T C 14: 122,616,610 (GRCm39) probably benign Het
Cubn T C 2: 13,386,660 (GRCm39) E1535G possibly damaging Het
Dmrtc1b C A X: 101,757,233 (GRCm39) P226H probably benign Het
Dnah17 G A 11: 117,979,040 (GRCm39) A1784V possibly damaging Het
Dnajc24 A G 2: 105,832,348 (GRCm39) Y12H probably damaging Het
Drd1 T C 13: 54,207,486 (GRCm39) T236A probably benign Het
Ep400 A T 5: 110,835,707 (GRCm39) V1934D unknown Het
Flt1 A G 5: 147,517,110 (GRCm39) probably null Het
Fut8 A G 12: 77,495,262 (GRCm39) K284R probably benign Het
Hcn1 A G 13: 118,112,529 (GRCm39) E831G probably damaging Het
Inpp5j A T 11: 3,450,009 (GRCm39) probably benign Het
Insig2 A G 1: 121,233,676 (GRCm39) Y213H probably damaging Het
Kcnh4 G A 11: 100,647,821 (GRCm39) probably benign Het
Kifc2 T A 15: 76,551,662 (GRCm39) probably benign Het
Krt75 T C 15: 101,481,081 (GRCm39) E231G probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mfsd4b2 T A 10: 39,801,057 (GRCm39) probably benign Het
Micall2 T A 5: 139,703,311 (GRCm39) probably null Het
Or10ag2 A G 2: 87,248,910 (GRCm39) T173A possibly damaging Het
Or8s5 C T 15: 98,238,054 (GRCm39) S256N possibly damaging Het
Osbp2 C T 11: 3,676,561 (GRCm39) D287N possibly damaging Het
Plin1 A G 7: 79,376,408 (GRCm39) probably benign Het
Ppl T C 16: 4,907,409 (GRCm39) N962S probably benign Het
Psg25 C T 7: 18,260,106 (GRCm39) probably benign Het
Ptprt A T 2: 161,652,544 (GRCm39) D601E probably benign Het
S100a7l2 A G 3: 90,995,665 (GRCm39) M79T probably benign Het
Sbno2 C A 10: 79,900,340 (GRCm39) probably benign Het
Sntg2 T C 12: 30,326,720 (GRCm39) D147G probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Stam2 T A 2: 52,596,418 (GRCm39) I307F possibly damaging Het
Tbx21 T G 11: 96,989,749 (GRCm39) E481A probably damaging Het
Tsc2 G A 17: 24,827,081 (GRCm39) T876I probably damaging Het
Wdfy4 T C 14: 32,824,496 (GRCm39) I1308V possibly damaging Het
Wdr37 C T 13: 8,870,541 (GRCm39) V143I probably damaging Het
Wdr43 T G 17: 71,959,809 (GRCm39) Y550D probably damaging Het
Wnk4 A G 11: 101,159,574 (GRCm39) D593G possibly damaging Het
Other mutations in Ccdc102a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Ccdc102a APN 8 95,640,019 (GRCm39) missense probably damaging 1.00
IGL02961:Ccdc102a APN 8 95,629,978 (GRCm39) missense possibly damaging 0.95
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 2011-12-09