Incidental Mutation 'IGL02396:Ccdc81'
ID 294345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc81
Ensembl Gene ENSMUSG00000039391
Gene Name coiled-coil domain containing 81
Synonyms 4921513D09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL02396
Quality Score
Status
Chromosome 7
Chromosomal Location 89515356-89552837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 89530857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 362 (I362L)
Ref Sequence ENSEMBL: ENSMUSP00000044087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041195] [ENSMUST00000131966]
AlphaFold Q9D5W4
Predicted Effect probably benign
Transcript: ENSMUST00000041195
AA Change: I362L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: I362L

DomainStartEndE-ValueType
Pfam:DUF4496 29 165 2.7e-47 PFAM
low complexity region 224 233 N/A INTRINSIC
low complexity region 344 355 N/A INTRINSIC
coiled coil region 434 468 N/A INTRINSIC
low complexity region 623 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131966
SMART Domains Protein: ENSMUSP00000117788
Gene: ENSMUSG00000039391

DomainStartEndE-ValueType
Pfam:DUF4496 28 165 2e-41 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,882,256 (GRCm39) probably benign Het
Bhmt1b A G 18: 87,774,780 (GRCm39) E101G possibly damaging Het
Bmp3 C A 5: 99,020,578 (GRCm39) Q334K possibly damaging Het
Bnc2 G T 4: 84,194,246 (GRCm39) S1026R probably benign Het
Bsn C T 9: 107,993,245 (GRCm39) G836S possibly damaging Het
Cand2 A G 6: 115,768,149 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Ccdc38 A G 10: 93,409,994 (GRCm39) N271S possibly damaging Het
Cdhr3 T A 12: 33,095,195 (GRCm39) I625F possibly damaging Het
Col12a1 T A 9: 79,569,865 (GRCm39) R1568S probably benign Het
Cpeb4 T A 11: 31,875,441 (GRCm39) S547T probably benign Het
Dennd4c T A 4: 86,743,237 (GRCm39) N1075K probably damaging Het
Esrra C A 19: 6,889,373 (GRCm39) V339L probably benign Het
Ghr A T 15: 3,487,480 (GRCm39) M1K probably null Het
Gm4987 T A X: 45,544,991 (GRCm39) noncoding transcript Het
Golga2 G T 2: 32,188,656 (GRCm39) probably benign Het
Gys1 T A 7: 45,089,012 (GRCm39) I137N probably damaging Het
Hs3st5 A T 10: 36,704,699 (GRCm39) M1L probably benign Het
Hsd3b5 T A 3: 98,529,343 (GRCm39) T96S probably benign Het
Ighv6-3 T C 12: 114,355,356 (GRCm39) D111G probably damaging Het
Immp1l T A 2: 105,767,351 (GRCm39) I70N probably damaging Het
Ints4 G A 7: 97,187,107 (GRCm39) V866I possibly damaging Het
Large2 G T 2: 92,196,668 (GRCm39) Y529* probably null Het
Maf1 C A 15: 76,237,457 (GRCm39) Y166* probably null Het
Manba T A 3: 135,250,525 (GRCm39) M384K probably damaging Het
Mapk4 C A 18: 74,067,068 (GRCm39) probably null Het
Mc5r T C 18: 68,472,537 (GRCm39) S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 (GRCm39) N1404K probably damaging Het
Milr1 C A 11: 106,656,065 (GRCm39) Y212* probably null Het
Ncor2 A G 5: 125,114,978 (GRCm39) S1115P probably damaging Het
Or10ag57 A T 2: 87,218,049 (GRCm39) probably benign Het
Or4f61 C A 2: 111,922,812 (GRCm39) C78F probably benign Het
Osbpl7 T G 11: 96,946,377 (GRCm39) L158R probably damaging Het
Psmd4 A T 3: 94,943,221 (GRCm39) L61Q probably damaging Het
Rassf9 A T 10: 102,381,554 (GRCm39) N310I possibly damaging Het
Rpl21-ps6 A G 17: 56,222,400 (GRCm39) noncoding transcript Het
Slc31a2 T C 4: 62,215,310 (GRCm39) I119T probably damaging Het
Srgap2 C A 1: 131,220,413 (GRCm39) C187F probably damaging Het
Tekt5 C A 16: 10,196,931 (GRCm39) A307S probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Ttn A G 2: 76,775,432 (GRCm39) V1916A unknown Het
Wee1 T G 7: 109,741,300 (GRCm39) V641G probably damaging Het
Zfand6 G A 7: 84,267,111 (GRCm39) P157L probably damaging Het
Other mutations in Ccdc81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Ccdc81 APN 7 89,518,823 (GRCm39) splice site probably benign
IGL01948:Ccdc81 APN 7 89,525,063 (GRCm39) missense possibly damaging 0.80
IGL02177:Ccdc81 APN 7 89,524,988 (GRCm39) missense possibly damaging 0.94
IGL02420:Ccdc81 APN 7 89,524,946 (GRCm39) missense probably benign 0.16
IGL02536:Ccdc81 APN 7 89,526,788 (GRCm39) splice site probably benign
IGL03195:Ccdc81 APN 7 89,545,916 (GRCm39) missense probably benign 0.05
IGL03397:Ccdc81 APN 7 89,546,036 (GRCm39) missense probably damaging 1.00
I0000:Ccdc81 UTSW 7 89,547,259 (GRCm39) missense probably damaging 1.00
R0089:Ccdc81 UTSW 7 89,542,324 (GRCm39) missense possibly damaging 0.87
R0409:Ccdc81 UTSW 7 89,535,423 (GRCm39) missense probably benign 0.01
R0449:Ccdc81 UTSW 7 89,539,679 (GRCm39) missense probably damaging 1.00
R0490:Ccdc81 UTSW 7 89,536,970 (GRCm39) missense probably benign 0.28
R0511:Ccdc81 UTSW 7 89,542,504 (GRCm39) missense probably damaging 1.00
R0562:Ccdc81 UTSW 7 89,552,437 (GRCm39) missense probably benign 0.02
R0801:Ccdc81 UTSW 7 89,536,866 (GRCm39) splice site probably null
R0944:Ccdc81 UTSW 7 89,515,777 (GRCm39) missense probably damaging 0.99
R1006:Ccdc81 UTSW 7 89,515,769 (GRCm39) missense probably benign 0.03
R1334:Ccdc81 UTSW 7 89,515,769 (GRCm39) missense probably benign 0.03
R1526:Ccdc81 UTSW 7 89,525,081 (GRCm39) missense probably damaging 0.99
R1623:Ccdc81 UTSW 7 89,535,390 (GRCm39) missense probably benign 0.00
R1753:Ccdc81 UTSW 7 89,515,769 (GRCm39) missense probably benign 0.03
R1885:Ccdc81 UTSW 7 89,515,819 (GRCm39) missense possibly damaging 0.80
R1886:Ccdc81 UTSW 7 89,515,819 (GRCm39) missense possibly damaging 0.80
R1887:Ccdc81 UTSW 7 89,515,819 (GRCm39) missense possibly damaging 0.80
R1889:Ccdc81 UTSW 7 89,531,502 (GRCm39) nonsense probably null
R1964:Ccdc81 UTSW 7 89,535,361 (GRCm39) missense probably benign
R1997:Ccdc81 UTSW 7 89,547,271 (GRCm39) missense probably damaging 1.00
R3725:Ccdc81 UTSW 7 89,515,838 (GRCm39) missense possibly damaging 0.95
R5494:Ccdc81 UTSW 7 89,526,781 (GRCm39) missense probably damaging 1.00
R5660:Ccdc81 UTSW 7 89,542,337 (GRCm39) missense probably benign
R6275:Ccdc81 UTSW 7 89,531,519 (GRCm39) missense possibly damaging 0.59
R6434:Ccdc81 UTSW 7 89,525,352 (GRCm39) missense probably damaging 1.00
R6711:Ccdc81 UTSW 7 89,537,006 (GRCm39) missense probably damaging 0.98
R7287:Ccdc81 UTSW 7 89,542,331 (GRCm39) missense probably damaging 0.98
R7582:Ccdc81 UTSW 7 89,525,353 (GRCm39) missense probably damaging 0.99
R7914:Ccdc81 UTSW 7 89,524,988 (GRCm39) missense possibly damaging 0.94
R7976:Ccdc81 UTSW 7 89,515,723 (GRCm39) nonsense probably null
R7977:Ccdc81 UTSW 7 89,525,319 (GRCm39) missense probably damaging 1.00
R7987:Ccdc81 UTSW 7 89,525,319 (GRCm39) missense probably damaging 1.00
R7991:Ccdc81 UTSW 7 89,539,609 (GRCm39) missense probably benign 0.01
R8002:Ccdc81 UTSW 7 89,525,343 (GRCm39) missense probably benign
R8309:Ccdc81 UTSW 7 89,526,786 (GRCm39) critical splice acceptor site probably null
R9031:Ccdc81 UTSW 7 89,542,358 (GRCm39) missense probably benign 0.03
RF018:Ccdc81 UTSW 7 89,515,906 (GRCm39) splice site probably null
X0061:Ccdc81 UTSW 7 89,526,697 (GRCm39) missense probably benign 0.00
Z1177:Ccdc81 UTSW 7 89,530,865 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16