Incidental Mutation 'R0944:Ccdc81'
ID 82009
Institutional Source Beutler Lab
Gene Symbol Ccdc81
Ensembl Gene ENSMUSG00000039391
Gene Name coiled-coil domain containing 81
Synonyms 4921513D09Rik
MMRRC Submission 039083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R0944 (G1)
Quality Score 213
Status Validated
Chromosome 7
Chromosomal Location 89515356-89552837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89515777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 634 (N634S)
Ref Sequence ENSEMBL: ENSMUSP00000044087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041195] [ENSMUST00000131966]
AlphaFold Q9D5W4
Predicted Effect probably damaging
Transcript: ENSMUST00000041195
AA Change: N634S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: N634S

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
Meta Mutation Damage Score 0.3099 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.3%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik G A 12: 107,455,268 (GRCm39) R118K unknown Het
Abcc6 T A 7: 45,664,929 (GRCm39) I301F possibly damaging Het
Akap9 C A 5: 4,114,742 (GRCm39) probably null Het
Alg6 A G 4: 99,650,297 (GRCm39) I506V probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Camk1 A G 6: 113,315,352 (GRCm39) Y105H probably damaging Het
Clcn1 C A 6: 42,290,075 (GRCm39) Q837K probably benign Het
Clec16a A G 16: 10,506,510 (GRCm39) probably benign Het
Col22a1 T C 15: 71,753,511 (GRCm39) I130V probably benign Het
Coro2b T C 9: 62,335,263 (GRCm39) S308G probably benign Het
Cpxm1 A G 2: 130,239,423 (GRCm39) W2R probably damaging Het
Csmd3 T C 15: 47,475,227 (GRCm39) N3364S probably damaging Het
Dgkq A G 5: 108,804,331 (GRCm39) V131A probably damaging Het
Dnai1 A G 4: 41,629,997 (GRCm39) S469G probably benign Het
Efcab3 T G 11: 104,601,556 (GRCm39) probably null Het
Eml4 G A 17: 83,785,489 (GRCm39) E885K probably benign Het
Etfa A T 9: 55,396,122 (GRCm39) I148N probably damaging Het
Gpbar1 A G 1: 74,318,681 (GRCm39) D308G probably benign Het
Gprin3 T C 6: 59,330,900 (GRCm39) E469G possibly damaging Het
Igkv1-115 T C 6: 68,138,667 (GRCm39) V90A probably damaging Het
Ints2 A G 11: 86,135,289 (GRCm39) V375A possibly damaging Het
Mindy3 T C 2: 12,400,993 (GRCm39) M242V possibly damaging Het
Or11m3 A G 15: 98,395,565 (GRCm39) I71V probably benign Het
Or1n1b T C 2: 36,780,698 (GRCm39) H54R probably damaging Het
Or5t9 A C 2: 86,659,281 (GRCm39) I62L probably benign Het
P3h1 G A 4: 119,095,956 (GRCm39) E355K probably benign Het
Paxbp1 T C 16: 90,820,315 (GRCm39) T703A probably benign Het
Pcdh15 A T 10: 74,046,302 (GRCm39) Y193F probably damaging Het
Pdxdc1 A G 16: 13,656,233 (GRCm39) V613A probably damaging Het
Plekha5 T C 6: 140,515,922 (GRCm39) probably benign Het
Pmel A T 10: 128,551,126 (GRCm39) Q123L possibly damaging Het
Prl6a1 T C 13: 27,502,149 (GRCm39) probably benign Het
Rcan1 T C 16: 92,190,379 (GRCm39) T187A probably damaging Het
Rp1l1 A G 14: 64,269,681 (GRCm39) S1756G probably benign Het
Runx2 A T 17: 44,919,123 (GRCm39) M405K probably damaging Het
Serinc5 T C 13: 92,797,613 (GRCm39) Y39H probably damaging Het
Sgsm1 G A 5: 113,413,740 (GRCm39) T676I probably benign Het
Slc6a15 G C 10: 103,245,657 (GRCm39) V547L probably benign Het
Slk T C 19: 47,597,432 (GRCm39) I80T probably damaging Het
Spice1 A G 16: 44,205,124 (GRCm39) N810S probably benign Het
Spred2 A G 11: 19,951,104 (GRCm39) probably benign Het
Tbc1d4 C G 14: 101,716,656 (GRCm39) probably benign Het
Tdrd7 G A 4: 46,029,762 (GRCm39) V1032M probably benign Het
Tlr11 A G 14: 50,599,793 (GRCm39) N593S probably benign Het
Trpa1 T C 1: 14,982,585 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp25 T C 16: 76,878,335 (GRCm39) probably benign Het
Vmn2r97 T A 17: 19,167,665 (GRCm39) S640T probably benign Het
Zc3h6 A G 2: 128,848,736 (GRCm39) Y321C probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign 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
IGL02396:Ccdc81 APN 7 89,530,857 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TTCGAAGTTCAGGGAATACGCAGG -3'
(R):5'- TGTTGGGGAGGTACTAGCACACAG -3'

Sequencing Primer
(F):5'- ACACGCAGGAAATAATTAGTCG -3'
(R):5'- GGTACTAGCACACAGCCTTTG -3'
Posted On 2013-11-08