Incidental Mutation 'R1587:Ccdc30'
ID 177555
Institutional Source Beutler Lab
Gene Symbol Ccdc30
Ensembl Gene ENSMUSG00000028637
Gene Name coiled-coil domain containing 30
Synonyms 1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik
MMRRC Submission 039624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1587 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 119179665-119272718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119210373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 248 (S248T)
Ref Sequence ENSEMBL: ENSMUSP00000047534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044781] [ENSMUST00000063642] [ENSMUST00000143494]
AlphaFold Q8BVF4
Predicted Effect probably damaging
Transcript: ENSMUST00000044781
AA Change: S248T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047534
Gene: ENSMUSG00000028637
AA Change: S248T

DomainStartEndE-ValueType
low complexity region 85 99 N/A INTRINSIC
Pfam:DUF4686 103 286 1.5e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063642
AA Change: S315T

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637
AA Change: S315T

DomainStartEndE-ValueType
Pfam:DUF4686 170 547 5.1e-155 PFAM
low complexity region 555 568 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131141
Predicted Effect probably benign
Transcript: ENSMUST00000143494
SMART Domains Protein: ENSMUSP00000118202
Gene: ENSMUSG00000028637

DomainStartEndE-ValueType
Pfam:DUF4686 31 169 3.1e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154606
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,585 (GRCm39) S111T probably benign Het
Abhd2 A T 7: 79,003,758 (GRCm39) H279L probably benign Het
Ablim1 C T 19: 57,071,979 (GRCm39) M1I probably null Het
Agrn T C 4: 156,263,897 (GRCm39) Q122R probably damaging Het
Arfgef1 A T 1: 10,230,184 (GRCm39) F1218I probably damaging Het
Bud13 C T 9: 46,201,513 (GRCm39) P395S probably damaging Het
Ccdc110 G A 8: 46,394,783 (GRCm39) V225M probably benign Het
Cdh20 C A 1: 110,027,757 (GRCm39) Q501K probably damaging Het
Cwc27 T C 13: 104,929,145 (GRCm39) D266G probably benign Het
Cyp2d40 T A 15: 82,645,334 (GRCm39) probably null Het
Cyp4a32 T G 4: 115,467,731 (GRCm39) N238K probably benign Het
Ddx11 T C 17: 66,456,251 (GRCm39) L770P probably damaging Het
Dgcr8 C T 16: 18,098,155 (GRCm39) G412E probably damaging Het
Disp2 C A 2: 118,622,064 (GRCm39) A932D probably damaging Het
Dlg4 T A 11: 69,922,572 (GRCm39) N291K possibly damaging Het
Dnajc7 A G 11: 100,492,556 (GRCm39) I39T probably damaging Het
Elp1 G A 4: 56,786,666 (GRCm39) Q426* probably null Het
Eno3 T C 11: 70,552,296 (GRCm39) V316A probably damaging Het
Ep400 G A 5: 110,874,768 (GRCm39) T944I probably benign Het
Ezh2 T G 6: 47,529,424 (GRCm39) probably null Het
F7 A T 8: 13,084,783 (GRCm39) I270F possibly damaging Het
Fancc A G 13: 63,488,246 (GRCm39) F245L probably benign Het
Fzd7 G A 1: 59,522,165 (GRCm39) C16Y possibly damaging Het
Gm29394 A G 15: 57,892,008 (GRCm39) *200Q probably null Het
Ints8 A G 4: 11,245,722 (GRCm39) probably null Het
Krt36 A T 11: 99,993,128 (GRCm39) I449N probably damaging Het
Ldlr A T 9: 21,649,209 (GRCm39) H328L probably damaging Het
Limk2 T C 11: 3,303,455 (GRCm39) N101S possibly damaging Het
Lrp4 A G 2: 91,306,650 (GRCm39) N321S probably benign Het
Mafk T C 5: 139,785,900 (GRCm39) S33P probably damaging Het
Mbtps1 T C 8: 120,244,958 (GRCm39) Y831C probably damaging Het
Mfge8 T A 7: 78,784,513 (GRCm39) I344F probably damaging Het
Myo5b T C 18: 74,867,061 (GRCm39) V1430A probably benign Het
Nbas G A 12: 13,608,686 (GRCm39) R2154H probably benign Het
Nlrp6 G A 7: 140,502,959 (GRCm39) R355H probably damaging Het
Noc4l T C 5: 110,800,889 (GRCm39) T76A probably benign Het
Nrp1 T A 8: 129,202,763 (GRCm39) C583S probably damaging Het
Or2w4 C T 13: 21,796,083 (GRCm39) D19N probably benign Het
Or5d35 T A 2: 87,855,477 (GRCm39) M137K probably damaging Het
Pgm5 T A 19: 24,793,113 (GRCm39) I318F probably damaging Het
Phf1 T A 17: 27,156,466 (GRCm39) V536D probably damaging Het
Prpf4b C A 13: 35,076,133 (GRCm39) A641D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm47 A G 5: 66,182,334 (GRCm39) I433T probably benign Het
Resf1 G T 6: 149,228,018 (GRCm39) V355F probably damaging Het
S100a3 G A 3: 90,509,618 (GRCm39) E88K probably benign Het
Sesn1 A G 10: 41,687,108 (GRCm39) I31V probably benign Het
Son T A 16: 91,456,606 (GRCm39) S1784R probably damaging Het
Srbd1 G T 17: 86,292,865 (GRCm39) D901E probably damaging Het
St8sia6 C T 2: 13,677,416 (GRCm39) D134N possibly damaging Het
Synpo2 T A 3: 122,908,047 (GRCm39) D423V probably damaging Het
Vmn2r108 A G 17: 20,692,383 (GRCm39) S158P probably damaging Het
Vmn2r109 A T 17: 20,761,002 (GRCm39) V785E probably damaging Het
Zfp143 A G 7: 109,673,275 (GRCm39) D124G probably benign Het
Zfp251 A G 15: 76,754,484 (GRCm39) L54P probably damaging Het
Zfp324 G T 7: 12,704,570 (GRCm39) S253I possibly damaging Het
Zfp59 A G 7: 27,553,559 (GRCm39) E337G possibly damaging Het
Zfp663 G T 2: 165,195,437 (GRCm39) Q261K probably benign Het
Zhx3 T C 2: 160,623,613 (GRCm39) probably null Het
Other mutations in Ccdc30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Ccdc30 APN 4 119,250,776 (GRCm39) missense possibly damaging 0.93
IGL01546:Ccdc30 APN 4 119,255,385 (GRCm39) missense probably damaging 0.99
IGL01691:Ccdc30 APN 4 119,250,761 (GRCm39) missense probably damaging 0.96
IGL02178:Ccdc30 APN 4 119,206,921 (GRCm39) unclassified probably benign
IGL02341:Ccdc30 APN 4 119,213,978 (GRCm39) missense possibly damaging 0.83
IGL03063:Ccdc30 APN 4 119,206,964 (GRCm39) missense possibly damaging 0.68
IGL03394:Ccdc30 APN 4 119,216,779 (GRCm39) missense probably damaging 1.00
doubledip UTSW 4 119,181,253 (GRCm39) missense probably damaging 0.99
ladle UTSW 4 119,190,920 (GRCm39) critical splice acceptor site probably null
G1patch:Ccdc30 UTSW 4 119,188,796 (GRCm39) missense probably damaging 1.00
R1604:Ccdc30 UTSW 4 119,188,793 (GRCm39) missense probably damaging 0.99
R1842:Ccdc30 UTSW 4 119,188,324 (GRCm39) missense probably benign
R1962:Ccdc30 UTSW 4 119,196,988 (GRCm39) missense probably benign 0.00
R2157:Ccdc30 UTSW 4 119,190,921 (GRCm39) splice site probably benign
R2314:Ccdc30 UTSW 4 119,181,763 (GRCm39) nonsense probably null
R2362:Ccdc30 UTSW 4 119,181,253 (GRCm39) missense probably damaging 0.99
R3407:Ccdc30 UTSW 4 119,181,778 (GRCm39) missense possibly damaging 0.63
R3755:Ccdc30 UTSW 4 119,225,005 (GRCm39) critical splice donor site probably null
R3938:Ccdc30 UTSW 4 119,209,870 (GRCm39) missense probably benign 0.02
R4762:Ccdc30 UTSW 4 119,190,785 (GRCm39) missense probably damaging 0.98
R5014:Ccdc30 UTSW 4 119,250,824 (GRCm39) missense possibly damaging 0.96
R5635:Ccdc30 UTSW 4 119,216,871 (GRCm39) missense possibly damaging 0.66
R6282:Ccdc30 UTSW 4 119,181,214 (GRCm39) missense probably damaging 0.98
R6382:Ccdc30 UTSW 4 119,261,363 (GRCm39) missense possibly damaging 0.93
R6725:Ccdc30 UTSW 4 119,188,796 (GRCm39) missense probably damaging 1.00
R6746:Ccdc30 UTSW 4 119,213,915 (GRCm39) missense probably benign 0.03
R7230:Ccdc30 UTSW 4 119,196,979 (GRCm39) missense possibly damaging 0.89
R7576:Ccdc30 UTSW 4 119,207,063 (GRCm39) missense probably damaging 1.00
R7673:Ccdc30 UTSW 4 119,210,369 (GRCm39) missense probably damaging 1.00
R7719:Ccdc30 UTSW 4 119,190,813 (GRCm39) missense probably damaging 1.00
R7895:Ccdc30 UTSW 4 119,209,910 (GRCm39) splice site probably null
R8021:Ccdc30 UTSW 4 119,209,876 (GRCm39) missense probably benign 0.00
R8113:Ccdc30 UTSW 4 119,230,943 (GRCm39) missense probably benign 0.32
R8696:Ccdc30 UTSW 4 119,234,505 (GRCm39) missense possibly damaging 0.92
R8713:Ccdc30 UTSW 4 119,261,404 (GRCm39) missense probably damaging 0.99
R8885:Ccdc30 UTSW 4 119,181,759 (GRCm39) missense probably damaging 0.97
R8948:Ccdc30 UTSW 4 119,181,358 (GRCm39) missense probably benign
R9337:Ccdc30 UTSW 4 119,190,920 (GRCm39) critical splice acceptor site probably null
R9354:Ccdc30 UTSW 4 119,230,850 (GRCm39) missense possibly damaging 0.86
R9459:Ccdc30 UTSW 4 119,234,470 (GRCm39) missense possibly damaging 0.66
R9563:Ccdc30 UTSW 4 119,250,821 (GRCm39) missense possibly damaging 0.91
R9565:Ccdc30 UTSW 4 119,250,821 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACCTCCTGAATGTGCGGGTGATAC -3'
(R):5'- TGCTACGCTGCCAACAACATGC -3'

Sequencing Primer
(F):5'- GCTAGGCTCTAACTACCatctatc -3'
(R):5'- TGTGAAGCGTGAGAATACCTC -3'
Posted On 2014-04-24