Incidental Mutation 'R6522:Ccdc42'
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ID521394
Institutional Source Beutler Lab
Gene Symbol Ccdc42
Ensembl Gene ENSMUSG00000045915
Gene Namecoiled-coil domain containing 42
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #R6522 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location68587021-68597966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68588220 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 78 (E78G)
Ref Sequence ENSEMBL: ENSMUSP00000114381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063006] [ENSMUST00000154294]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063006
AA Change: E74G

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915
AA Change: E74G

DomainStartEndE-ValueType
Pfam:DUF4200 39 169 6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148019
Predicted Effect probably damaging
Transcript: ENSMUST00000154294
AA Change: E78G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: E78G

DomainStartEndE-ValueType
Pfam:DUF4200 44 162 5.6e-30 PFAM
coiled coil region 182 239 N/A INTRINSIC
Meta Mutation Damage Score 0.1226 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no overt behavioral deficits. Males exhibit defects in the number and location of the sperm head-tail coupling apparatus, lack flagellated sperm, and are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C A 10: 10,377,892 E1209* probably null Het
Adgrg5 G T 8: 94,942,068 R503L probably benign Het
Anks1b C T 10: 90,897,327 probably benign Het
Anxa5 A T 3: 36,465,302 F13I probably damaging Het
Bicd1 A G 6: 149,484,005 I79V probably benign Het
Bnip1 A G 17: 26,789,745 D107G probably damaging Het
Ccnk A G 12: 108,187,187 D69G probably damaging Het
Clec2i G T 6: 128,893,729 V77F probably damaging Het
Clec4g A C 8: 3,718,803 V62G probably benign Het
Col4a4 G A 1: 82,487,583 A957V unknown Het
Csnk1d A G 11: 120,971,623 F277L probably damaging Het
Dip2c G A 13: 9,575,228 probably null Het
Dpf2 T A 19: 5,905,532 K108* probably null Het
Dync1h1 G A 12: 110,616,737 D423N probably damaging Het
Fbxl13 T C 5: 21,561,556 probably null Homo
Flad1 T C 3: 89,403,183 R488G probably damaging Het
Galnt6 A C 15: 100,693,355 *623E probably null Het
Gtf2e1 T C 16: 37,511,454 T420A possibly damaging Het
Hspg2 T C 4: 137,555,275 V3442A probably damaging Het
Itpr1 A G 6: 108,388,276 D55G probably damaging Het
Kdm2a C A 19: 4,324,826 R759L possibly damaging Het
Kif19a A G 11: 114,785,779 E478G probably damaging Het
Lamb3 G A 1: 193,335,453 V881I probably benign Het
Map3k6 T C 4: 133,250,024 L894P possibly damaging Het
Mast4 A G 13: 102,761,293 probably null Het
Mst1r G A 9: 107,913,239 V684M probably benign Het
Naa15 T C 3: 51,471,514 S727P probably damaging Het
Nap1l1 T C 10: 111,494,223 L330S probably damaging Het
Nav2 A G 7: 49,597,533 T2205A probably damaging Het
Ncf2 T C 1: 152,827,463 probably null Het
Olfr1199 T C 2: 88,756,108 D189G probably damaging Het
Olfr503 G A 7: 108,544,995 V155I probably benign Het
Olfr622 T C 7: 103,639,297 Y281C probably damaging Het
Opa1 T A 16: 29,625,514 N839K probably benign Het
Pcdha7 T C 18: 36,973,942 Y7H possibly damaging Het
Pcdhb15 T C 18: 37,474,261 V182A probably benign Het
Phf10 A T 17: 14,956,007 I128N probably damaging Het
Plce1 T A 19: 38,748,521 probably null Het
Plxnb2 T C 15: 89,164,426 N626S probably benign Het
Prh1 G A 6: 132,572,033 G168R unknown Het
Prss51 A G 14: 64,097,406 T137A possibly damaging Het
Ptprcap C T 19: 4,156,184 R89C possibly damaging Het
Scfd1 A G 12: 51,431,541 K512R probably benign Het
Serpina1b A C 12: 103,735,037 probably null Het
Setbp1 T C 18: 78,857,390 T1021A probably damaging Het
Slco1b2 G A 6: 141,655,419 probably null Het
Snrnp200 C T 2: 127,221,827 T642I probably benign Het
Tenm4 A C 7: 96,843,044 I1063L possibly damaging Het
Tfb2m G A 1: 179,546,046 A29V probably benign Het
Tfeb T C 17: 47,789,702 V140A probably damaging Het
Tmem104 A T 11: 115,243,753 I372F probably damaging Het
Tmem132d G T 5: 127,783,768 H1096Q probably benign Het
Trim12c A T 7: 104,348,324 N8K probably benign Het
Tti2 A G 8: 31,153,603 I249V probably null Het
Vps8 T A 16: 21,442,379 L90I probably damaging Het
Vwf A T 6: 125,662,963 probably null Het
Wdfy4 A G 14: 33,146,944 S376P probably damaging Het
Other mutations in Ccdc42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Ccdc42 APN 11 68594621 missense probably benign 0.09
IGL01897:Ccdc42 APN 11 68594275 missense probably benign 0.00
R0153:Ccdc42 UTSW 11 68587650 missense possibly damaging 0.56
R0540:Ccdc42 UTSW 11 68597710 nonsense probably null
R0607:Ccdc42 UTSW 11 68597710 nonsense probably null
R1619:Ccdc42 UTSW 11 68594289 missense probably damaging 0.97
R1831:Ccdc42 UTSW 11 68590979 missense probably benign 0.00
R2264:Ccdc42 UTSW 11 68587651 missense probably benign 0.03
R6307:Ccdc42 UTSW 11 68588280 missense probably damaging 1.00
R6352:Ccdc42 UTSW 11 68594365 missense probably damaging 1.00
R7009:Ccdc42 UTSW 11 68594616 missense probably damaging 0.99
R7262:Ccdc42 UTSW 11 68594573 missense probably damaging 1.00
R7813:Ccdc42 UTSW 11 68597708 missense probably benign 0.00
R7827:Ccdc42 UTSW 11 68594196 missense probably benign 0.23
R8246:Ccdc42 UTSW 11 68587296 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGGATTTAACTCCTAGCGAC -3'
(R):5'- GAAGACACCTTTAATCCCGGAGG -3'

Sequencing Primer
(F):5'- ACTGAGCTACATCATCAGCGTTC -3'
(R):5'- GGAGGTCGGGAGCGTGG -3'
Posted On2018-06-06