Incidental Mutation 'R7262:Ccdc42'
ID 564697
Institutional Source Beutler Lab
Gene Symbol Ccdc42
Ensembl Gene ENSMUSG00000045915
Gene Name coiled-coil domain containing 42
Synonyms A530001H01Rik
MMRRC Submission 045353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7262 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 68477863-68488777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68485399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 106 (T106A)
Ref Sequence ENSEMBL: ENSMUSP00000099672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063006] [ENSMUST00000102612] [ENSMUST00000154294]
AlphaFold Q5SV66
Predicted Effect probably damaging
Transcript: ENSMUST00000063006
AA Change: T175A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915
AA Change: T175A

DomainStartEndE-ValueType
Pfam:DUF4200 39 169 6e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102612
AA Change: T106A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099672
Gene: ENSMUSG00000045915
AA Change: T106A

DomainStartEndE-ValueType
coiled coil region 35 92 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154294
AA Change: T253A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: T253A

DomainStartEndE-ValueType
Pfam:DUF4200 44 162 5.6e-30 PFAM
coiled coil region 182 239 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,946,137 (GRCm39) probably null Het
Adh5 C A 3: 138,151,133 (GRCm39) A32D possibly damaging Het
Ap1m2 A G 9: 21,213,762 (GRCm39) I295T possibly damaging Het
B230104I21Rik T C 4: 154,434,091 (GRCm39) S92P unknown Het
Carnmt1 A T 19: 18,655,228 (GRCm39) N127I probably benign Het
Cdcp1 T C 9: 123,002,680 (GRCm39) E797G probably damaging Het
Cep112 T A 11: 108,555,467 (GRCm39) V821D probably damaging Het
Cpvl A T 6: 53,909,500 (GRCm39) V212D probably damaging Het
Cttnbp2nl A T 3: 104,940,062 (GRCm39) N2K probably damaging Het
Cyp2c69 T C 19: 39,875,176 (GRCm39) probably benign Het
Cyp2u1 T C 3: 131,091,605 (GRCm39) D305G probably damaging Het
Dab2ip A G 2: 35,512,298 (GRCm39) probably null Het
Ddx55 T C 5: 124,704,919 (GRCm39) L396P probably benign Het
Dhx34 G A 7: 15,937,623 (GRCm39) A786V probably benign Het
Efcab3 G A 11: 104,745,432 (GRCm39) probably null Het
Ehbp1l1 A T 19: 5,768,474 (GRCm39) L943* probably null Het
Epm2aip1 A G 9: 111,101,728 (GRCm39) T234A probably benign Het
Flot2 T C 11: 77,948,175 (GRCm39) M145T probably damaging Het
Fn3k T C 11: 121,339,741 (GRCm39) F168L probably damaging Het
Gmfb A T 14: 47,052,386 (GRCm39) C87S probably damaging Het
H2-M3 T C 17: 37,582,084 (GRCm39) F180S probably damaging Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Hdac3 C T 18: 38,078,616 (GRCm39) C123Y probably damaging Het
Itpk1 T C 12: 102,641,712 (GRCm39) E37G possibly damaging Het
Jmjd7 A G 2: 119,862,467 (GRCm39) H283R probably benign Het
Kif26b T C 1: 178,745,219 (GRCm39) S1772P possibly damaging Het
Klhl6 T C 16: 19,801,546 (GRCm39) T70A probably damaging Het
Kntc1 C A 5: 123,925,036 (GRCm39) D1116E probably benign Het
Lama4 T A 10: 38,970,930 (GRCm39) H1498Q probably damaging Het
Lamp1 A T 8: 13,217,296 (GRCm39) T102S probably benign Het
Lrp8 A G 4: 107,704,661 (GRCm39) N168D probably benign Het
Ltbp1 G T 17: 75,671,363 (GRCm39) D1515Y probably damaging Het
Obscn A G 11: 59,006,715 (GRCm39) V1149A probably damaging Het
Or10q1 A T 19: 13,726,535 (GRCm39) T22S probably benign Het
Or4f6 A G 2: 111,838,902 (GRCm39) S210P probably damaging Het
Or52ad1 T C 7: 102,995,764 (GRCm39) R124G probably damaging Het
Pak4 C A 7: 28,264,625 (GRCm39) M92I possibly damaging Het
Pam T C 1: 97,782,448 (GRCm39) K157R Het
Pcdh9 A T 14: 93,253,141 (GRCm39) V1174E probably benign Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Ppp1r3a T C 6: 14,719,069 (GRCm39) D615G probably benign Het
Senp1 A T 15: 97,964,379 (GRCm39) D278E probably benign Het
Serpinc1 A G 1: 160,817,229 (GRCm39) N108D probably damaging Het
Srl C A 16: 4,315,415 (GRCm39) A76S probably damaging Het
Tbc1d16 C A 11: 119,045,921 (GRCm39) V509L probably benign Het
Tbc1d24 A G 17: 24,426,820 (GRCm39) F357S probably damaging Het
Tcaf3 A G 6: 42,570,735 (GRCm39) L339P probably damaging Het
Tmem232 A T 17: 65,807,112 (GRCm39) I27N probably benign Het
Ubr2 T C 17: 47,311,665 (GRCm39) D62G probably damaging Het
Vcan T G 13: 89,853,280 (GRCm39) D560A possibly damaging Het
Vmn2r80 T A 10: 79,005,579 (GRCm39) N405K probably damaging Het
Wdhd1 A T 14: 47,489,430 (GRCm39) I701K probably benign Het
Other mutations in Ccdc42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Ccdc42 APN 11 68,485,447 (GRCm39) missense probably benign 0.09
IGL01897:Ccdc42 APN 11 68,485,101 (GRCm39) missense probably benign 0.00
R0153:Ccdc42 UTSW 11 68,478,476 (GRCm39) missense possibly damaging 0.56
R0540:Ccdc42 UTSW 11 68,488,536 (GRCm39) nonsense probably null
R0607:Ccdc42 UTSW 11 68,488,536 (GRCm39) nonsense probably null
R1619:Ccdc42 UTSW 11 68,485,115 (GRCm39) missense probably damaging 0.97
R1831:Ccdc42 UTSW 11 68,481,805 (GRCm39) missense probably benign 0.00
R2264:Ccdc42 UTSW 11 68,478,477 (GRCm39) missense probably benign 0.03
R6307:Ccdc42 UTSW 11 68,479,106 (GRCm39) missense probably damaging 1.00
R6352:Ccdc42 UTSW 11 68,485,191 (GRCm39) missense probably damaging 1.00
R6522:Ccdc42 UTSW 11 68,479,046 (GRCm39) missense probably damaging 1.00
R7009:Ccdc42 UTSW 11 68,485,442 (GRCm39) missense probably damaging 0.99
R7813:Ccdc42 UTSW 11 68,488,534 (GRCm39) missense probably benign 0.00
R7827:Ccdc42 UTSW 11 68,485,022 (GRCm39) missense probably benign 0.23
R8246:Ccdc42 UTSW 11 68,478,122 (GRCm39) missense probably benign 0.00
R8874:Ccdc42 UTSW 11 68,485,396 (GRCm39) missense probably damaging 0.98
R9225:Ccdc42 UTSW 11 68,479,061 (GRCm39) missense probably damaging 1.00
Z1186:Ccdc42 UTSW 11 68,478,017 (GRCm39) start gained probably benign
Z1187:Ccdc42 UTSW 11 68,478,017 (GRCm39) start gained probably benign
Z1188:Ccdc42 UTSW 11 68,478,017 (GRCm39) start gained probably benign
Z1189:Ccdc42 UTSW 11 68,478,017 (GRCm39) start gained probably benign
Z1190:Ccdc42 UTSW 11 68,478,017 (GRCm39) start gained probably benign
Z1191:Ccdc42 UTSW 11 68,478,017 (GRCm39) start gained probably benign
Z1192:Ccdc42 UTSW 11 68,478,017 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CCGCAGTGATGTCATCTTTTGG -3'
(R):5'- GTTTGCCAATTCAGAACCTCC -3'

Sequencing Primer
(F):5'- AAGCTTTGGGCCCAGTATAG -3'
(R):5'- AATTCAGAACCTCCTTGACCCTG -3'
Posted On 2019-06-26