Incidental Mutation 'IGL01874:Cdc42'
ID 178797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc42
Ensembl Gene ENSMUSG00000006699
Gene Name cell division cycle 42
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01874
Quality Score
Status
Chromosome 4
Chromosomal Location 137047007-137085031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137063381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 4 (I4V)
Ref Sequence ENSEMBL: ENSMUSP00000054634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030417] [ENSMUST00000051477]
AlphaFold P60766
Predicted Effect probably benign
Transcript: ENSMUST00000030417
AA Change: I4V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000030417
Gene: ENSMUSG00000006699
AA Change: I4V

DomainStartEndE-ValueType
RHO 6 179 1.29e-131 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051477
AA Change: I4V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000054634
Gene: ENSMUSG00000006699
AA Change: I4V

DomainStartEndE-ValueType
RHO 6 179 9.09e-132 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Embryos homozygous for a knock-out allele are small, lack primary ectoderm, exhibit disorganized embryonic tissue and die before somite formation. Mice homozygous for a gene trapped allele die at E3.5-E7.5. Mice heterozygous for a targeted allele show reduced ventricle muscle contractility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,916,823 (GRCm39) V723D possibly damaging Het
Adgrb1 G A 15: 74,413,423 (GRCm39) V536I possibly damaging Het
Aox4 T C 1: 58,291,243 (GRCm39) L787S probably damaging Het
Atp2c1 A C 9: 105,326,024 (GRCm39) V293G probably damaging Het
Ccnb1 T C 13: 100,920,001 (GRCm39) D170G probably damaging Het
Clip1 T C 5: 123,741,729 (GRCm39) Q1175R possibly damaging Het
Cox6a1 A G 5: 115,483,904 (GRCm39) *113Q probably null Het
Crtc2 C T 3: 90,165,815 (GRCm39) P139L probably damaging Het
Cyp8b1 A T 9: 121,744,969 (GRCm39) M121K possibly damaging Het
D630003M21Rik C A 2: 158,046,644 (GRCm39) G778C probably damaging Het
Dgat1 A G 15: 76,387,241 (GRCm39) F349L probably damaging Het
Enox1 A G 14: 77,816,602 (GRCm39) Y194C probably damaging Het
Fam120b T A 17: 15,623,301 (GRCm39) C426* probably null Het
Fxyd3 A G 7: 30,770,318 (GRCm39) probably benign Het
Gin1 A G 1: 97,710,797 (GRCm39) Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11110 T A 17: 57,399,693 (GRCm39) probably benign Het
Gm1818 T C 12: 48,602,973 (GRCm39) noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 (GRCm39) S598P probably damaging Het
Hook3 T A 8: 26,529,760 (GRCm39) N199Y possibly damaging Het
Il10ra A G 9: 45,178,458 (GRCm39) L41P probably damaging Het
Itgam C T 7: 127,714,338 (GRCm39) T949I probably damaging Het
Kctd3 A G 1: 188,729,188 (GRCm39) V123A probably damaging Het
Krt84 G A 15: 101,436,239 (GRCm39) A450V probably damaging Het
Lrrc7 G A 3: 157,946,080 (GRCm39) probably benign Het
Nckap1 A G 2: 80,355,980 (GRCm39) F608L probably damaging Het
Niban2 A T 2: 32,795,779 (GRCm39) probably null Het
Nmbr A T 10: 14,642,696 (GRCm39) Y85F probably benign Het
Nol6 A C 4: 41,115,412 (GRCm39) L1135R probably damaging Het
Ntan1 T C 16: 13,653,077 (GRCm39) F278L probably benign Het
Or2n1e T A 17: 38,586,408 (GRCm39) S249T probably benign Het
Pcsk5 T A 19: 17,573,041 (GRCm39) T474S probably damaging Het
Pex11b T A 3: 96,550,883 (GRCm39) probably null Het
Pkhd1 G T 1: 20,173,459 (GRCm39) A3786E probably benign Het
Prkdc T C 16: 15,552,858 (GRCm39) I2098T possibly damaging Het
Prl2c5 T A 13: 13,365,362 (GRCm39) S169R probably benign Het
Ptbp2 A G 3: 119,541,449 (GRCm39) V196A probably damaging Het
Rad17 T C 13: 100,754,192 (GRCm39) probably benign Het
Skic2 T C 17: 35,060,185 (GRCm39) N114D probably benign Het
Slc47a2 T A 11: 61,203,685 (GRCm39) probably null Het
Srcin1 A T 11: 97,423,924 (GRCm39) M684K possibly damaging Het
Sspo T A 6: 48,429,124 (GRCm39) C298S probably damaging Het
Tenm3 G T 8: 48,689,793 (GRCm39) Y1915* probably null Het
Tnks1bp1 A G 2: 84,888,791 (GRCm39) T373A probably benign Het
Trp63 A C 16: 25,701,335 (GRCm39) N470H possibly damaging Het
Ttn T C 2: 76,628,907 (GRCm39) N12703S probably damaging Het
Ubr4 T C 4: 139,120,600 (GRCm39) probably benign Het
Vmn2r56 T A 7: 12,449,602 (GRCm39) Y212F probably benign Het
Other mutations in Cdc42
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4883:Cdc42 UTSW 4 137,056,115 (GRCm39) missense probably benign 0.00
R6660:Cdc42 UTSW 4 137,056,145 (GRCm39) missense probably benign 0.30
R6932:Cdc42 UTSW 4 137,049,932 (GRCm39) critical splice acceptor site probably null
R8292:Cdc42 UTSW 4 137,063,384 (GRCm39) missense probably benign
R8376:Cdc42 UTSW 4 137,056,205 (GRCm39) missense probably benign 0.07
R9244:Cdc42 UTSW 4 137,056,391 (GRCm39) missense probably benign 0.45
Posted On 2014-05-07