Incidental Mutation 'IGL01874:Cdc42'
ID178797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc42
Ensembl Gene ENSMUSG00000006699
Gene Namecell division cycle 42
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01874
Quality Score
Status
Chromosome4
Chromosomal Location137319696-137357720 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 137336070 bp
ZygosityHeterozygous
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]
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: 70,768,704 V723D possibly damaging Het
Adgrb1 G A 15: 74,541,574 V536I possibly damaging Het
Aox4 T C 1: 58,252,084 L787S probably damaging Het
Atp2c1 A C 9: 105,448,825 V293G probably damaging Het
Ccnb1 T C 13: 100,783,493 D170G probably damaging Het
Clip1 T C 5: 123,603,666 Q1175R possibly damaging Het
Cox6a1 A G 5: 115,345,845 *113Q probably null Het
Crtc2 C T 3: 90,258,508 P139L probably damaging Het
Cyp8b1 A T 9: 121,915,903 M121K possibly damaging Het
D630003M21Rik C A 2: 158,204,724 G778C probably damaging Het
Dgat1 A G 15: 76,503,041 F349L probably damaging Het
Enox1 A G 14: 77,579,162 Y194C probably damaging Het
Fam120b T A 17: 15,403,039 C426* probably null Het
Fam129b A T 2: 32,905,767 probably null Het
Fxyd3 A G 7: 31,070,893 probably benign Het
Gin1 A G 1: 97,783,072 Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm1818 T C 12: 48,556,190 noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 S598P probably damaging Het
Hook3 T A 8: 26,039,732 N199Y possibly damaging Het
Il10ra A G 9: 45,267,160 L41P probably damaging Het
Itgam C T 7: 128,115,166 T949I probably damaging Het
Kctd3 A G 1: 188,996,991 V123A probably damaging Het
Krt84 G A 15: 101,527,804 A450V probably damaging Het
Lrrc7 G A 3: 158,240,443 probably benign Het
Nckap1 A G 2: 80,525,636 F608L probably damaging Het
Nmbr A T 10: 14,766,952 Y85F probably benign Het
Nol6 A C 4: 41,115,412 L1135R probably damaging Het
Ntan1 T C 16: 13,835,213 F278L probably benign Het
Olfr138 T A 17: 38,275,517 S249T probably benign Het
Pcsk5 T A 19: 17,595,677 T474S probably damaging Het
Pex11b T A 3: 96,643,567 probably null Het
Pkhd1 G T 1: 20,103,235 A3786E probably benign Het
Prkdc T C 16: 15,734,994 I2098T possibly damaging Het
Prl2c5 T A 13: 13,190,777 S169R probably benign Het
Ptbp2 A G 3: 119,747,800 V196A probably damaging Het
Rad17 T C 13: 100,617,684 probably benign Het
Skiv2l T C 17: 34,841,209 N114D probably benign Het
Slc47a2 T A 11: 61,312,859 probably null Het
Srcin1 A T 11: 97,533,098 M684K possibly damaging Het
Sspo T A 6: 48,452,190 C298S probably damaging Het
Tenm3 G T 8: 48,236,758 Y1915* probably null Het
Tnks1bp1 A G 2: 85,058,447 T373A probably benign Het
Trp63 A C 16: 25,882,585 N470H possibly damaging Het
Ttn T C 2: 76,798,563 N12703S probably damaging Het
Ubr4 T C 4: 139,393,289 probably benign Het
Vmn2r56 T A 7: 12,715,675 Y212F probably benign Het
Other mutations in Cdc42
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4883:Cdc42 UTSW 4 137328804 missense probably benign 0.00
R6660:Cdc42 UTSW 4 137328834 missense probably benign 0.30
R6932:Cdc42 UTSW 4 137322621 critical splice acceptor site probably null
Posted On2014-05-07