Incidental Mutation 'IGL02983:Cdc42ep4'
ID 406641
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc42ep4
Ensembl Gene ENSMUSG00000041598
Gene Name CDC42 effector protein (Rho GTPase binding) 4
Synonyms CEP4, 1500041M20Rik, Borg4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL02983
Quality Score
Status
Chromosome 11
Chromosomal Location 113726850-113751881 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113729169 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 132 (K132R)
Ref Sequence ENSEMBL: ENSMUSP00000102227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053536] [ENSMUST00000106616] [ENSMUST00000131488] [ENSMUST00000153453]
AlphaFold Q9JM96
Predicted Effect probably benign
Transcript: ENSMUST00000053536
AA Change: K132R

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: K132R

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:PBD 26 83 1e-13 PFAM
Pfam:BORG_CEP 110 224 1e-35 PFAM
low complexity region 280 308 N/A INTRINSIC
low complexity region 340 346 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106616
AA Change: K132R

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: K132R

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:PBD 26 83 2.6e-14 PFAM
Pfam:BORG_CEP 110 219 1.6e-24 PFAM
low complexity region 280 308 N/A INTRINSIC
low complexity region 340 346 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131488
AA Change: K132R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114599
Gene: ENSMUSG00000041598
AA Change: K132R

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:PBD 26 83 1.1e-13 PFAM
Pfam:BORG_CEP 110 194 7.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153453
SMART Domains Protein: ENSMUSP00000120316
Gene: ENSMUSG00000041598

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:PBD 26 83 1.6e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired glutamate clearance and motor learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Cdc42ep4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Cdc42ep4 APN 11 113729502 missense probably damaging 1.00
IGL01715:Cdc42ep4 APN 11 113729442 missense probably damaging 1.00
IGL01960:Cdc42ep4 APN 11 113729004 missense probably benign
IGL02118:Cdc42ep4 APN 11 113729116 missense probably benign 0.02
R0621:Cdc42ep4 UTSW 11 113728696 missense probably damaging 1.00
R1590:Cdc42ep4 UTSW 11 113728566 missense possibly damaging 0.82
R1663:Cdc42ep4 UTSW 11 113729451 missense probably damaging 1.00
R1791:Cdc42ep4 UTSW 11 113729337 missense probably damaging 1.00
R2360:Cdc42ep4 UTSW 11 113728702 missense probably damaging 1.00
R6017:Cdc42ep4 UTSW 11 113729366 missense probably benign 0.03
R6053:Cdc42ep4 UTSW 11 113728986 missense probably damaging 1.00
R6967:Cdc42ep4 UTSW 11 113729172 missense possibly damaging 0.79
R7066:Cdc42ep4 UTSW 11 113729218 missense probably damaging 1.00
R7082:Cdc42ep4 UTSW 11 113729118 missense probably benign
R7556:Cdc42ep4 UTSW 11 113728540 missense probably damaging 1.00
R7982:Cdc42ep4 UTSW 11 113728576 missense possibly damaging 0.55
R8964:Cdc42ep4 UTSW 11 113729452 missense probably damaging 0.99
Posted On 2016-08-02