Incidental Mutation 'IGL03058:Cdc40'
ID 409315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc40
Ensembl Gene ENSMUSG00000038446
Gene Name cell division cycle 40
Synonyms PRP17, EHB3, 1200003H23Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL03058
Quality Score
Status
Chromosome 10
Chromosomal Location 40707617-40759139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40725824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 215 (E215G)
Ref Sequence ENSEMBL: ENSMUSP00000044305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044166]
AlphaFold Q9DC48
Predicted Effect probably benign
Transcript: ENSMUST00000044166
AA Change: E215G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000044305
Gene: ENSMUSG00000038446
AA Change: E215G

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
low complexity region 224 238 N/A INTRINSIC
WD40 277 317 6.04e-8 SMART
WD40 321 360 8.1e-9 SMART
WD40 363 404 1.58e-2 SMART
WD40 407 446 9.52e-6 SMART
WD40 452 489 2.13e1 SMART
WD40 495 536 1.4e-3 SMART
WD40 539 579 3.37e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216025
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,109,112 (GRCm39) V395A probably benign Het
Adck1 A T 12: 88,425,900 (GRCm39) T443S probably benign Het
Axdnd1 G A 1: 156,204,233 (GRCm39) A541V probably benign Het
B020011L13Rik A G 1: 117,710,699 (GRCm39) D35G possibly damaging Het
Bmp3 T G 5: 99,019,953 (GRCm39) I125M probably damaging Het
Ces1f A G 8: 93,996,600 (GRCm39) probably null Het
Chd8 A C 14: 52,455,730 (GRCm39) V986G probably damaging Het
Clca4a A T 3: 144,667,595 (GRCm39) probably benign Het
Crhbp T A 13: 95,580,306 (GRCm39) E91V probably damaging Het
Dgkh T A 14: 78,865,237 (GRCm39) H53L probably benign Het
Dnajc1 T C 2: 18,222,132 (GRCm39) D532G possibly damaging Het
Dot1l T C 10: 80,626,831 (GRCm39) S230P probably benign Het
Evi5 C T 5: 107,896,017 (GRCm39) V809M probably damaging Het
Fbn1 T A 2: 125,245,120 (GRCm39) M256L probably benign Het
Fem1al T C 11: 29,774,656 (GRCm39) D267G probably benign Het
Fgfr2 C T 7: 129,784,422 (GRCm39) D292N probably damaging Het
Fmn1 C T 2: 113,272,159 (GRCm39) probably benign Het
Htatsf1 T A X: 56,104,281 (GRCm39) D203E probably damaging Het
Kcnh1 T A 1: 192,117,199 (GRCm39) L51Q probably damaging Het
Lamp5 A T 2: 135,911,047 (GRCm39) H260L probably benign Het
Mindy4 T A 6: 55,285,183 (GRCm39) V659D probably damaging Het
Mkks C A 2: 136,718,090 (GRCm39) L397F probably damaging Het
Ncan G A 8: 70,560,582 (GRCm39) S795F possibly damaging Het
Or13c7d A C 4: 43,770,255 (GRCm39) F252C probably damaging Het
Or9g4 T C 2: 85,505,025 (GRCm39) I157V probably benign Het
Papolg T C 11: 23,845,029 (GRCm39) M4V probably benign Het
Pdk3 A T X: 92,845,892 (GRCm39) I143N probably benign Het
Polr2a A T 11: 69,635,873 (GRCm39) probably null Het
Prc1 C T 7: 79,950,873 (GRCm39) T78I probably benign Het
Ret C A 6: 118,152,028 (GRCm39) D569Y probably damaging Het
Samd9l G T 6: 3,374,980 (GRCm39) N760K probably damaging Het
Slc5a12 T A 2: 110,471,137 (GRCm39) S460T probably benign Het
Slco1c1 A G 6: 141,508,913 (GRCm39) I573M probably benign Het
Spata31f1e G A 4: 42,793,764 (GRCm39) L123F probably damaging Het
Steap4 A G 5: 8,025,664 (GRCm39) D75G probably benign Het
Tcf20 A G 15: 82,736,205 (GRCm39) F1749L probably damaging Het
Thbs2 T C 17: 14,910,231 (GRCm39) T123A possibly damaging Het
Tmc3 T C 7: 83,265,094 (GRCm39) S663P possibly damaging Het
Vmn2r121 G T X: 123,042,618 (GRCm39) H180N probably benign Het
Vnn1 T C 10: 23,780,442 (GRCm39) F477L probably benign Het
Xpnpep2 A G X: 47,214,302 (GRCm39) probably null Het
Zfand4 T C 6: 116,265,038 (GRCm39) F168L probably benign Het
Other mutations in Cdc40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Cdc40 APN 10 40,719,124 (GRCm39) missense probably damaging 1.00
IGL02333:Cdc40 APN 10 40,743,855 (GRCm39) missense probably benign 0.00
IGL02490:Cdc40 APN 10 40,717,767 (GRCm39) missense probably benign 0.39
IGL02878:Cdc40 APN 10 40,719,118 (GRCm39) missense probably damaging 0.96
IGL02976:Cdc40 APN 10 40,758,917 (GRCm39) missense probably benign
IGL03178:Cdc40 APN 10 40,723,985 (GRCm39) missense probably benign
R0409:Cdc40 UTSW 10 40,723,164 (GRCm39) missense probably damaging 0.99
R0522:Cdc40 UTSW 10 40,733,608 (GRCm39) missense probably benign 0.21
R0608:Cdc40 UTSW 10 40,724,048 (GRCm39) missense probably benign 0.15
R0730:Cdc40 UTSW 10 40,720,952 (GRCm39) splice site probably benign
R1712:Cdc40 UTSW 10 40,717,372 (GRCm39) missense probably damaging 1.00
R1940:Cdc40 UTSW 10 40,759,067 (GRCm39) unclassified probably benign
R4062:Cdc40 UTSW 10 40,725,848 (GRCm39) splice site probably null
R5035:Cdc40 UTSW 10 40,725,809 (GRCm39) missense probably benign 0.18
R5628:Cdc40 UTSW 10 40,727,049 (GRCm39) missense probably benign 0.03
R6933:Cdc40 UTSW 10 40,720,992 (GRCm39) missense probably damaging 0.96
R7082:Cdc40 UTSW 10 40,743,869 (GRCm39) missense probably benign
R7419:Cdc40 UTSW 10 40,717,439 (GRCm39) missense probably damaging 1.00
R7625:Cdc40 UTSW 10 40,724,048 (GRCm39) missense probably benign 0.15
R7834:Cdc40 UTSW 10 40,758,945 (GRCm39) missense probably benign 0.00
R7908:Cdc40 UTSW 10 40,724,042 (GRCm39) missense probably damaging 1.00
R8031:Cdc40 UTSW 10 40,728,512 (GRCm39) missense probably benign 0.00
R8131:Cdc40 UTSW 10 40,717,473 (GRCm39) missense possibly damaging 0.45
R8545:Cdc40 UTSW 10 40,723,939 (GRCm39) missense probably benign 0.01
R8724:Cdc40 UTSW 10 40,717,480 (GRCm39) missense probably damaging 1.00
R8742:Cdc40 UTSW 10 40,717,480 (GRCm39) missense probably damaging 1.00
R8743:Cdc40 UTSW 10 40,717,480 (GRCm39) missense probably damaging 1.00
R8745:Cdc40 UTSW 10 40,717,480 (GRCm39) missense probably damaging 1.00
R8753:Cdc40 UTSW 10 40,717,480 (GRCm39) missense probably damaging 1.00
R8754:Cdc40 UTSW 10 40,717,480 (GRCm39) missense probably damaging 1.00
R8805:Cdc40 UTSW 10 40,733,576 (GRCm39) missense probably damaging 1.00
R8845:Cdc40 UTSW 10 40,717,790 (GRCm39) missense possibly damaging 0.73
R8899:Cdc40 UTSW 10 40,717,809 (GRCm39) nonsense probably null
RF041:Cdc40 UTSW 10 40,719,119 (GRCm39) missense probably damaging 1.00
X0026:Cdc40 UTSW 10 40,717,448 (GRCm39) nonsense probably null
Posted On 2016-08-02