Incidental Mutation 'IGL02878:Cdc40'
ID362700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc40
Ensembl Gene ENSMUSG00000038446
Gene Namecell division cycle 40
SynonymsPRP17, 1200003H23Rik, EHB3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL02878
Quality Score
Status
Chromosome10
Chromosomal Location40831621-40883311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40843122 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 337 (D337G)
Ref Sequence ENSEMBL: ENSMUSP00000044305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044166]
Predicted Effect probably damaging
Transcript: ENSMUST00000044166
AA Change: D337G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044305
Gene: ENSMUSG00000038446
AA Change: D337G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,138,329 D801G probably benign Het
Abce1 T C 8: 79,703,007 H95R possibly damaging Het
Axl T A 7: 25,758,877 M818L probably damaging Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Cep70 T C 9: 99,281,107 probably benign Het
Cpeb1 C T 7: 81,357,326 V318I probably damaging Het
Crlf1 G A 8: 70,503,640 probably null Het
Dnah6 A T 6: 73,032,587 D3740E probably benign Het
Dnajc28 C T 16: 91,616,441 R329Q possibly damaging Het
Ehmt2 T C 17: 34,910,767 Y946H probably damaging Het
Gapdhs C T 7: 30,729,879 probably benign Het
Gpr61 A T 3: 108,150,028 L439H probably damaging Het
Klf9 G T 19: 23,142,269 probably benign Het
Krt73 T C 15: 101,798,826 Y309C probably damaging Het
Lrrk1 T C 7: 66,262,563 M1750V probably benign Het
Mc1r G T 8: 123,407,630 G41C probably damaging Het
Mecr C A 4: 131,854,708 A133E probably damaging Het
Mon2 T C 10: 123,006,991 N1511S probably benign Het
Mrpl13 A T 15: 55,540,199 L106* probably null Het
Mrpl48 A T 7: 100,574,513 V1E possibly damaging Het
Myo1c T A 11: 75,669,033 W683R possibly damaging Het
Myo9a G A 9: 59,908,300 probably null Het
Myrfl A T 10: 116,777,405 I831K possibly damaging Het
Neurl4 T A 11: 69,906,831 Y671N probably damaging Het
Olfr347 A T 2: 36,734,477 D52V probably damaging Het
Olfr57 G T 10: 79,035,558 C254F probably benign Het
Opalin A T 19: 41,067,669 D62E probably benign Het
Otoa T C 7: 121,143,853 F768L probably damaging Het
Pde4b T A 4: 102,601,639 N497K probably damaging Het
Plcl2 T A 17: 50,607,355 L464Q probably damaging Het
Rfc3 A G 5: 151,642,914 *357R probably null Het
Ryr2 A G 13: 11,918,319 S89P probably benign Het
Sema3b C T 9: 107,600,993 V398I probably damaging Het
Setd3 A G 12: 108,108,555 probably null Het
Sgsh T C 11: 119,346,558 D410G probably damaging Het
Slc9a3 G T 13: 74,165,357 E730* probably null Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Tmem132c T C 5: 127,563,090 L775P probably damaging Het
Togaram1 T C 12: 64,992,626 V1158A possibly damaging Het
Ttn A G 2: 76,776,878 F17934L probably damaging Het
Ube3b T C 5: 114,404,717 probably null Het
Ydjc A G 16: 17,147,605 E111G possibly damaging Het
Zp3r T A 1: 130,582,851 H443L probably benign Het
Other mutations in Cdc40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Cdc40 APN 10 40843128 missense probably damaging 1.00
IGL02333:Cdc40 APN 10 40867859 missense probably benign 0.00
IGL02490:Cdc40 APN 10 40841771 missense probably benign 0.39
IGL02976:Cdc40 APN 10 40882921 missense probably benign
IGL03058:Cdc40 APN 10 40849828 missense probably benign 0.01
IGL03178:Cdc40 APN 10 40847989 missense probably benign
R0409:Cdc40 UTSW 10 40847168 missense probably damaging 0.99
R0522:Cdc40 UTSW 10 40857612 missense probably benign 0.21
R0608:Cdc40 UTSW 10 40848052 missense probably benign 0.15
R0730:Cdc40 UTSW 10 40844956 splice site probably benign
R1712:Cdc40 UTSW 10 40841376 missense probably damaging 1.00
R1940:Cdc40 UTSW 10 40883071 unclassified probably benign
R4062:Cdc40 UTSW 10 40849852 splice site probably null
R5035:Cdc40 UTSW 10 40849813 missense probably benign 0.18
R5628:Cdc40 UTSW 10 40851053 missense probably benign 0.03
R6933:Cdc40 UTSW 10 40844996 missense probably damaging 0.96
R7082:Cdc40 UTSW 10 40867873 missense probably benign
R7419:Cdc40 UTSW 10 40841443 missense probably damaging 1.00
R7625:Cdc40 UTSW 10 40848052 missense probably benign 0.15
R7834:Cdc40 UTSW 10 40882949 missense probably benign 0.00
R7908:Cdc40 UTSW 10 40848046 missense probably damaging 1.00
R8031:Cdc40 UTSW 10 40852516 missense probably benign 0.00
R8131:Cdc40 UTSW 10 40841477 missense possibly damaging 0.45
RF041:Cdc40 UTSW 10 40843123 missense probably damaging 1.00
X0026:Cdc40 UTSW 10 40841452 nonsense probably null
Posted On2015-12-18