Incidental Mutation 'IGL00159:Cdc123'
ID1924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc123
Ensembl Gene ENSMUSG00000039128
Gene Namecell division cycle 123
SynonymsG431001I09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00159
Quality Score
Status
Chromosome2
Chromosomal Location5794294-5845164 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 5804935 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 222 (Q222K)
Ref Sequence ENSEMBL: ENSMUSP00000043033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043864]
Predicted Effect probably benign
Transcript: ENSMUST00000043864
AA Change: Q222K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000043033
Gene: ENSMUSG00000039128
AA Change: Q222K

DomainStartEndE-ValueType
Pfam:D123 14 314 3e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124662
Predicted Effect probably benign
Transcript: ENSMUST00000128467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138312
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik G A 7: 118,797,047 probably null Het
Axin1 A T 17: 26,142,805 D41V possibly damaging Het
BC034090 C A 1: 155,225,451 E718* probably null Het
Clip1 A C 5: 123,603,654 V1053G possibly damaging Het
Dock7 T A 4: 99,063,985 E416V probably damaging Het
Dydc1 T C 14: 41,087,413 L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 V732A probably benign Het
Dzip1l T A 9: 99,637,777 L119Q probably damaging Het
Erp27 T A 6: 136,909,502 S178C probably damaging Het
Fbn1 A G 2: 125,397,873 V298A probably benign Het
Fbxo34 A G 14: 47,529,474 H97R probably damaging Het
Gm20521 C T 14: 54,884,622 Q81* probably null Het
Gspt1 T C 16: 11,222,612 M610V probably damaging Het
Herc1 A G 9: 66,437,682 Q1919R possibly damaging Het
Il19 A G 1: 130,935,055 probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lrrk2 A G 15: 91,747,799 K1309E possibly damaging Het
Lurap1 T C 4: 116,137,690 T115A probably damaging Het
Myo18b G T 5: 112,874,131 T465K probably benign Het
Nwd1 A T 8: 72,671,077 D648V probably damaging Het
Olfr272 T G 4: 52,911,618 M59L possibly damaging Het
Olfr520 G A 7: 99,735,317 R58H probably benign Het
Otof T C 5: 30,375,904 Y1527C probably damaging Het
Otop3 G A 11: 115,344,397 C285Y probably damaging Het
Parp3 A G 9: 106,471,387 I478T probably benign Het
Pdzd2 C T 15: 12,457,983 E265K possibly damaging Het
Pik3c2g T C 6: 139,896,125 L634P probably damaging Het
Prkg1 C A 19: 31,302,340 V165L probably benign Het
Riok3 A G 18: 12,148,891 I306V possibly damaging Het
Ror2 T C 13: 53,113,082 D439G probably benign Het
Scn2a T A 2: 65,743,090 I1428N probably damaging Het
Sgcg C T 14: 61,232,475 D146N probably benign Het
Slc16a9 A G 10: 70,282,699 R283G probably benign Het
Sptb T C 12: 76,621,331 D664G probably benign Het
Tmprss3 T A 17: 31,195,008 D54V probably damaging Het
Ttc37 T C 13: 76,143,278 probably null Het
Tubd1 G T 11: 86,565,729 V374F probably benign Het
Vmn2r57 A T 7: 41,428,785 M83K probably benign Het
Vps13c A G 9: 67,945,999 E2458G probably benign Het
Zhx2 A T 15: 57,822,870 E545V probably damaging Het
Other mutations in Cdc123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Cdc123 APN 2 5798449 missense probably benign 0.07
IGL01860:Cdc123 APN 2 5803941 splice site probably benign
IGL03002:Cdc123 APN 2 5798355 splice site probably benign
Sinking UTSW 2 5798363 missense possibly damaging 0.82
R0563:Cdc123 UTSW 2 5798401 missense probably benign
R1412:Cdc123 UTSW 2 5803965 missense possibly damaging 0.80
R1584:Cdc123 UTSW 2 5803977 critical splice acceptor site probably null
R1838:Cdc123 UTSW 2 5794891 splice site probably null
R2064:Cdc123 UTSW 2 5795543 splice site probably benign
R2144:Cdc123 UTSW 2 5810806 missense probably benign 0.19
R4082:Cdc123 UTSW 2 5810755 intron probably benign
R4679:Cdc123 UTSW 2 5844892 missense probably damaging 1.00
R4970:Cdc123 UTSW 2 5804937 missense possibly damaging 0.59
R5089:Cdc123 UTSW 2 5805000 missense probably benign 0.00
R5112:Cdc123 UTSW 2 5804937 missense possibly damaging 0.59
R5691:Cdc123 UTSW 2 5823175 missense probably benign 0.00
R5914:Cdc123 UTSW 2 5798363 missense possibly damaging 0.82
R7860:Cdc123 UTSW 2 5803964 missense probably benign 0.00
Z1176:Cdc123 UTSW 2 5804985 missense probably damaging 0.97
Posted On2011-07-12