Incidental Mutation 'IGL00159:Cdc123'
ID 1924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc123
Ensembl Gene ENSMUSG00000039128
Gene Name cell division cycle 123
Synonyms G431001I09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00159
Quality Score
Status
Chromosome 2
Chromosomal Location 5794294-5845164 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 5804935 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 222 (Q222K)
Ref Sequence ENSEMBL: ENSMUSP00000043033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043864]
AlphaFold Q8CII2
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
R8695:Cdc123 UTSW 2 5821363 missense possibly damaging 0.69
R8865:Cdc123 UTSW 2 5795424 intron probably benign
R9018:Cdc123 UTSW 2 5844872 missense probably benign 0.00
R9265:Cdc123 UTSW 2 5803954 missense possibly damaging 0.50
Z1176:Cdc123 UTSW 2 5804985 missense probably damaging 0.97
Posted On 2011-07-12