Incidental Mutation 'IGL00545:Cep44'
ID 12493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep44
Ensembl Gene ENSMUSG00000038215
Gene Name centrosomal protein 44
Synonyms 4933440G23Rik, BC088983
Accession Numbers
Essential gene? Probably essential (E-score: 0.803) question?
Stock # IGL00545
Quality Score
Status
Chromosome 8
Chromosomal Location 56984557-57004082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57000435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 26 (V26E)
Ref Sequence ENSEMBL: ENSMUSP00000042586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040218] [ENSMUST00000040330] [ENSMUST00000110322] [ENSMUST00000134162] [ENSMUST00000135337] [ENSMUST00000140107] [ENSMUST00000130930] [ENSMUST00000210863]
AlphaFold Q5HZK1
Predicted Effect probably benign
Transcript: ENSMUST00000040218
SMART Domains Protein: ENSMUSP00000037544
Gene: ENSMUSG00000038206

DomainStartEndE-ValueType
Pfam:F-box-like 71 114 1.3e-8 PFAM
Sec7 132 316 2.52e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000040330
AA Change: V26E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042586
Gene: ENSMUSG00000038215
AA Change: V26E

DomainStartEndE-ValueType
Pfam:CEP44 5 131 2.5e-52 PFAM
coiled coil region 232 263 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110322
SMART Domains Protein: ENSMUSP00000105951
Gene: ENSMUSG00000038206

DomainStartEndE-ValueType
Pfam:F-box-like 71 114 1.2e-9 PFAM
Blast:Sec7 132 159 8e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000123493
SMART Domains Protein: ENSMUSP00000116884
Gene: ENSMUSG00000038215

DomainStartEndE-ValueType
Pfam:CEP44 1 73 3.3e-31 PFAM
coiled coil region 173 204 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127877
Predicted Effect possibly damaging
Transcript: ENSMUST00000134162
AA Change: V26E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117526
Gene: ENSMUSG00000038215
AA Change: V26E

DomainStartEndE-ValueType
Pfam:CEP44 5 102 9.1e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135337
AA Change: V26E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122835
Gene: ENSMUSG00000038215
AA Change: V26E

DomainStartEndE-ValueType
Pfam:CEP44 5 80 1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140107
AA Change: V26E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114502
Gene: ENSMUSG00000038215
AA Change: V26E

DomainStartEndE-ValueType
Pfam:CEP44 5 136 1.7e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130930
AA Change: V26E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118959
Gene: ENSMUSG00000038215
AA Change: V26E

DomainStartEndE-ValueType
Pfam:CEP44 5 63 3.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156840
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,105,227 (GRCm39) N139K possibly damaging Het
Ano10 A G 9: 122,090,422 (GRCm39) V105A possibly damaging Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Dnah7a A G 1: 53,496,905 (GRCm39) I3117T possibly damaging Het
Efna1 T A 3: 89,180,123 (GRCm39) N91I probably benign Het
Golph3 G A 15: 12,339,757 (GRCm39) R90H probably damaging Het
Hps3 G T 3: 20,073,971 (GRCm39) L332I possibly damaging Het
Marchf5 C T 19: 37,194,624 (GRCm39) S94L probably benign Het
Mrpl46 T A 7: 78,432,724 (GRCm39) Q18L probably benign Het
Nfe2l1 A G 11: 96,708,542 (GRCm39) V741A probably benign Het
Nlrp2 C T 7: 5,331,251 (GRCm39) A382T possibly damaging Het
Pdgfd C T 9: 6,288,621 (GRCm39) Q92* probably null Het
Ubxn4 A G 1: 128,187,202 (GRCm39) D65G possibly damaging Het
Zfp119b A C 17: 56,246,270 (GRCm39) H305Q probably damaging Het
Other mutations in Cep44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02932:Cep44 APN 8 57,000,459 (GRCm39) missense probably damaging 1.00
R0347:Cep44 UTSW 8 56,998,510 (GRCm39) missense probably damaging 1.00
R0609:Cep44 UTSW 8 56,997,187 (GRCm39) missense possibly damaging 0.79
R0669:Cep44 UTSW 8 56,994,008 (GRCm39) missense possibly damaging 0.74
R1449:Cep44 UTSW 8 56,993,985 (GRCm39) missense probably benign 0.01
R1493:Cep44 UTSW 8 56,985,870 (GRCm39) missense probably damaging 1.00
R4114:Cep44 UTSW 8 56,998,457 (GRCm39) missense probably benign 0.25
R4422:Cep44 UTSW 8 56,991,652 (GRCm39) missense probably benign 0.00
R4423:Cep44 UTSW 8 56,991,652 (GRCm39) missense probably benign 0.00
R4425:Cep44 UTSW 8 56,991,652 (GRCm39) missense probably benign 0.00
R4621:Cep44 UTSW 8 56,995,951 (GRCm39) missense probably damaging 0.99
R5017:Cep44 UTSW 8 56,997,242 (GRCm39) missense possibly damaging 0.86
R5190:Cep44 UTSW 8 56,985,831 (GRCm39) missense probably benign 0.05
R5898:Cep44 UTSW 8 56,994,056 (GRCm39) missense probably damaging 1.00
R5938:Cep44 UTSW 8 57,000,457 (GRCm39) missense possibly damaging 0.93
R6080:Cep44 UTSW 8 56,992,876 (GRCm39) missense possibly damaging 0.50
R6150:Cep44 UTSW 8 56,992,840 (GRCm39) missense probably benign 0.39
R7016:Cep44 UTSW 8 56,997,234 (GRCm39) missense possibly damaging 0.89
R7141:Cep44 UTSW 8 56,992,886 (GRCm39) missense probably damaging 1.00
R7466:Cep44 UTSW 8 56,994,018 (GRCm39) frame shift probably null
R7753:Cep44 UTSW 8 56,985,842 (GRCm39) missense probably benign 0.16
R7841:Cep44 UTSW 8 56,994,018 (GRCm39) frame shift probably null
Z1176:Cep44 UTSW 8 56,997,163 (GRCm39) missense possibly damaging 0.63
Posted On 2012-12-06