Incidental Mutation 'IGL00679:Cep57l1'
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ID12531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep57l1
Ensembl Gene ENSMUSG00000019813
Gene Namecentrosomal protein 57-like 1
Synonyms4930484D11Rik, 2410017P07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00679
Quality Score
Status
Chromosome10
Chromosomal Location41718840-41809871 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 41719800 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 319 (C319*)
Ref Sequence ENSEMBL: ENSMUSP00000141031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000105505] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000189488] [ENSMUST00000189770] [ENSMUST00000190022] [ENSMUST00000191498]
Predicted Effect probably null
Transcript: ENSMUST00000019951
AA Change: C395*
SMART Domains Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: C395*

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 227 1.2e-64 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Cep57_MT_bd 283 356 2.5e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105505
AA Change: C366*
SMART Domains Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: C366*

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185394
Predicted Effect probably null
Transcript: ENSMUST00000186239
AA Change: C395*
SMART Domains Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: C395*

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 227 2.3e-72 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Cep57_MT_bd 281 356 1e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000187143
AA Change: C366*
SMART Domains Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: C366*

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189488
SMART Domains Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225

DomainStartEndE-ValueType
low complexity region 328 347 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000189770
AA Change: C366*
SMART Domains Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: C366*

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000190022
AA Change: C319*
SMART Domains Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: C319*

DomainStartEndE-ValueType
Pfam:Cep57_CLD 45 151 6.6e-38 PFAM
low complexity region 158 169 N/A INTRINSIC
Pfam:Cep57_MT_bd 205 280 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191498
SMART Domains Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 229 1.9e-65 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013F07Rik A G 3: 108,537,635 E6G possibly damaging Het
Arhgap5 C A 12: 52,517,281 A345D probably damaging Het
Ccdc73 C T 2: 104,994,591 P990S probably damaging Het
Cep112 A G 11: 108,591,053 K692R probably damaging Het
Cntnap5c A G 17: 58,055,678 D342G probably damaging Het
Exoc1 A T 5: 76,567,023 H742L possibly damaging Het
Faah A T 4: 116,008,283 L69Q possibly damaging Het
Fbxw21 G A 9: 109,161,964 P9L probably damaging Het
Irak4 T A 15: 94,556,628 M218K probably benign Het
Kdm2a A T 19: 4,326,841 C235S probably damaging Het
Rab4a A G 8: 123,827,414 D29G probably damaging Het
Slc22a8 A G 19: 8,604,855 I133M possibly damaging Het
Wipi2 A G 5: 142,659,149 D170G probably damaging Het
Other mutations in Cep57l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Cep57l1 APN 10 41721551 intron probably benign
IGL00839:Cep57l1 APN 10 41731093 missense probably damaging 1.00
IGL01013:Cep57l1 APN 10 41740869 nonsense probably null
IGL01479:Cep57l1 APN 10 41728639 missense possibly damaging 0.95
IGL01830:Cep57l1 APN 10 41728653 missense probably benign 0.03
IGL02005:Cep57l1 APN 10 41740961 missense probably benign 0.39
IGL02679:Cep57l1 APN 10 41729386 missense probably damaging 1.00
IGL02697:Cep57l1 APN 10 41722954 missense possibly damaging 0.83
IGL03328:Cep57l1 APN 10 41743152 missense probably damaging 1.00
R2147:Cep57l1 UTSW 10 41740899 missense probably damaging 0.97
R3712:Cep57l1 UTSW 10 41743114 missense probably damaging 1.00
R4049:Cep57l1 UTSW 10 41729360 missense probably damaging 1.00
R4050:Cep57l1 UTSW 10 41729360 missense probably damaging 1.00
R4661:Cep57l1 UTSW 10 41719771 missense possibly damaging 0.91
R4764:Cep57l1 UTSW 10 41721682 missense possibly damaging 0.81
R4929:Cep57l1 UTSW 10 41745914 missense possibly damaging 0.93
R6058:Cep57l1 UTSW 10 41740922 missense possibly damaging 0.87
R6386:Cep57l1 UTSW 10 41743132 missense probably damaging 1.00
R6788:Cep57l1 UTSW 10 41743149 missense probably damaging 1.00
R7334:Cep57l1 UTSW 10 41721600 missense probably benign 0.00
R7724:Cep57l1 UTSW 10 41745842 missense possibly damaging 0.65
R7738:Cep57l1 UTSW 10 41740846 missense probably damaging 1.00
R7792:Cep57l1 UTSW 10 41722940 nonsense probably null
Posted On2012-12-06