Incidental Mutation 'IGL02679:Cep57l1'
ID303304
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? Possibly non essential (E-score: 0.290) question?
Stock #IGL02679
Quality Score
Status
Chromosome10
Chromosomal Location41718840-41809871 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41729386 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 121 (E121G)
Ref Sequence ENSEMBL: ENSMUSP00000141031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000105505] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000189770] [ENSMUST00000190022] [ENSMUST00000191498]
Predicted Effect probably damaging
Transcript: ENSMUST00000019951
AA Change: E197G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: E197G

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 damaging
Transcript: ENSMUST00000105505
AA Change: E197G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: E197G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186239
AA Change: E197G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: E197G

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 damaging
Transcript: ENSMUST00000187143
AA Change: E197G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: E197G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188463
Predicted Effect probably damaging
Transcript: ENSMUST00000189770
AA Change: E197G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: E197G

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190022
AA Change: E121G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: E121G

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 damaging
Transcript: ENSMUST00000191498
AA Change: E197G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: E197G

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,182,979 probably benign Het
Adam5 A T 8: 24,806,526 Y302N probably damaging Het
Ankrd34c A T 9: 89,730,079 Y70N probably damaging Het
Asph G A 4: 9,601,349 P190S possibly damaging Het
Atp6v1h T C 1: 5,124,302 C235R probably damaging Het
Brwd1 A G 16: 96,002,823 L2049P probably benign Het
Capn2 T A 1: 182,472,584 I614F probably benign Het
Ccdc126 T A 6: 49,334,061 M1K probably null Het
Cdh9 T C 15: 16,832,230 I401T probably damaging Het
Cfap46 A G 7: 139,614,470 I2276T probably damaging Het
Cnnm3 T C 1: 36,520,158 S490P probably benign Het
D430041D05Rik C T 2: 104,230,305 V731I possibly damaging Het
Fgf3 C A 7: 144,840,750 N100K probably damaging Het
Gas7 G A 11: 67,675,727 probably null Het
Gfm1 C T 3: 67,474,767 P725S possibly damaging Het
Gimap4 T A 6: 48,690,495 C61* probably null Het
Greb1 C T 12: 16,708,723 R664Q probably damaging Het
Kpnb1 T A 11: 97,177,260 I295F possibly damaging Het
Lamc3 A G 2: 31,945,398 E1577G probably benign Het
Lrrk1 C T 7: 66,274,872 V235M probably damaging Het
Mipol1 T A 12: 57,306,043 V56E possibly damaging Het
Mycbp2 T C 14: 103,205,185 I1927V probably benign Het
Ncaph A T 2: 127,124,864 N223K possibly damaging Het
Nipbl A G 15: 8,295,553 M2542T probably benign Het
Nolc1 C A 19: 46,083,029 probably benign Het
Olfr16 G A 1: 172,957,176 C127Y probably damaging Het
Olfr555 A G 7: 102,659,177 M119V possibly damaging Het
Pkhd1l1 T C 15: 44,530,045 probably null Het
Ppat A T 5: 76,919,469 C306S probably benign Het
Ptpn13 A T 5: 103,569,454 M1821L possibly damaging Het
Rabl3 C T 16: 37,541,925 S42L probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfx3 G A 19: 27,849,737 H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 M312V possibly damaging Het
Slc10a2 T A 8: 5,098,499 T149S probably damaging Het
Spata21 T C 4: 141,111,265 probably benign Het
Stx8 G T 11: 67,969,772 W6C probably damaging Het
Tcn2 T C 11: 3,927,504 E48G possibly damaging Het
Tctex1d2 T C 16: 32,425,307 V107A possibly damaging Het
Tecpr1 A T 5: 144,206,546 N670K probably benign Het
Tldc1 A T 8: 119,772,410 D114E probably benign Het
Tmem255b G A 8: 13,457,055 M240I probably benign Het
Ubr4 G A 4: 139,459,134 E651K probably damaging Het
Ubr5 T C 15: 38,002,314 T1498A probably benign Het
Vmn2r95 G A 17: 18,443,854 C445Y probably damaging Het
Zfp429 T A 13: 67,399,736 probably benign Het
Zfp804b T G 5: 6,771,392 D557A possibly damaging Het
Other mutations in Cep57l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Cep57l1 APN 10 41721551 intron probably benign
IGL00679:Cep57l1 APN 10 41719800 nonsense probably null
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
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
Posted On2015-04-16