Incidental Mutation 'IGL01479:Cep57l1'
ID 88541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep57l1
Ensembl Gene ENSMUSG00000019813
Gene Name centrosomal protein 57-like 1
Synonyms 4930484D11Rik, 2410017P07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01479
Quality Score
Status
Chromosome 10
Chromosomal Location 41718840-41809871 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41728639 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 165 (K165E)
Ref Sequence ENSEMBL: ENSMUSP00000141031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000105505] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000189770] [ENSMUST00000190022] [ENSMUST00000191498]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000019951
AA Change: K241E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: K241E

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 benign
Transcript: ENSMUST00000105505
SMART Domains Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186239
AA Change: K241E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: K241E

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 benign
Transcript: ENSMUST00000187143
SMART Domains Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813

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 benign
Transcript: ENSMUST00000189770
SMART Domains Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190022
AA Change: K165E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: K165E

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,272,935 K225R probably benign Het
Amn C A 12: 111,271,793 A47E probably damaging Het
Arhgef1 T C 7: 24,912,603 I137T probably benign Het
Chfr A G 5: 110,144,993 probably benign Het
Dnah9 A G 11: 65,955,717 V2923A probably benign Het
Dnaja2 T C 8: 85,553,951 Y35C probably damaging Het
Dnajc2 T C 5: 21,757,893 T481A probably damaging Het
Foxred2 A G 15: 77,952,289 probably null Het
Gin1 C T 1: 97,792,372 T364I possibly damaging Het
Glt8d2 C T 10: 82,660,736 V163I probably damaging Het
Gm10118 T C 10: 63,926,820 probably benign Het
Hps5 C T 7: 46,762,942 probably null Het
Kdm4c A G 4: 74,343,501 K638E probably benign Het
L3mbtl2 A G 15: 81,676,392 T285A probably benign Het
Mab21l1 A G 3: 55,783,832 Y280C probably damaging Het
Mcoln2 T A 3: 146,175,652 probably benign Het
Myo9b G T 8: 71,359,342 R1926L probably damaging Het
Rrp12 A G 19: 41,865,202 V1251A probably benign Het
Rtn4rl1 A G 11: 75,265,342 D200G probably damaging Het
Sbsn G A 7: 30,752,357 A266T possibly damaging Het
Sgca A T 11: 94,963,378 C335* probably null Het
Spag1 T C 15: 36,233,199 probably benign Het
Sult6b1 A T 17: 78,905,576 V82D probably benign Het
Tigit T C 16: 43,659,522 T137A probably benign Het
Tmem125 G A 4: 118,541,623 Q204* probably null Het
Tmem59l C T 8: 70,486,098 R111Q probably benign Het
Vmn2r95 G A 17: 18,443,862 G448R probably damaging Het
Zfp64 T C 2: 168,951,679 H49R probably 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
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
R8191:Cep57l1 UTSW 10 41740959 missense probably damaging 1.00
R9026:Cep57l1 UTSW 10 41731090 missense probably damaging 1.00
R9289:Cep57l1 UTSW 10 41731086 missense probably damaging 0.98
Posted On 2013-11-18