Incidental Mutation 'R6386:Cep57l1'
ID 515610
Institutional Source Beutler Lab
Gene Symbol Cep57l1
Ensembl Gene ENSMUSG00000019813
Gene Name centrosomal protein 57-like 1
Synonyms 2410017P07Rik, 4930484D11Rik
MMRRC Submission 044535-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6386 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 41594836-41685867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41619128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 80 (S80T)
Ref Sequence ENSEMBL: ENSMUSP00000140147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000105505] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000189770] [ENSMUST00000191498] [ENSMUST00000190022]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019951
AA Change: S80T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: S80T

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: S80T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: S80T

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: S80T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: S80T

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: S80T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: S80T

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: ENSMUST00000188514
Predicted Effect probably damaging
Transcript: ENSMUST00000189770
AA Change: S80T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: S80T

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: ENSMUST00000191498
AA Change: S80T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: S80T

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 229 1.9e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215667
Predicted Effect probably benign
Transcript: ENSMUST00000190022
SMART Domains Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813

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
Meta Mutation Damage Score 0.0921 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak6 TGACGA TGA 13: 100,792,311 (GRCm39) probably benign Het
Arap2 A T 5: 62,761,865 (GRCm39) N1620K possibly damaging Het
Atf6b T C 17: 34,870,825 (GRCm39) S396P probably damaging Het
Cc2d1a A G 8: 84,865,166 (GRCm39) M469T probably damaging Het
Ceacam3 A G 7: 16,892,144 (GRCm39) N296D probably benign Het
Clip4 C A 17: 72,141,189 (GRCm39) Y514* probably null Het
Cop1 T C 1: 159,116,601 (GRCm39) I125T probably damaging Het
Cstf1 T C 2: 172,219,816 (GRCm39) V309A probably damaging Het
Cyp4a29 T G 4: 115,104,272 (GRCm39) probably null Het
F830045P16Rik G A 2: 129,314,738 (GRCm39) H180Y probably damaging Het
Foxp4 T C 17: 48,189,387 (GRCm39) K237E unknown Het
Fstl5 A T 3: 76,229,373 (GRCm39) H58L probably benign Het
Gje1 A G 10: 14,592,365 (GRCm39) F139S probably damaging Het
Gpatch1 T C 7: 34,991,265 (GRCm39) D593G probably damaging Het
Inpp5d T A 1: 87,627,397 (GRCm39) L566Q probably damaging Het
Mtch2 A G 2: 90,679,739 (GRCm39) T38A probably benign Het
Mvb12b A T 2: 33,717,754 (GRCm39) I129N probably damaging Het
Npffr2 T C 5: 89,730,556 (GRCm39) V162A probably benign Het
Or4d10b A T 19: 12,036,920 (GRCm39) N65K probably damaging Het
Or5p61 A T 7: 107,758,409 (GRCm39) Y224N probably damaging Het
Pkhd1 G A 1: 20,621,244 (GRCm39) R805C probably damaging Het
Ppp4r4 T C 12: 103,559,364 (GRCm39) L406P probably damaging Het
Prl3d2 A G 13: 27,311,286 (GRCm39) D186G probably damaging Het
Rfc5 T C 5: 117,523,463 (GRCm39) T112A probably benign Het
Rnf148 A G 6: 23,654,483 (GRCm39) L171P probably damaging Het
Rps24 G A 14: 24,542,116 (GRCm39) G71S possibly damaging Het
Slco2a1 G A 9: 102,954,187 (GRCm39) V453I probably benign Het
Spidr T C 16: 15,786,424 (GRCm39) K440E probably benign Het
Syndig1 C A 2: 149,741,496 (GRCm39) N27K probably damaging Het
Tmem62 C T 2: 120,829,595 (GRCm39) T316I probably benign Het
Tpgs2 A T 18: 25,272,081 (GRCm39) I258N possibly damaging Het
Vmn2r78 A T 7: 86,571,545 (GRCm39) R452* probably null Het
Wasf3 A T 5: 146,390,227 (GRCm39) I124F possibly damaging Het
Wbp11 T C 6: 136,797,523 (GRCm39) T299A probably benign Het
Wdr25 T C 12: 108,990,991 (GRCm39) S41P probably damaging Het
Zfp874b T C 13: 67,622,962 (GRCm39) D116G possibly damaging Het
Other mutations in Cep57l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Cep57l1 APN 10 41,597,547 (GRCm39) intron probably benign
IGL00679:Cep57l1 APN 10 41,595,796 (GRCm39) nonsense probably null
IGL00839:Cep57l1 APN 10 41,607,089 (GRCm39) missense probably damaging 1.00
IGL01013:Cep57l1 APN 10 41,616,865 (GRCm39) nonsense probably null
IGL01479:Cep57l1 APN 10 41,604,635 (GRCm39) missense possibly damaging 0.95
IGL01830:Cep57l1 APN 10 41,604,649 (GRCm39) missense probably benign 0.03
IGL02005:Cep57l1 APN 10 41,616,957 (GRCm39) missense probably benign 0.39
IGL02679:Cep57l1 APN 10 41,605,382 (GRCm39) missense probably damaging 1.00
IGL02697:Cep57l1 APN 10 41,598,950 (GRCm39) missense possibly damaging 0.83
IGL03328:Cep57l1 APN 10 41,619,148 (GRCm39) missense probably damaging 1.00
R2147:Cep57l1 UTSW 10 41,616,895 (GRCm39) missense probably damaging 0.97
R3712:Cep57l1 UTSW 10 41,619,110 (GRCm39) missense probably damaging 1.00
R4049:Cep57l1 UTSW 10 41,605,356 (GRCm39) missense probably damaging 1.00
R4050:Cep57l1 UTSW 10 41,605,356 (GRCm39) missense probably damaging 1.00
R4661:Cep57l1 UTSW 10 41,595,767 (GRCm39) missense possibly damaging 0.91
R4764:Cep57l1 UTSW 10 41,597,678 (GRCm39) missense possibly damaging 0.81
R4929:Cep57l1 UTSW 10 41,621,910 (GRCm39) missense possibly damaging 0.93
R6058:Cep57l1 UTSW 10 41,616,918 (GRCm39) missense possibly damaging 0.87
R6788:Cep57l1 UTSW 10 41,619,145 (GRCm39) missense probably damaging 1.00
R7334:Cep57l1 UTSW 10 41,597,596 (GRCm39) missense probably benign 0.00
R7724:Cep57l1 UTSW 10 41,621,838 (GRCm39) missense possibly damaging 0.65
R7738:Cep57l1 UTSW 10 41,616,842 (GRCm39) missense probably damaging 1.00
R7792:Cep57l1 UTSW 10 41,598,936 (GRCm39) nonsense probably null
R8191:Cep57l1 UTSW 10 41,616,955 (GRCm39) missense probably damaging 1.00
R9026:Cep57l1 UTSW 10 41,607,086 (GRCm39) missense probably damaging 1.00
R9289:Cep57l1 UTSW 10 41,607,082 (GRCm39) missense probably damaging 0.98
R9614:Cep57l1 UTSW 10 41,597,563 (GRCm39) missense probably damaging 0.99
R9643:Cep57l1 UTSW 10 41,597,626 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTTCTATGACAGAAGAGCAGAG -3'
(R):5'- GGTTACTGGTAAGCAAACGTG -3'

Sequencing Primer
(F):5'- GCAGAGGCAGCTGAGGC -3'
(R):5'- AAACGTGCCCTGCTCCTG -3'
Posted On 2018-05-04