Incidental Mutation 'R7334:Cep57l1'
ID 569381
Institutional Source Beutler Lab
Gene Symbol Cep57l1
Ensembl Gene ENSMUSG00000019813
Gene Name centrosomal protein 57-like 1
Synonyms 2410017P07Rik, 4930484D11Rik
MMRRC Submission 045371-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7334 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 41594836-41685867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41597596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 345 (S345I)
Ref Sequence ENSEMBL: ENSMUSP00000139509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000105505] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000189488] [ENSMUST00000189770] [ENSMUST00000190022] [ENSMUST00000191498]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019951
AA Change: S345I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: S345I

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
AA Change: S316I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: S316I

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 223 1.1e-66 PFAM
Pfam:Cep57_MT_bd 252 327 6.8e-22 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000186239
AA Change: S345I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: S345I

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
AA Change: S316I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: S316I

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 benign
Transcript: ENSMUST00000189770
AA Change: S316I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: S316I

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: ENSMUST00000190022
AA Change: S269I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: S269I

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,380 (GRCm39) C184S probably damaging Het
Acadm G T 3: 153,644,698 (GRCm39) S9* probably null Het
Acot10 C T 15: 20,665,629 (GRCm39) V371I possibly damaging Het
Adam8 T C 7: 139,568,903 (GRCm39) E199G probably damaging Het
Aldh18a1 A T 19: 40,539,696 (GRCm39) W762R probably damaging Het
Aldh1a1 T A 19: 20,599,075 (GRCm39) V162E probably damaging Het
Alms1 A G 6: 85,618,432 (GRCm39) D2357G probably damaging Het
Arfgef1 G T 1: 10,254,685 (GRCm39) Q718K probably damaging Het
Arid5b A C 10: 68,079,007 (GRCm39) V110G possibly damaging Het
Bpifb3 T A 2: 153,761,654 (GRCm39) D34E probably damaging Het
Cacfd1 C T 2: 26,905,558 (GRCm39) A85V possibly damaging Het
Cibar2 T C 8: 120,901,589 (GRCm39) T39A probably damaging Het
Clca3b G A 3: 144,542,417 (GRCm39) R462* probably null Het
Cyp26c1 G A 19: 37,677,323 (GRCm39) V251I probably benign Het
Dip2a A G 10: 76,110,080 (GRCm39) S1179P possibly damaging Het
Dnal1 T C 12: 84,173,780 (GRCm39) L27P probably damaging Het
Dock7 A G 4: 98,864,180 (GRCm39) V1288A unknown Het
Elmod1 A T 9: 53,841,508 (GRCm39) probably null Het
Epb41l5 T G 1: 119,551,679 (GRCm39) K102T probably damaging Het
Fermt3 T C 19: 6,980,406 (GRCm39) I358V probably benign Het
Frmd3 A G 4: 74,079,955 (GRCm39) I316V probably benign Het
Fryl T C 5: 73,204,839 (GRCm39) probably null Het
Gm4131 T A 14: 62,702,356 (GRCm39) H204L possibly damaging Het
Hmcn2 G A 2: 31,325,806 (GRCm39) G4278R probably damaging Het
Hmcn2 A G 2: 31,343,147 (GRCm39) S4558G possibly damaging Het
Igkv1-132 A G 6: 67,737,108 (GRCm39) T25A probably benign Het
Kcp T C 6: 29,485,511 (GRCm39) E1161G probably damaging Het
Macf1 A T 4: 123,293,235 (GRCm39) I5371K probably damaging Het
Malrd1 T A 2: 16,011,529 (GRCm39) C1670S probably damaging Het
Mfsd13a T A 19: 46,356,809 (GRCm39) V270E probably damaging Het
Mroh1 A G 15: 76,311,838 (GRCm39) I524V probably benign Het
Mta1 T C 12: 113,090,418 (GRCm39) S175P possibly damaging Het
Myo7a C T 7: 97,728,573 (GRCm39) R800H probably benign Het
Ncald T A 15: 37,397,524 (GRCm39) Y52F probably damaging Het
Nherf1 C T 11: 115,054,593 (GRCm39) A81V possibly damaging Het
Nomo1 T C 7: 45,732,692 (GRCm39) S1152P probably damaging Het
Nr3c1 A G 18: 39,620,090 (GRCm39) F66L probably benign Het
Nrf1 T C 6: 30,118,970 (GRCm39) L363S probably benign Het
Or4n4 C A 14: 50,519,036 (GRCm39) V225F probably benign Het
Or8b12b A T 9: 37,684,293 (GRCm39) I113F probably damaging Het
Osbpl3 A G 6: 50,321,886 (GRCm39) M300T possibly damaging Het
Parpbp T A 10: 87,947,617 (GRCm39) N339I probably damaging Het
Pdlim5 A T 3: 141,950,678 (GRCm39) H578Q probably damaging Het
Pear1 T C 3: 87,657,532 (GRCm39) N1009S probably damaging Het
Pnpla8 A G 12: 44,358,286 (GRCm39) I745M probably damaging Het
Pom121l12 C A 11: 14,549,681 (GRCm39) T129K probably damaging Het
Ppp1r14a T C 7: 28,992,687 (GRCm39) S130P probably damaging Het
Prss12 A C 3: 123,280,780 (GRCm39) L488F probably benign Het
Psd3 C T 8: 68,361,357 (GRCm39) V559I possibly damaging Het
Rrh T C 3: 129,602,631 (GRCm39) T364A probably benign Het
Shcbp1 A T 8: 4,791,876 (GRCm39) M479K probably damaging Het
Shcbp1 A C 8: 4,804,310 (GRCm39) F200C probably damaging Het
Slx1b G T 7: 126,291,699 (GRCm39) R122S probably damaging Het
Spata31f1e G A 4: 42,793,856 (GRCm39) T92I possibly damaging Het
Spidr A G 16: 15,932,689 (GRCm39) probably null Het
St18 G A 1: 6,872,783 (GRCm39) D173N probably benign Het
Stambpl1 T C 19: 34,204,048 (GRCm39) I46T probably damaging Het
Syne1 C T 10: 5,007,886 (GRCm39) D113N probably damaging Het
Tg G A 15: 66,597,121 (GRCm39) V1741I probably benign Het
Thsd7b T A 1: 130,123,012 (GRCm39) W1544R probably benign Het
Tiam2 G A 17: 3,553,283 (GRCm39) R1120H possibly damaging Het
Tinag A T 9: 76,908,931 (GRCm39) C337S probably damaging Het
Tm4sf1 G C 3: 57,200,510 (GRCm39) A64G probably damaging Het
Tmprss6 A G 15: 78,328,017 (GRCm39) Y572H unknown Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Txndc11 A G 16: 10,946,425 (GRCm39) Y129H probably damaging Het
Ube3b T C 5: 114,553,742 (GRCm39) F974S possibly damaging Het
Utrn C A 10: 12,603,753 (GRCm39) probably null Het
Vmn1r58 T A 7: 5,414,066 (GRCm39) M55L probably benign Het
Vnn1 T A 10: 23,776,658 (GRCm39) S336R probably benign Het
Wwc2 T C 8: 48,322,829 (GRCm39) Y424C unknown Het
Zfp507 T C 7: 35,475,505 (GRCm39) I903V probably damaging Het
Zfp551 C T 7: 12,150,681 (GRCm39) G243R probably damaging Het
Zfp60 T A 7: 27,448,444 (GRCm39) C371S probably 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
R6386:Cep57l1 UTSW 10 41,619,128 (GRCm39) missense probably damaging 1.00
R6788:Cep57l1 UTSW 10 41,619,145 (GRCm39) missense probably damaging 1.00
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'- GGGCTGTCATTACACACAGTG -3'
(R):5'- GTATTGCGCTGAGAACCTGC -3'

Sequencing Primer
(F):5'- GTGGCTCTCTGTAAGACACTCAAG -3'
(R):5'- CCAGGCACAGATGTCCTCTCTG -3'
Posted On 2019-09-13