Incidental Mutation 'R7738:Cep57l1'
ID 596378
Institutional Source Beutler Lab
Gene Symbol Cep57l1
Ensembl Gene ENSMUSG00000019813
Gene Name centrosomal protein 57-like 1
Synonyms 2410017P07Rik, 4930484D11Rik
MMRRC Submission 045794-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7738 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 41594836-41685867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41616842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 148 (E148D)
Ref Sequence ENSEMBL: ENSMUSP00000139509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000105505] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000189770] [ENSMUST00000190022] [ENSMUST00000191498]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019951
AA Change: E148D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: E148D

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: E148D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: E148D

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: E148D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: E148D

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: E148D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: E148D

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: ENSMUST00000189770
AA Change: E148D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: E148D

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: E72D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: E72D

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: E148D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: E148D

DomainStartEndE-ValueType
Pfam:Cep57_CLD 50 229 1.9e-65 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal1 T A 1: 6,459,728 (GRCm39) D101E probably benign Het
Ank2 C T 3: 126,741,271 (GRCm39) A1538T Het
Arhgap21 A G 2: 20,854,290 (GRCm39) S1701P probably damaging Het
Arhgap21 A G 2: 20,855,169 (GRCm39) Y1408H probably damaging Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Clstn1 A C 4: 149,719,811 (GRCm39) Q452P probably damaging Het
Csmd1 C A 8: 16,151,004 (GRCm39) R1437L probably damaging Het
Dcbld1 C T 10: 52,188,922 (GRCm39) T249I possibly damaging Het
Dsp A G 13: 38,369,151 (GRCm39) E749G probably damaging Het
Enox1 A C 14: 77,815,220 (GRCm39) N126T probably damaging Het
Fgfr1 T A 8: 26,048,201 (GRCm39) L99Q probably damaging Het
Fscn3 G A 6: 28,434,445 (GRCm39) R340Q probably benign Het
Glrb C T 3: 80,767,491 (GRCm39) C243Y probably damaging Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Has2 T C 15: 56,531,108 (GRCm39) K536E possibly damaging Het
Igtp A G 11: 58,097,906 (GRCm39) E359G probably benign Het
Kat14 A G 2: 144,236,162 (GRCm39) D509G probably damaging Het
Kbtbd2 C A 6: 56,756,722 (GRCm39) S338I possibly damaging Het
Mpdz A G 4: 81,253,986 (GRCm39) S1049P probably benign Het
Ncoa3 C T 2: 165,891,987 (GRCm39) A121V probably damaging Het
Nfatc4 A G 14: 56,069,414 (GRCm39) T647A possibly damaging Het
Nip7 T C 8: 107,783,997 (GRCm39) F79S probably damaging Het
Nrxn3 A C 12: 88,817,074 (GRCm39) E251D possibly damaging Het
Olig2 T C 16: 91,024,048 (GRCm39) I254T unknown Het
Or55b4 C A 7: 102,133,818 (GRCm39) V170F probably damaging Het
Or5ac16 G A 16: 59,022,318 (GRCm39) A157V probably benign Het
Ostf1 A T 19: 18,562,065 (GRCm39) L177* probably null Het
Pabpc2 A T 18: 39,907,319 (GRCm39) I195F possibly damaging Het
Pacs1 A T 19: 5,202,378 (GRCm39) M404K probably benign Het
Pcdh1 A G 18: 38,330,529 (GRCm39) S964P probably benign Het
Pcdhb3 T A 18: 37,436,012 (GRCm39) N659K probably benign Het
Pla2g6 A T 15: 79,181,633 (GRCm39) Y537* probably null Het
Plekhn1 G A 4: 156,316,691 (GRCm39) T330M probably damaging Het
Proc G A 18: 32,260,532 (GRCm39) R198* probably null Het
Rfx8 G T 1: 39,722,091 (GRCm39) T298K probably damaging Het
S1pr4 A C 10: 81,334,341 (GRCm39) S378A probably benign Het
Saxo5 T C 8: 3,533,525 (GRCm39) F277S probably damaging Het
Slfn2 T A 11: 82,960,799 (GRCm39) F259L probably damaging Het
Snx14 T C 9: 88,289,527 (GRCm39) T242A probably benign Het
Sptbn2 A G 19: 4,774,153 (GRCm39) N68S probably damaging Het
Tmem44 A T 16: 30,362,228 (GRCm39) S201T probably benign Het
Ttc3 A T 16: 94,188,241 (GRCm39) I177L probably benign Het
Vmn1r177 T C 7: 23,565,559 (GRCm39) T106A probably damaging Het
Vmn1r28 T C 6: 58,243,039 (GRCm39) M294T probably benign Het
Zfp518b G A 5: 38,829,530 (GRCm39) T825I probably benign Het
Zfp729b A T 13: 67,740,194 (GRCm39) N690K probably benign 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
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
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'- AAATGTTGGCCTAAACAGCAG -3'
(R):5'- TTTGCACCACGTGTATAACAAC -3'

Sequencing Primer
(F):5'- AGCAGAGTCTACCATTGCTG -3'
(R):5'- CACACAAAGTCACTTTAGCATTGGG -3'
Posted On 2019-11-26