Incidental Mutation 'R0377:Cep55'
ID 30833
Institutional Source Beutler Lab
Gene Symbol Cep55
Ensembl Gene ENSMUSG00000024989
Gene Name centrosomal protein 55
Synonyms 1200008O12Rik, 2700032M20Rik
MMRRC Submission 038583-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R0377 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 38043459-38062871 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 38060337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 396 (L396*)
Ref Sequence ENSEMBL: ENSMUSP00000127961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096096] [ENSMUST00000116506] [ENSMUST00000169673]
AlphaFold Q8BT07
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082712
Predicted Effect probably null
Transcript: ENSMUST00000096096
AA Change: L396*
SMART Domains Protein: ENSMUSP00000093802
Gene: ENSMUSG00000024989
AA Change: L396*

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
coiled coil region 98 150 N/A INTRINSIC
Pfam:EABR 171 205 1.2e-22 PFAM
coiled coil region 229 395 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000116506
AA Change: L396*
SMART Domains Protein: ENSMUSP00000112205
Gene: ENSMUSG00000024989
AA Change: L396*

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
coiled coil region 98 150 N/A INTRINSIC
Pfam:EABR 171 205 1.2e-22 PFAM
coiled coil region 229 371 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169673
AA Change: L396*
SMART Domains Protein: ENSMUSP00000127961
Gene: ENSMUSG00000024989
AA Change: L396*

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
coiled coil region 98 150 N/A INTRINSIC
Pfam:EABR 171 204 8.6e-22 PFAM
coiled coil region 229 395 N/A INTRINSIC
Meta Mutation Damage Score 0.9701 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 97% (67/69)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 C A 11: 94,265,922 (GRCm39) V107F possibly damaging Het
Acad11 T A 9: 103,958,891 (GRCm39) probably benign Het
Ache G A 5: 137,289,190 (GRCm39) E299K possibly damaging Het
Adam5 T C 8: 25,237,557 (GRCm39) T618A probably benign Het
Amigo2 T A 15: 97,144,261 (GRCm39) T54S possibly damaging Het
Anapc1 A G 2: 128,483,260 (GRCm39) probably null Het
Btaf1 A G 19: 36,966,402 (GRCm39) K1057E probably benign Het
Cic C A 7: 24,985,224 (GRCm39) H1157N probably damaging Het
Cntnap5a A T 1: 116,220,259 (GRCm39) T690S probably benign Het
D5Ertd579e A T 5: 36,761,911 (GRCm39) C1319S probably benign Het
Dnah6 A G 6: 73,098,975 (GRCm39) S2027P possibly damaging Het
Dnai4 A G 4: 102,905,456 (GRCm39) V775A probably damaging Het
Dntt G A 19: 41,036,066 (GRCm39) W369* probably null Het
Esp18 T A 17: 39,720,835 (GRCm39) W27R probably benign Het
Fam227b A T 2: 125,966,920 (GRCm39) probably benign Het
Fbxo31 G A 8: 122,285,841 (GRCm39) probably benign Het
Gm13547 G A 2: 29,651,803 (GRCm39) probably null Het
Gnl2 T A 4: 124,940,175 (GRCm39) probably benign Het
Gpx2 G A 12: 76,841,930 (GRCm39) Q74* probably null Het
Gucy2c A G 6: 136,727,915 (GRCm39) probably null Het
Hoxa5 A T 6: 52,179,626 (GRCm39) W250R probably damaging Het
Izumo4 G A 10: 80,538,674 (GRCm39) R42H probably damaging Het
Kcnj12 G A 11: 60,960,222 (GRCm39) M71I probably benign Het
Kmt2b A T 7: 30,273,618 (GRCm39) L2333Q probably damaging Het
Mak T C 13: 41,202,824 (GRCm39) E177G probably damaging Het
Map3k7 T A 4: 31,985,731 (GRCm39) I218N probably damaging Het
Mark3 T C 12: 111,595,463 (GRCm39) L393P probably damaging Het
Msh4 A G 3: 153,602,527 (GRCm39) S234P probably benign Het
Mug1 A G 6: 121,834,320 (GRCm39) D367G probably benign Het
Mypn A G 10: 62,963,401 (GRCm39) probably benign Het
Ncapg T C 5: 45,851,159 (GRCm39) V784A probably benign Het
Nutf2 T A 8: 106,605,504 (GRCm39) V113D probably damaging Het
Odad2 G A 18: 7,127,415 (GRCm39) R933C probably benign Het
Opn3 T C 1: 175,491,260 (GRCm39) M258V probably damaging Het
Or8k33 A T 2: 86,383,927 (GRCm39) D180E probably damaging Het
Osbpl7 A G 11: 96,946,760 (GRCm39) D211G probably damaging Het
Pcnx1 C T 12: 82,021,353 (GRCm39) probably benign Het
Plekhd1 G A 12: 80,753,210 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,591,501 (GRCm39) E1165G probably damaging Het
Prkab2 T A 3: 97,569,633 (GRCm39) D66E probably benign Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Ptpn23 A T 9: 110,217,200 (GRCm39) S885R possibly damaging Het
Rab26 A T 17: 24,749,019 (GRCm39) probably benign Het
Rab5a G A 17: 53,807,490 (GRCm39) M175I probably benign Het
Rassf9 T A 10: 102,381,510 (GRCm39) D297E probably benign Het
Rimbp2 C T 5: 128,880,925 (GRCm39) R161Q probably damaging Het
Rtp1 A G 16: 23,250,034 (GRCm39) Y133C probably damaging Het
Sdr16c5 G A 4: 4,005,546 (GRCm39) L263F probably benign Het
Sec14l1 T G 11: 117,039,966 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spaca1 T C 4: 34,044,267 (GRCm39) probably null Het
Stk36 C T 1: 74,651,889 (GRCm39) P394L probably benign Het
Stk4 T C 2: 163,938,720 (GRCm39) I196T probably damaging Het
Sult1b1 A T 5: 87,665,235 (GRCm39) M233K probably damaging Het
Tmem8b C T 4: 43,674,005 (GRCm39) T212M probably damaging Het
Tmprss11g A T 5: 86,638,610 (GRCm39) F293I probably damaging Het
Tnfsf11 T G 14: 78,537,352 (GRCm39) T104P probably benign Het
Trmt2a G A 16: 18,067,567 (GRCm39) R80Q possibly damaging Het
Trps1 C A 15: 50,695,174 (GRCm39) E324* probably null Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Wdr18 G A 10: 79,803,336 (GRCm39) R400H probably benign Het
Zfp119b T A 17: 56,245,671 (GRCm39) H505L probably damaging Het
Zfp619 T A 7: 39,186,221 (GRCm39) C750* probably null Het
Zfr T C 15: 12,160,677 (GRCm39) I750T probably benign Het
Other mutations in Cep55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Cep55 APN 19 38,061,887 (GRCm39) missense probably damaging 1.00
IGL02359:Cep55 APN 19 38,058,316 (GRCm39) missense probably damaging 1.00
R0079:Cep55 UTSW 19 38,048,769 (GRCm39) missense probably benign 0.04
R0308:Cep55 UTSW 19 38,048,659 (GRCm39) missense possibly damaging 0.94
R0725:Cep55 UTSW 19 38,048,622 (GRCm39) missense possibly damaging 0.48
R0736:Cep55 UTSW 19 38,061,765 (GRCm39) missense probably benign 0.21
R1842:Cep55 UTSW 19 38,046,348 (GRCm39) missense probably benign 0.09
R2196:Cep55 UTSW 19 38,057,558 (GRCm39) missense probably damaging 1.00
R2227:Cep55 UTSW 19 38,051,082 (GRCm39) missense probably benign 0.37
R3832:Cep55 UTSW 19 38,041,560 (GRCm39) unclassified probably benign
R4936:Cep55 UTSW 19 38,060,202 (GRCm39) splice site probably null
R4938:Cep55 UTSW 19 38,058,364 (GRCm39) missense probably damaging 1.00
R5246:Cep55 UTSW 19 38,058,119 (GRCm39) missense probably benign 0.39
R5628:Cep55 UTSW 19 38,058,396 (GRCm39) nonsense probably null
R5774:Cep55 UTSW 19 38,051,103 (GRCm39) missense probably damaging 1.00
R6708:Cep55 UTSW 19 38,048,709 (GRCm39) missense probably benign 0.23
R6787:Cep55 UTSW 19 38,046,374 (GRCm39) missense probably benign 0.01
R7047:Cep55 UTSW 19 38,048,539 (GRCm39) missense possibly damaging 0.65
R7187:Cep55 UTSW 19 38,048,806 (GRCm39) critical splice donor site probably null
R7473:Cep55 UTSW 19 38,058,384 (GRCm39) missense probably damaging 0.99
R7762:Cep55 UTSW 19 38,057,517 (GRCm39) splice site probably null
R7863:Cep55 UTSW 19 38,046,247 (GRCm39) start gained probably benign
R9030:Cep55 UTSW 19 38,059,592 (GRCm39) critical splice donor site probably null
R9555:Cep55 UTSW 19 38,059,592 (GRCm39) critical splice donor site probably null
X0023:Cep55 UTSW 19 38,060,315 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCAGCAACTTCTTAAGCTGCCTTC -3'
(R):5'- ACAGTGTGACCCATTTCAGTGCC -3'

Sequencing Primer
(F):5'- CAGTGTTTGAGCCATAAACGTC -3'
(R):5'- CATTTCAGTGCCAGCACG -3'
Posted On 2013-04-24