Incidental Mutation 'R1351:Cep126'
ID 156663
Institutional Source Beutler Lab
Gene Symbol Cep126
Ensembl Gene ENSMUSG00000040729
Gene Name centrosomal protein 126
Synonyms AK129341
MMRRC Submission 039416-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1351 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 8076462-8134295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8100087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 816 (E816K)
Ref Sequence ENSEMBL: ENSMUSP00000042904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037397]
AlphaFold Q0VBV7
Predicted Effect probably damaging
Transcript: ENSMUST00000037397
AA Change: E816K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: E816K

DomainStartEndE-ValueType
low complexity region 6 36 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
Pfam:K1377 100 1061 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214150
Meta Mutation Damage Score 0.1095 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef26 A G 3: 62,288,262 (GRCm39) E444G probably damaging Het
Astl G A 2: 127,189,105 (GRCm39) V144M possibly damaging Het
AW146154 A T 7: 41,129,878 (GRCm39) C413S probably damaging Het
Bicdl2 G A 17: 23,886,519 (GRCm39) probably benign Het
Cacna1h G T 17: 25,610,925 (GRCm39) S624R probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cyp2j13 T C 4: 95,945,155 (GRCm39) K291R probably benign Het
Defb26 A T 2: 152,349,737 (GRCm39) M181K unknown Het
Dicer1 G A 12: 104,695,401 (GRCm39) R177C probably damaging Het
Eif4g2 A G 7: 110,673,287 (GRCm39) Y831H probably damaging Het
Ermap C T 4: 119,038,558 (GRCm39) probably null Het
Fcamr C T 1: 130,740,757 (GRCm39) T392I possibly damaging Het
Fgf3 T C 7: 144,394,517 (GRCm39) probably benign Het
Gpr162 T C 6: 124,838,161 (GRCm39) Y163C probably damaging Het
Gprc5d T C 6: 135,093,230 (GRCm39) R226G possibly damaging Het
Hapln3 A C 7: 78,771,708 (GRCm39) S60R probably damaging Het
Hif1a T C 12: 73,987,235 (GRCm39) S443P probably benign Het
Irf2bpl A G 12: 86,929,398 (GRCm39) M425T probably benign Het
Lrrc39 G T 3: 116,359,469 (GRCm39) A5S possibly damaging Het
Mbtps1 A G 8: 120,244,901 (GRCm39) L850S possibly damaging Het
Mios T A 6: 8,228,120 (GRCm39) M679K possibly damaging Het
Mocos T C 18: 24,793,107 (GRCm39) F68S probably damaging Het
Nuf2 T C 1: 169,338,118 (GRCm39) probably benign Het
Or51k1 A G 7: 103,661,523 (GRCm39) Y129H possibly damaging Het
Orc1 T A 4: 108,452,564 (GRCm39) D146E probably benign Het
Pcdhb22 T C 18: 37,651,627 (GRCm39) F32L probably benign Het
Pde4d G T 13: 110,087,809 (GRCm39) E562D possibly damaging Het
Pgk2 T C 17: 40,518,691 (GRCm39) K246E probably damaging Het
Plekhh2 A T 17: 84,884,574 (GRCm39) probably benign Het
Pou3f2 A T 4: 22,487,162 (GRCm39) C324S probably damaging Het
Prkdc C T 16: 15,485,564 (GRCm39) L464F possibly damaging Het
Prrc2a T C 17: 35,376,863 (GRCm39) H749R possibly damaging Het
Rad18 T C 6: 112,597,863 (GRCm39) N218S possibly damaging Het
Rbm11 T C 16: 75,393,531 (GRCm39) Y76H possibly damaging Het
Rif1 T G 2: 52,001,567 (GRCm39) Y1674D possibly damaging Het
Rrp1b A G 17: 32,275,611 (GRCm39) H386R possibly damaging Het
Sacs T C 14: 61,440,210 (GRCm39) V752A probably benign Het
Sema3c A G 5: 17,883,334 (GRCm39) D314G possibly damaging Het
Spata2l G A 8: 123,960,072 (GRCm39) R406C probably damaging Het
Tacc2 C T 7: 130,264,733 (GRCm39) probably benign Het
Tent4b C A 8: 88,927,002 (GRCm39) Y137* probably null Het
Trpc4 A G 3: 54,102,423 (GRCm39) E107G probably damaging Het
Vmn2r70 A G 7: 85,214,262 (GRCm39) S297P probably damaging Het
Xdh A G 17: 74,230,073 (GRCm39) I286T probably benign Het
Zfp608 T C 18: 55,031,463 (GRCm39) T826A probably benign Het
Zfp646 T A 7: 127,482,683 (GRCm39) V1620E probably benign Het
Zfyve28 T G 5: 34,389,549 (GRCm39) D217A probably damaging Het
Zmym6 G A 4: 127,016,798 (GRCm39) G768R probably benign Het
Other mutations in Cep126
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Cep126 APN 9 8,103,320 (GRCm39) missense possibly damaging 0.57
IGL01967:Cep126 APN 9 8,095,209 (GRCm39) splice site probably null
IGL02065:Cep126 APN 9 8,099,925 (GRCm39) missense probably benign 0.09
IGL03215:Cep126 APN 9 8,100,531 (GRCm39) nonsense probably null
R0064:Cep126 UTSW 9 8,130,183 (GRCm39) splice site probably benign
R0064:Cep126 UTSW 9 8,130,183 (GRCm39) splice site probably benign
R0184:Cep126 UTSW 9 8,103,396 (GRCm39) missense probably benign 0.19
R0835:Cep126 UTSW 9 8,130,224 (GRCm39) missense probably damaging 1.00
R0980:Cep126 UTSW 9 8,100,720 (GRCm39) missense probably damaging 0.99
R1288:Cep126 UTSW 9 8,112,182 (GRCm39) missense probably benign 0.01
R1341:Cep126 UTSW 9 8,099,777 (GRCm39) missense possibly damaging 0.78
R1484:Cep126 UTSW 9 8,100,554 (GRCm39) missense possibly damaging 0.81
R1707:Cep126 UTSW 9 8,100,383 (GRCm39) missense probably benign 0.00
R1732:Cep126 UTSW 9 8,099,762 (GRCm39) missense probably benign
R1903:Cep126 UTSW 9 8,120,748 (GRCm39) missense possibly damaging 0.58
R1968:Cep126 UTSW 9 8,100,909 (GRCm39) missense probably damaging 1.00
R2216:Cep126 UTSW 9 8,120,679 (GRCm39) missense probably damaging 1.00
R2260:Cep126 UTSW 9 8,101,749 (GRCm39) missense possibly damaging 0.50
R2444:Cep126 UTSW 9 8,101,307 (GRCm39) missense probably damaging 1.00
R4208:Cep126 UTSW 9 8,100,822 (GRCm39) missense probably damaging 1.00
R4499:Cep126 UTSW 9 8,101,589 (GRCm39) missense possibly damaging 0.80
R4585:Cep126 UTSW 9 8,103,338 (GRCm39) missense probably damaging 0.99
R5547:Cep126 UTSW 9 8,100,428 (GRCm39) missense probably damaging 0.97
R5752:Cep126 UTSW 9 8,120,746 (GRCm39) nonsense probably null
R5794:Cep126 UTSW 9 8,103,440 (GRCm39) missense possibly damaging 0.64
R5932:Cep126 UTSW 9 8,103,509 (GRCm39) missense probably damaging 1.00
R5956:Cep126 UTSW 9 8,112,120 (GRCm39) missense probably benign 0.08
R6354:Cep126 UTSW 9 8,099,928 (GRCm39) missense probably damaging 1.00
R6442:Cep126 UTSW 9 8,100,564 (GRCm39) missense probably benign 0.14
R6964:Cep126 UTSW 9 8,112,101 (GRCm39) missense probably null 0.99
R7134:Cep126 UTSW 9 8,103,383 (GRCm39) missense probably damaging 1.00
R7161:Cep126 UTSW 9 8,087,400 (GRCm39) missense probably benign 0.02
R7221:Cep126 UTSW 9 8,100,988 (GRCm39) nonsense probably null
R7338:Cep126 UTSW 9 8,099,799 (GRCm39) missense possibly damaging 0.50
R7345:Cep126 UTSW 9 8,099,817 (GRCm39) missense probably damaging 1.00
R7473:Cep126 UTSW 9 8,101,779 (GRCm39) missense probably damaging 1.00
R7860:Cep126 UTSW 9 8,120,749 (GRCm39) missense probably damaging 1.00
R7974:Cep126 UTSW 9 8,120,764 (GRCm39) missense probably benign 0.37
R8150:Cep126 UTSW 9 8,101,791 (GRCm39) missense probably benign 0.04
R8204:Cep126 UTSW 9 8,120,781 (GRCm39) missense probably damaging 1.00
R8699:Cep126 UTSW 9 8,087,362 (GRCm39) missense probably damaging 1.00
R8858:Cep126 UTSW 9 8,130,270 (GRCm39) missense probably benign
R9064:Cep126 UTSW 9 8,103,341 (GRCm39) missense possibly damaging 0.94
R9355:Cep126 UTSW 9 8,100,038 (GRCm39) missense possibly damaging 0.74
X0060:Cep126 UTSW 9 8,087,256 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAGTTGGTAGAGCTGGACTCAC -3'
(R):5'- AGAGCAAAGCCCCTGTACATGC -3'

Sequencing Primer
(F):5'- TAGAGCTGGACTCACAGCAG -3'
(R):5'- CCTGTACATGCTAGTGACTCTAAGAC -3'
Posted On 2014-02-11