Incidental Mutation 'R7345:Cep126'
ID 570149
Institutional Source Beutler Lab
Gene Symbol Cep126
Ensembl Gene ENSMUSG00000040729
Gene Name centrosomal protein 126
Synonyms AK129341
MMRRC Submission 045379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7345 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 8076462-8134295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8099817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 906 (S906P)
Ref Sequence ENSEMBL: ENSMUSP00000042904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037397]
AlphaFold Q0VBV7
Predicted Effect probably damaging
Transcript: ENSMUST00000037397
AA Change: S906P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: S906P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks3 A G 16: 4,773,774 (GRCm39) M174T possibly damaging Het
Arhgap23 G A 11: 97,357,304 (GRCm39) R934Q possibly damaging Het
Atad5 T C 11: 79,986,832 (GRCm39) S640P probably damaging Het
B3galnt2 C T 13: 14,155,065 (GRCm39) probably null Het
B430305J03Rik T C 3: 61,271,539 (GRCm39) S69G unknown Het
Cd163 A T 6: 124,295,897 (GRCm39) N747I possibly damaging Het
Cimip2b T C 4: 43,428,022 (GRCm39) D145G possibly damaging Het
Cyp4f39 G A 17: 32,705,753 (GRCm39) G318R probably damaging Het
D630003M21Rik C T 2: 158,059,129 (GRCm39) G257D probably damaging Het
Dcaf10 T C 4: 45,342,583 (GRCm39) L139P probably damaging Het
Dcc A G 18: 71,511,895 (GRCm39) V840A probably benign Het
Dnhd1 A T 7: 105,353,174 (GRCm39) I2776L probably benign Het
Fbxo24 G T 5: 137,619,523 (GRCm39) F234L probably damaging Het
Gm21190 T C 5: 15,732,902 (GRCm39) probably null Het
Grhl3 C T 4: 135,273,557 (GRCm39) R565Q probably damaging Het
Gtf3c1 A T 7: 125,244,842 (GRCm39) Y1731N probably damaging Het
Il1a C A 2: 129,146,693 (GRCm39) R133S probably benign Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Klc3 G A 7: 19,128,814 (GRCm39) T481M probably benign Het
Map2k6 A T 11: 110,383,734 (GRCm39) I127F Het
Mapk8 A T 14: 33,130,068 (GRCm39) N63K probably damaging Het
Med13l T C 5: 118,880,825 (GRCm39) W1306R probably damaging Het
Megf6 C A 4: 154,351,772 (GRCm39) Q1162K probably benign Het
Myo5b A G 18: 74,841,095 (GRCm39) E992G possibly damaging Het
Ndst4 C T 3: 125,508,308 (GRCm39) T291M probably benign Het
Nek10 T A 14: 14,955,503 (GRCm38) F838L probably benign Het
Nrm A G 17: 36,175,476 (GRCm39) H194R probably damaging Het
Nup188 T C 2: 30,230,613 (GRCm39) S1384P probably benign Het
Olfml2a C A 2: 38,850,139 (GRCm39) D618E probably damaging Het
Or5p78 C T 7: 108,212,270 (GRCm39) T252I probably benign Het
Or8g23 A G 9: 38,971,875 (GRCm39) L29P probably damaging Het
Or8g24 G A 9: 38,989,630 (GRCm39) S137F probably damaging Het
Or9s18 A C 13: 65,300,557 (GRCm39) N173T possibly damaging Het
P2ry1 T C 3: 60,911,095 (GRCm39) F78S possibly damaging Het
Pcdhb18 T C 18: 37,624,976 (GRCm39) F769L probably benign Het
Poc5 A G 13: 96,533,304 (GRCm39) E144G probably damaging Het
Pole T A 5: 110,451,769 (GRCm39) N870K possibly damaging Het
Polr2b T C 5: 77,496,966 (GRCm39) F1159L possibly damaging Het
Pramel32 T C 4: 88,546,416 (GRCm39) K309E possibly damaging Het
Rubcnl A G 14: 75,279,793 (GRCm39) Y392C probably benign Het
Sec31a T C 5: 100,533,129 (GRCm39) T539A probably damaging Het
Serpinh1 A C 7: 98,995,563 (GRCm39) S340A probably damaging Het
Slc1a5 T A 7: 16,530,085 (GRCm39) probably null Het
Soat2 A G 15: 102,071,013 (GRCm39) D469G probably benign Het
Speg T C 1: 75,361,479 (GRCm39) L70P probably damaging Het
Spred2 T C 11: 19,874,958 (GRCm39) probably null Het
Stac2 A C 11: 97,933,439 (GRCm39) S168A probably damaging Het
Stx1a T A 5: 135,066,042 (GRCm39) D31E probably benign Het
Timeless C T 10: 128,085,623 (GRCm39) T885M probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tsen34 T C 7: 3,698,614 (GRCm39) Y253H probably damaging Het
Unc13b T C 4: 43,173,966 (GRCm39) V1598A unknown Het
Zfat A T 15: 67,976,892 (GRCm39) Y1086N probably damaging Het
Zfp551 G A 7: 12,150,522 (GRCm39) H296Y 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
R1351:Cep126 UTSW 9 8,100,087 (GRCm39) missense probably damaging 0.99
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
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'- TACAGGATTTAGAGCTACTGAGATC -3'
(R):5'- AGTAGTCTCCCGTTCTCAGACAC -3'

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