Incidental Mutation 'R9064:Cep126'
ID 689151
Institutional Source Beutler Lab
Gene Symbol Cep126
Ensembl Gene ENSMUSG00000040729
Gene Name centrosomal protein 126
Synonyms AK129341
MMRRC Submission 068889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9064 (G1)
Quality Score 212.009
Status Validated
Chromosome 9
Chromosomal Location 8076462-8134295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8103341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 223 (D223G)
Ref Sequence ENSEMBL: ENSMUSP00000042904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037397]
AlphaFold Q0VBV7
Predicted Effect possibly damaging
Transcript: ENSMUST00000037397
AA Change: D223G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: D223G

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
Meta Mutation Damage Score 0.0948 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,463,510 (GRCm39) E598G probably benign Het
Adgrb3 T C 1: 25,570,965 (GRCm39) E504G possibly damaging Het
Ank3 T C 10: 69,822,185 (GRCm39) S285P Het
Ankrd28 G A 14: 31,454,005 (GRCm39) H410Y probably damaging Het
Armh1 C A 4: 117,094,855 (GRCm39) V62L probably benign Het
Atp8b1 A G 18: 64,697,491 (GRCm39) I451T probably benign Het
C2cd3 A G 7: 100,059,608 (GRCm39) D245G Het
Calr3 T C 8: 73,188,674 (GRCm39) K151R possibly damaging Het
Cenpq G A 17: 41,243,731 (GRCm39) T39I probably benign Het
Chd2 A T 7: 73,143,279 (GRCm39) I538K possibly damaging Het
Cyp3a41b C T 5: 145,514,910 (GRCm39) R105Q probably damaging Het
Dnah6 C A 6: 73,126,156 (GRCm39) R1327L probably benign Het
Exd2 T C 12: 80,531,148 (GRCm39) probably null Het
Fam118a T C 15: 84,930,039 (GRCm39) V89A probably damaging Het
Fbxo40 A T 16: 36,791,002 (GRCm39) I36K probably damaging Het
Fntb A G 12: 76,934,640 (GRCm39) N170S probably benign Het
Frzb A G 2: 80,277,052 (GRCm39) S45P probably benign Het
Gm4841 T C 18: 60,403,961 (GRCm39) E44G probably benign Het
Hecw2 C A 1: 53,866,045 (GRCm39) A1539S probably benign Het
Jarid2 G T 13: 44,994,326 (GRCm39) V13L Het
Kcnh5 A T 12: 75,177,727 (GRCm39) C126* probably null Het
Kdm5a TAGAAGAAG TAGAAG 6: 120,403,869 (GRCm39) probably benign Het
Kremen2 A G 17: 23,961,736 (GRCm39) L257P possibly damaging Het
Mcat A C 15: 83,432,134 (GRCm39) F245V probably damaging Het
Mdm2 T C 10: 117,538,235 (GRCm39) I54M probably benign Het
Muc4 A G 16: 32,754,397 (GRCm38) T1424A possibly damaging Het
Mylk3 T C 8: 86,081,940 (GRCm39) T416A probably benign Het
Nol4 T A 18: 22,903,850 (GRCm39) D156V Het
Nxpe4 T C 9: 48,309,964 (GRCm39) V409A probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Obscn G T 11: 58,899,935 (GRCm39) T966K Het
Or10j3b C T 1: 173,044,060 (GRCm39) L281F possibly damaging Het
Or10w1 G A 19: 13,632,719 (GRCm39) V309M possibly damaging Het
Or14c42-ps1 A G 7: 86,211,371 (GRCm39) T144A unknown Het
Phip C T 9: 82,753,540 (GRCm39) V1735I probably benign Het
Pkhd1l1 A T 15: 44,426,038 (GRCm39) T3200S possibly damaging Het
Prdm4 T C 10: 85,737,678 (GRCm39) N496S probably damaging Het
Proser1 C T 3: 53,384,927 (GRCm39) L270F probably damaging Het
Psmd11 T C 11: 80,336,069 (GRCm39) V107A probably damaging Het
Rassf10 A T 7: 112,554,315 (GRCm39) E305D probably benign Het
Rbm45 T C 2: 76,202,446 (GRCm39) I123T probably damaging Het
Rpp25 G T 9: 57,411,635 (GRCm39) R39L probably damaging Het
Rreb1 A G 13: 38,115,326 (GRCm39) N895S possibly damaging Het
Sirpa A T 2: 129,458,460 (GRCm39) S359C possibly damaging Het
Slc26a9 T A 1: 131,680,703 (GRCm39) C83S probably benign Het
Spink5 T G 18: 44,100,193 (GRCm39) L70R probably damaging Het
Stil T G 4: 114,898,932 (GRCm39) N1187K probably benign Het
Sucla2 A T 14: 73,828,303 (GRCm39) E303D probably benign Het
Supt3 G A 17: 45,305,295 (GRCm39) probably null Het
Tmc5 G T 7: 118,233,270 (GRCm39) S28I probably benign Het
Vps8 T C 16: 21,288,979 (GRCm39) V444A probably damaging 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
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
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'- CCCAAATGAGGTCCATGGAG -3'
(R):5'- AGAGCTATAGATTCTGCCTTGCC -3'

Sequencing Primer
(F):5'- TGGCTTAGTAGTAAAGAGCACTTGC -3'
(R):5'- AGATTCTGCCTTGCCTTCAACATTG -3'
Posted On 2021-11-19