Incidental Mutation 'R0184:Cep126'
ID 23973
Institutional Source Beutler Lab
Gene Symbol Cep126
Ensembl Gene ENSMUSG00000040729
Gene Name centrosomal protein 126
Synonyms AK129341
MMRRC Submission 038449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0184 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 8076462-8134295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8103396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 205 (T205A)
Ref Sequence ENSEMBL: ENSMUSP00000042904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037397]
AlphaFold Q0VBV7
Predicted Effect probably benign
Transcript: ENSMUST00000037397
AA Change: T205A

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: T205A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.9%
Validation Efficiency 66% (50/76)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C A 3: 124,212,899 (GRCm39) V131F probably damaging Het
Adam28 T C 14: 68,874,822 (GRCm39) D285G probably benign Het
Akr1c13 A G 13: 4,244,055 (GRCm39) E36G probably damaging Het
Antxr2 A G 5: 98,127,889 (GRCm39) L214S probably damaging Het
Arhgap26 T A 18: 38,750,726 (GRCm39) D46E unknown Het
Armc9 T C 1: 86,126,092 (GRCm39) L61P probably damaging Het
Bicc1 C A 10: 70,915,045 (GRCm39) R73L probably benign Het
Calm2 T C 17: 87,743,269 (GRCm39) N43S probably benign Het
Cct7 A G 6: 85,438,536 (GRCm39) D105G probably null Het
Cdk18 T C 1: 132,046,276 (GRCm39) N215D probably benign Het
Cfap57 A T 4: 118,456,209 (GRCm39) I495N probably damaging Het
Cyp2b9 T A 7: 25,886,432 (GRCm39) C152* probably null Het
Dab2ip G A 2: 35,608,803 (GRCm39) R579H probably damaging Het
Dnah8 T C 17: 30,902,657 (GRCm39) V905A probably benign Het
Eif4h C A 5: 134,654,229 (GRCm39) D134Y possibly damaging Het
Espl1 T A 15: 102,207,651 (GRCm39) S372T probably benign Het
Fat2 T A 11: 55,187,114 (GRCm39) H1244L probably damaging Het
Fbxo11 T A 17: 88,316,101 (GRCm39) N443I probably benign Het
Git2 G A 5: 114,877,098 (GRCm39) T128M possibly damaging Het
Gm10985 T A 3: 53,752,679 (GRCm39) Y21N probably damaging Het
Gm12790 A T 4: 101,824,811 (GRCm39) Y152* probably null Het
Heatr5a T C 12: 51,956,752 (GRCm39) D1115G probably benign Het
Hipk2 T C 6: 38,695,866 (GRCm39) N726S possibly damaging Het
Hrg T C 16: 22,772,521 (GRCm39) probably null Het
Iars1 T G 13: 49,875,688 (GRCm39) S792A probably benign Het
Igf1r A G 7: 67,875,941 (GRCm39) N1301S possibly damaging Het
Il22 A T 10: 118,041,511 (GRCm39) I75F probably damaging Het
Ilkap T C 1: 91,304,027 (GRCm39) probably benign Het
Ints13 A T 6: 146,456,542 (GRCm39) Y435N probably benign Het
Ints8 A C 4: 11,218,637 (GRCm39) S797A probably benign Het
Itgad T A 7: 127,788,403 (GRCm39) D405E probably benign Het
Itgam A T 7: 127,685,230 (GRCm39) I448F probably damaging Het
Klk1 C T 7: 43,878,173 (GRCm39) T41I possibly damaging Het
Mcrip1 T C 11: 120,435,710 (GRCm39) M1V probably null Het
Mdga1 A G 17: 30,071,416 (GRCm39) Y128H probably damaging Het
Mtor G T 4: 148,549,428 (GRCm39) R604L probably benign Het
Or52p1 T C 7: 104,267,447 (GRCm39) V187A probably damaging Het
Or5d41 A T 2: 88,055,124 (GRCm39) L84* probably null Het
Pcdhb7 T A 18: 37,476,443 (GRCm39) D526E probably benign Het
Pip4k2a T C 2: 18,893,939 (GRCm39) D139G probably damaging Het
Pkp3 A C 7: 140,668,280 (GRCm39) N536T probably benign Het
Pla2g4c T A 7: 13,090,145 (GRCm39) S524T probably benign Het
Pno1 T C 11: 17,161,127 (GRCm39) E69G probably benign Het
Pold1 C T 7: 44,191,139 (GRCm39) V231M probably benign Het
Poli A G 18: 70,655,802 (GRCm39) S248P probably damaging Het
Ppox C T 1: 171,107,126 (GRCm39) S138N probably damaging Het
Psg20 T C 7: 18,419,901 (GRCm39) E6G probably null Het
Rbmx C T X: 56,436,926 (GRCm39) probably null Het
Rln1 T A 19: 29,309,336 (GRCm39) K148* probably null Het
Rnf213 C T 11: 119,305,347 (GRCm39) T526I probably damaging Het
Rps6kc1 A T 1: 190,531,290 (GRCm39) V904E probably null Het
Sf3b2 T A 19: 5,333,700 (GRCm39) I633F probably damaging Het
Sfswap T A 5: 129,584,253 (GRCm39) I189N probably damaging Het
Smarca2 T A 19: 26,669,649 (GRCm39) Y973* probably null Het
Spink5 G A 18: 44,136,265 (GRCm39) D559N probably benign Het
Spty2d1 C T 7: 46,647,322 (GRCm39) V536I possibly damaging Het
Tbx3 T C 5: 119,813,627 (GRCm39) I221T probably damaging Het
Tcf20 T A 15: 82,736,501 (GRCm39) D1650V probably damaging Het
Thsd7b A G 1: 129,358,701 (GRCm39) K45R probably benign Het
Tirap A G 9: 35,100,490 (GRCm39) S65P probably benign Het
Trim25 C T 11: 88,890,466 (GRCm39) P51L probably damaging Het
Trim61 T C 8: 65,467,069 (GRCm39) N64S probably benign Het
Twf1 T A 15: 94,478,948 (GRCm39) probably null Het
Ubr4 A C 4: 139,172,573 (GRCm39) T1692P probably damaging Het
Usp3 A G 9: 66,469,863 (GRCm39) M86T probably damaging Het
Utrn T C 10: 12,543,362 (GRCm39) D1762G probably benign Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Vmn2r52 T C 7: 9,893,265 (GRCm39) S625G probably damaging Het
Vmn2r90 G A 17: 17,947,139 (GRCm39) W472* probably null Het
Vrk2 C A 11: 26,500,046 (GRCm39) A56S probably damaging Het
Yeats2 C T 16: 20,022,435 (GRCm39) P620S possibly damaging Het
Zbtb21 C T 16: 97,751,713 (GRCm39) D171N probably damaging Het
Zeb1 A T 18: 5,766,808 (GRCm39) I440F probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm39) I253T 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
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
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'- TGATGAAGTTGTGCTGACTCATCTGC -3'
(R):5'- TCAGGATTTCTACCCCAGCCCAAG -3'

Sequencing Primer
(F):5'- GCAGTATTTTTTTTTGCCTCCTTTTG -3'
(R):5'- CAAAGTCATGAATGAATGAGTGTCC -3'
Posted On 2013-04-16