Incidental Mutation 'R4029:Cenpq'
ID313142
Institutional Source Beutler Lab
Gene Symbol Cenpq
Ensembl Gene ENSMUSG00000023919
Gene Namecentromere protein Q
Synonyms
MMRRC Submission 040959-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.368) question?
Stock #R4029 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location40923051-40935047 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40927249 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 125 (T125A)
Ref Sequence ENSEMBL: ENSMUSP00000084353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087114]
Predicted Effect probably damaging
Transcript: ENSMUST00000087114
AA Change: T125A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084353
Gene: ENSMUSG00000023919
AA Change: T125A

DomainStartEndE-ValueType
Pfam:CENP-Q 118 268 7.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130890
Meta Mutation Damage Score 0.1034 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (31/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,693,785 K46R probably benign Het
Ank A G 15: 27,544,257 N35D probably damaging Het
Atp9a A T 2: 168,689,325 I174N probably damaging Het
Bfsp1 G A 2: 143,831,829 probably benign Het
Dcun1d4 A G 5: 73,534,637 D89G probably damaging Het
Dip2b A G 15: 100,186,172 Y892C probably damaging Het
Dmrt2 T G 19: 25,678,134 S366A probably damaging Het
Exoc7 C T 11: 116,306,988 probably benign Het
Fam129a G A 1: 151,695,690 V239I probably benign Het
Fam159a G T 4: 108,383,215 C43* probably null Het
Gabra4 G T 5: 71,572,189 T390K probably benign Het
Gm13101 T A 4: 143,965,784 T216S probably benign Het
Gpr68 A G 12: 100,879,216 L23P probably damaging Het
Krt17 T A 11: 100,257,523 N364I probably damaging Het
Lefty1 T C 1: 180,937,781 S305P probably benign Het
Ly6g6d T A 17: 35,071,660 Q98L probably benign Het
Muc6 G A 7: 141,638,400 S2120F possibly damaging Het
Nck2 T C 1: 43,554,091 F153L probably benign Het
Nme4 T C 17: 26,094,222 probably null Het
Nup35 A G 2: 80,652,974 D172G probably benign Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Oog4 A T 4: 143,440,200 N11K probably benign Het
Phlpp1 T A 1: 106,392,549 S1425T probably damaging Het
Pkd1l3 T A 8: 109,623,971 S483T possibly damaging Het
Pld2 A G 11: 70,554,905 N655S probably damaging Het
Psmd2 G A 16: 20,663,205 G896D probably damaging Het
Rcn1 G T 2: 105,399,050 Y52* probably null Het
Reck T C 4: 43,922,931 I402T probably damaging Het
Ston2 T C 12: 91,648,263 Q457R possibly damaging Het
Syt10 T C 15: 89,814,538 E201G probably benign Het
Ube4a G A 9: 44,949,900 probably benign Het
Wdr49 C A 3: 75,323,665 L563F probably benign Het
Other mutations in Cenpq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Cenpq APN 17 40933176 missense possibly damaging 0.92
IGL01573:Cenpq APN 17 40930045 missense possibly damaging 0.63
IGL02351:Cenpq APN 17 40924332 missense probably damaging 1.00
IGL02358:Cenpq APN 17 40924332 missense probably damaging 1.00
IGL03395:Cenpq APN 17 40923558 missense probably damaging 1.00
R0270:Cenpq UTSW 17 40930050 missense probably damaging 1.00
R0389:Cenpq UTSW 17 40933194 unclassified probably benign
R1765:Cenpq UTSW 17 40924287 critical splice donor site probably null
R6187:Cenpq UTSW 17 40927198 missense probably benign 0.00
R6357:Cenpq UTSW 17 40924527 missense probably damaging 1.00
R8115:Cenpq UTSW 17 40932829 missense probably damaging 0.96
X0057:Cenpq UTSW 17 40931668 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACCACTAATGCTATGATGCTTTTC -3'
(R):5'- GTAGCCTTAGCATTCCATGATTTGAG -3'

Sequencing Primer
(F):5'- AATGCTATGATGCTTTTCTCCTTG -3'
(R):5'- AGAGACTCATGGCTTCAGCTG -3'
Posted On2015-04-30