Incidental Mutation 'IGL01293:Cenpq'
ID 72973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpq
Ensembl Gene ENSMUSG00000023919
Gene Name centromere protein Q
Synonyms 2610528M18Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # IGL01293
Quality Score
Status
Chromosome 17
Chromosomal Location 41233942-41245938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41244067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 4 (S4T)
Ref Sequence ENSEMBL: ENSMUSP00000084353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087114] [ENSMUST00000169611]
AlphaFold Q9CPQ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000087114
AA Change: S4T

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084353
Gene: ENSMUSG00000023919
AA Change: S4T

DomainStartEndE-ValueType
Pfam:CENP-Q 118 268 7.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169611
SMART Domains Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921

DomainStartEndE-ValueType
Pfam:MM_CoA_mutase 60 572 3.7e-240 PFAM
Pfam:B12-binding 613 731 4.7e-17 PFAM
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Cenpq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Cenpq APN 17 41,240,936 (GRCm39) missense possibly damaging 0.63
IGL02351:Cenpq APN 17 41,235,223 (GRCm39) missense probably damaging 1.00
IGL02358:Cenpq APN 17 41,235,223 (GRCm39) missense probably damaging 1.00
IGL03395:Cenpq APN 17 41,234,449 (GRCm39) missense probably damaging 1.00
R0270:Cenpq UTSW 17 41,240,941 (GRCm39) missense probably damaging 1.00
R0389:Cenpq UTSW 17 41,244,085 (GRCm39) unclassified probably benign
R1765:Cenpq UTSW 17 41,235,178 (GRCm39) critical splice donor site probably null
R4029:Cenpq UTSW 17 41,238,140 (GRCm39) missense probably damaging 0.99
R6187:Cenpq UTSW 17 41,238,089 (GRCm39) missense probably benign 0.00
R6357:Cenpq UTSW 17 41,235,418 (GRCm39) missense probably damaging 1.00
R8115:Cenpq UTSW 17 41,243,720 (GRCm39) missense probably damaging 0.96
R8810:Cenpq UTSW 17 41,244,027 (GRCm39) missense possibly damaging 0.50
R8874:Cenpq UTSW 17 41,242,551 (GRCm39) missense probably damaging 1.00
R9064:Cenpq UTSW 17 41,243,731 (GRCm39) missense probably benign 0.14
R9755:Cenpq UTSW 17 41,243,712 (GRCm39) missense probably benign 0.33
X0057:Cenpq UTSW 17 41,242,559 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07