Incidental Mutation 'R0801:Cenpm'
ID 76295
Institutional Source Beutler Lab
Gene Symbol Cenpm
Ensembl Gene ENSMUSG00000068101
Gene Name centromere protein M
Synonyms 2610019I03Rik
MMRRC Submission 038981-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0801 (G1)
Quality Score 157
Status Not validated
Chromosome 15
Chromosomal Location 82117980-82128949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82118667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 149 (I149N)
Ref Sequence ENSEMBL: ENSMUSP00000086560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089155] [ENSMUST00000089157] [ENSMUST00000230408]
AlphaFold Q9CQA0
Predicted Effect probably benign
Transcript: ENSMUST00000089155
AA Change: H118Q

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000086558
Gene: ENSMUSG00000068101
AA Change: H118Q

DomainStartEndE-ValueType
Pfam:CENP-M 1 118 1.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089157
AA Change: I149N

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086560
Gene: ENSMUSG00000068101
AA Change: I149N

DomainStartEndE-ValueType
Pfam:CENP-M 1 172 1.1e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229505
Predicted Effect probably benign
Transcript: ENSMUST00000230408
AA Change: I115N

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230791
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: This gene encodes a protein that is present in the nucleus of actively growing cells but is excluded from the nucleus during cell division or during growth arrest as a result of contact inhibition. In human, this protein is a component of the CENP-A nucleosome-associated complex that regulates kinetochore protein assembly, mitotic cell-cycle progression, and chromosome segregation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign Het
Other mutations in Cenpm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03189:Cenpm APN 15 82,118,634 (GRCm39) missense possibly damaging 0.57
R1842:Cenpm UTSW 15 82,123,565 (GRCm39) missense probably benign 0.02
R1878:Cenpm UTSW 15 82,118,616 (GRCm39) missense probably benign 0.00
R3961:Cenpm UTSW 15 82,118,574 (GRCm39) missense possibly damaging 0.94
R5409:Cenpm UTSW 15 82,118,564 (GRCm39) missense probably benign
R5525:Cenpm UTSW 15 82,123,492 (GRCm39) critical splice donor site probably null
R7548:Cenpm UTSW 15 82,128,880 (GRCm39) start codon destroyed probably null 1.00
R7562:Cenpm UTSW 15 82,125,562 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTGGTCTTCACCAACAGTGGC -3'
(R):5'- AGTGACTTCTCTGTGACCCTGTGC -3'

Sequencing Primer
(F):5'- CTGCTTTTGGAACTGGCAGC -3'
(R):5'- ACCCTGTGCTTGACAGTG -3'
Posted On 2013-10-16