Incidental Mutation 'IGL03189:Cenpm'
ID412592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpm
Ensembl Gene ENSMUSG00000068101
Gene Namecentromere protein M
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03189
Quality Score
Status
Chromosome15
Chromosomal Location82233779-82244748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82234433 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 160 (V160A)
Ref Sequence ENSEMBL: ENSMUSP00000086560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089155] [ENSMUST00000089157] [ENSMUST00000230408]
Predicted Effect silent
Transcript: ENSMUST00000089155
SMART Domains Protein: ENSMUSP00000086558
Gene: ENSMUSG00000068101

DomainStartEndE-ValueType
Pfam:CENP-M 1 118 1.7e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000089157
AA Change: V160A

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086560
Gene: ENSMUSG00000068101
AA Change: V160A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230791
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Cenpm
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0801:Cenpm UTSW 15 82234466 missense probably benign 0.36
R1842:Cenpm UTSW 15 82239364 missense probably benign 0.02
R1878:Cenpm UTSW 15 82234415 missense probably benign 0.00
R3961:Cenpm UTSW 15 82234373 missense possibly damaging 0.94
R5409:Cenpm UTSW 15 82234363 missense probably benign
R5525:Cenpm UTSW 15 82239291 critical splice donor site probably null
R7548:Cenpm UTSW 15 82244679 start codon destroyed probably null 1.00
R7562:Cenpm UTSW 15 82241361 missense probably benign 0.01
Posted On2016-08-02