Incidental Mutation 'IGL02488:Incenp'
ID 295509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Incenp
Ensembl Gene ENSMUSG00000024660
Gene Name inner centromere protein
Synonyms 2700067E22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02488
Quality Score
Status
Chromosome 19
Chromosomal Location 9849659-9876853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9870771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 286 (I286N)
Ref Sequence ENSEMBL: ENSMUSP00000025562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025562]
AlphaFold Q9WU62
Predicted Effect unknown
Transcript: ENSMUST00000025562
AA Change: I286N
SMART Domains Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: I286N

DomainStartEndE-ValueType
Pfam:INCENP_N 6 41 1.9e-18 PFAM
low complexity region 83 94 N/A INTRINSIC
low complexity region 123 145 N/A INTRINSIC
low complexity region 308 314 N/A INTRINSIC
low complexity region 350 367 N/A INTRINSIC
low complexity region 434 447 N/A INTRINSIC
low complexity region 517 553 N/A INTRINSIC
low complexity region 557 573 N/A INTRINSIC
SCOP:d1f5na1 631 739 7e-3 SMART
Pfam:INCENP_ARK-bind 789 846 1.5e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant embryos die before E8.5. Embryonic cells exhibit abnormal nuclei and abberent mitosis. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(9)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging Het
Other mutations in Incenp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Incenp APN 19 9,861,092 (GRCm39) missense unknown
IGL01717:Incenp APN 19 9,870,629 (GRCm39) splice site probably benign
IGL02485:Incenp APN 19 9,870,732 (GRCm39) missense unknown
B5639:Incenp UTSW 19 9,871,182 (GRCm39) missense unknown
R0060:Incenp UTSW 19 9,862,823 (GRCm39) splice site probably benign
R0164:Incenp UTSW 19 9,872,243 (GRCm39) missense probably benign 0.23
R0164:Incenp UTSW 19 9,872,243 (GRCm39) missense probably benign 0.23
R0242:Incenp UTSW 19 9,871,114 (GRCm39) missense unknown
R0242:Incenp UTSW 19 9,871,114 (GRCm39) missense unknown
R0284:Incenp UTSW 19 9,871,357 (GRCm39) missense unknown
R1264:Incenp UTSW 19 9,861,379 (GRCm39) missense unknown
R1432:Incenp UTSW 19 9,862,890 (GRCm39) missense unknown
R1679:Incenp UTSW 19 9,872,778 (GRCm39) missense unknown
R1827:Incenp UTSW 19 9,850,093 (GRCm39) missense possibly damaging 0.94
R1970:Incenp UTSW 19 9,862,851 (GRCm39) missense unknown
R3082:Incenp UTSW 19 9,861,143 (GRCm39) missense unknown
R3083:Incenp UTSW 19 9,861,143 (GRCm39) missense unknown
R4062:Incenp UTSW 19 9,861,142 (GRCm39) missense unknown
R4063:Incenp UTSW 19 9,861,142 (GRCm39) missense unknown
R4534:Incenp UTSW 19 9,861,303 (GRCm39) missense unknown
R4535:Incenp UTSW 19 9,861,303 (GRCm39) missense unknown
R4536:Incenp UTSW 19 9,861,303 (GRCm39) missense unknown
R4709:Incenp UTSW 19 9,853,964 (GRCm39) missense unknown
R4785:Incenp UTSW 19 9,855,054 (GRCm39) missense unknown
R4785:Incenp UTSW 19 9,855,055 (GRCm39) missense unknown
R5179:Incenp UTSW 19 9,872,273 (GRCm39) missense unknown
R5282:Incenp UTSW 19 9,855,770 (GRCm39) missense unknown
R5400:Incenp UTSW 19 9,855,039 (GRCm39) critical splice donor site probably null
R5502:Incenp UTSW 19 9,870,728 (GRCm39) missense unknown
R5608:Incenp UTSW 19 9,871,232 (GRCm39) small insertion probably benign
R6033:Incenp UTSW 19 9,850,061 (GRCm39) missense probably damaging 0.99
R6033:Incenp UTSW 19 9,850,061 (GRCm39) missense probably damaging 0.99
R6807:Incenp UTSW 19 9,855,120 (GRCm39) missense unknown
R6885:Incenp UTSW 19 9,852,496 (GRCm39) missense unknown
R6959:Incenp UTSW 19 9,854,134 (GRCm39) missense unknown
R7033:Incenp UTSW 19 9,870,736 (GRCm39) missense unknown
R8258:Incenp UTSW 19 9,871,005 (GRCm39) missense unknown
R8258:Incenp UTSW 19 9,870,993 (GRCm39) missense unknown
R8259:Incenp UTSW 19 9,871,005 (GRCm39) missense unknown
R8259:Incenp UTSW 19 9,870,993 (GRCm39) missense unknown
R8293:Incenp UTSW 19 9,852,497 (GRCm39) nonsense probably null
R9005:Incenp UTSW 19 9,855,088 (GRCm39) nonsense probably null
R9491:Incenp UTSW 19 9,854,141 (GRCm39) missense unknown
R9665:Incenp UTSW 19 9,871,329 (GRCm39) missense unknown
Z1176:Incenp UTSW 19 9,855,051 (GRCm39) missense unknown
Z1177:Incenp UTSW 19 9,876,728 (GRCm39) start gained probably benign
Posted On 2015-04-16