Incidental Mutation 'IGL02485:Incenp'
ID 295391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Incenp
Ensembl Gene ENSMUSG00000024660
Gene Name inner centromere protein
Synonyms 2700067E22Rik
Accession Numbers

Genbank: NM_016692

Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02485
Quality Score
Status
Chromosome 19
Chromosomal Location 9872297-9899533 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9893368 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 299 (N299S)
Ref Sequence ENSEMBL: ENSMUSP00000025562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025562]
AlphaFold Q9WU62
Predicted Effect unknown
Transcript: ENSMUST00000025562
AA Change: N299S
SMART Domains Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: N299S

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,228,325 (GRCm38) V94E probably damaging Het
Agl A G 3: 116,779,080 (GRCm38) S841P probably benign Het
BC003331 A G 1: 150,363,489 (GRCm38) probably null Het
Cd59b A C 2: 104,081,104 (GRCm38) probably benign Het
Dopey2 T C 16: 93,770,822 (GRCm38) L1379P probably damaging Het
Ercc2 G A 7: 19,394,045 (GRCm38) A433T possibly damaging Het
Gm17175 T C 14: 51,569,611 (GRCm38) probably benign Het
Gm5150 A T 3: 15,990,752 (GRCm38) I103N probably damaging Het
Igf1 A G 10: 87,864,746 (GRCm38) M11V probably benign Het
Maneal A T 4: 124,856,770 (GRCm38) S398T probably damaging Het
Map1a A G 2: 121,299,288 (GRCm38) N195S probably damaging Het
Mars2 T C 1: 55,237,591 (GRCm38) F118L possibly damaging Het
Mast4 A G 13: 102,735,496 (GRCm38) S2263P probably benign Het
Mrgprb1 C A 7: 48,447,717 (GRCm38) R149L possibly damaging Het
Myo1d T C 11: 80,666,581 (GRCm38) D511G probably damaging Het
Ntan1 T C 16: 13,834,676 (GRCm38) probably benign Het
Nxf2 A G X: 134,956,467 (GRCm38) F158L probably damaging Het
Olfr1513 T A 14: 52,350,044 (GRCm38) M1L possibly damaging Het
Trpm1 C T 7: 64,269,114 (GRCm38) A734V possibly damaging Het
Upf2 G A 2: 6,027,291 (GRCm38) E883K unknown Het
Ush1c T C 7: 46,229,250 (GRCm38) I83V probably damaging Het
Vmn2r60 C A 7: 42,195,466 (GRCm38) T751N possibly damaging Het
Zfp146 A G 7: 30,162,590 (GRCm38) I9T probably benign Het
Zfp592 G A 7: 81,037,970 (GRCm38) probably benign Het
Zswim8 C T 14: 20,711,887 (GRCm38) L243F probably damaging Het
Other mutations in Incenp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Incenp APN 19 9,883,728 (GRCm38) missense unknown
IGL01717:Incenp APN 19 9,893,265 (GRCm38) splice site probably benign
IGL02488:Incenp APN 19 9,893,407 (GRCm38) missense unknown
B5639:Incenp UTSW 19 9,893,818 (GRCm38) missense unknown
R0060:Incenp UTSW 19 9,885,459 (GRCm38) splice site probably benign
R0164:Incenp UTSW 19 9,894,879 (GRCm38) missense probably benign 0.23
R0164:Incenp UTSW 19 9,894,879 (GRCm38) missense probably benign 0.23
R0242:Incenp UTSW 19 9,893,750 (GRCm38) missense unknown
R0242:Incenp UTSW 19 9,893,750 (GRCm38) missense unknown
R0284:Incenp UTSW 19 9,893,993 (GRCm38) missense unknown
R1264:Incenp UTSW 19 9,884,015 (GRCm38) missense unknown
R1432:Incenp UTSW 19 9,885,526 (GRCm38) missense unknown
R1679:Incenp UTSW 19 9,895,414 (GRCm38) missense unknown
R1827:Incenp UTSW 19 9,872,729 (GRCm38) missense possibly damaging 0.94
R1970:Incenp UTSW 19 9,885,487 (GRCm38) missense unknown
R3082:Incenp UTSW 19 9,883,779 (GRCm38) missense unknown
R3083:Incenp UTSW 19 9,883,779 (GRCm38) missense unknown
R4062:Incenp UTSW 19 9,883,778 (GRCm38) missense unknown
R4063:Incenp UTSW 19 9,883,778 (GRCm38) missense unknown
R4534:Incenp UTSW 19 9,883,939 (GRCm38) missense unknown
R4535:Incenp UTSW 19 9,883,939 (GRCm38) missense unknown
R4536:Incenp UTSW 19 9,883,939 (GRCm38) missense unknown
R4709:Incenp UTSW 19 9,876,600 (GRCm38) missense unknown
R4785:Incenp UTSW 19 9,877,690 (GRCm38) missense unknown
R4785:Incenp UTSW 19 9,877,691 (GRCm38) missense unknown
R5179:Incenp UTSW 19 9,894,909 (GRCm38) missense unknown
R5282:Incenp UTSW 19 9,878,406 (GRCm38) missense unknown
R5400:Incenp UTSW 19 9,877,675 (GRCm38) critical splice donor site probably null
R5502:Incenp UTSW 19 9,893,364 (GRCm38) missense unknown
R5608:Incenp UTSW 19 9,893,868 (GRCm38) small insertion probably benign
R6033:Incenp UTSW 19 9,872,697 (GRCm38) missense probably damaging 0.99
R6033:Incenp UTSW 19 9,872,697 (GRCm38) missense probably damaging 0.99
R6807:Incenp UTSW 19 9,877,756 (GRCm38) missense unknown
R6885:Incenp UTSW 19 9,875,132 (GRCm38) missense unknown
R6959:Incenp UTSW 19 9,876,770 (GRCm38) missense unknown
R7033:Incenp UTSW 19 9,893,372 (GRCm38) missense unknown
R8258:Incenp UTSW 19 9,893,641 (GRCm38) missense unknown
R8258:Incenp UTSW 19 9,893,629 (GRCm38) missense unknown
R8259:Incenp UTSW 19 9,893,641 (GRCm38) missense unknown
R8259:Incenp UTSW 19 9,893,629 (GRCm38) missense unknown
R8293:Incenp UTSW 19 9,875,133 (GRCm38) nonsense probably null
R9005:Incenp UTSW 19 9,877,724 (GRCm38) nonsense probably null
R9491:Incenp UTSW 19 9,876,777 (GRCm38) missense unknown
R9665:Incenp UTSW 19 9,893,965 (GRCm38) missense unknown
Z1176:Incenp UTSW 19 9,877,687 (GRCm38) missense unknown
Z1177:Incenp UTSW 19 9,899,364 (GRCm38) start gained probably benign
Posted On 2015-04-16