Incidental Mutation 'IGL01324:Incenp'
ID74167
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Incenp
Ensembl Gene ENSMUSG00000024660
Gene Nameinner centromere protein
Synonyms2700067E22Rik
Accession Numbers

Genbank: NM_016692

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01324
Quality Score
Status
Chromosome19
Chromosomal Location9872297-9899533 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 9883728 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 497 (R497C)
Ref Sequence ENSEMBL: ENSMUSP00000025562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025562]
Predicted Effect unknown
Transcript: ENSMUST00000025562
AA Change: R497C
SMART Domains Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: R497C

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 9,003,032 G560D probably damaging Het
Ap1g1 T A 8: 109,832,782 D239E possibly damaging Het
Ap2a1 T A 7: 44,905,696 T482S probably damaging Het
BC004004 T C 17: 29,282,251 L58P probably damaging Het
Camsap1 C A 2: 25,933,623 V1472L possibly damaging Het
Ces3b A T 8: 105,093,252 E569V probably damaging Het
Commd6 G A 14: 101,640,302 probably benign Het
Ddx54 A G 5: 120,623,638 D493G probably benign Het
Dync1h1 C T 12: 110,626,865 R1189C probably damaging Het
Ern2 T A 7: 122,183,190 I68F possibly damaging Het
Eya4 A G 10: 23,116,551 probably null Het
Gda A T 19: 21,409,886 I325K probably damaging Het
Gmnn T C 13: 24,752,122 T190A probably benign Het
Hdac4 G A 1: 91,959,415 P801S probably damaging Het
Hnrnph3 A T 10: 63,018,124 *72K probably null Het
Hoxd12 A T 2: 74,675,136 N17I probably damaging Het
Iqsec1 C A 6: 90,689,703 R584L probably damaging Het
Kcnip1 A G 11: 33,645,603 M1T probably null Het
Kcnu1 T A 8: 25,849,707 S18T probably benign Het
Lepr T A 4: 101,768,068 D473E probably benign Het
Nfkbiz T C 16: 55,815,804 T564A probably damaging Het
Nsd3 C T 8: 25,662,820 T392I probably damaging Het
Olfr1490 T C 19: 13,654,933 I163T probably damaging Het
Olfr713 T C 7: 107,036,847 S231P probably damaging Het
P4ha2 A G 11: 54,120,158 D333G probably damaging Het
Parg T C 14: 32,296,185 probably benign Het
Psmc2 G A 5: 21,800,009 probably null Het
Rnf213 A G 11: 119,447,237 Y3354C probably damaging Het
Siglec1 T G 2: 131,085,541 D115A probably damaging Het
Slit3 G T 11: 35,610,702 G421V probably damaging Het
Srgap3 T A 6: 112,739,397 H590L probably damaging Het
Stk36 A C 1: 74,625,610 T628P possibly damaging Het
Stx12 A T 4: 132,863,265 M107K probably benign Het
Syne2 G T 12: 76,043,752 V5105F probably damaging Het
Tecta T C 9: 42,345,431 S1650G probably damaging Het
Tlr1 T C 5: 64,925,179 N685S probably damaging Het
Trio A G 15: 27,905,323 V60A probably benign Het
Ttyh3 G A 5: 140,631,513 R334W probably benign Het
Ube2u A G 4: 100,479,225 E15G possibly damaging Het
Ush2a G T 1: 188,848,992 V3690L probably benign Het
Xab2 A G 8: 3,621,232 V16A possibly damaging Het
Other mutations in Incenp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Incenp APN 19 9893265 splice site probably benign
IGL02485:Incenp APN 19 9893368 missense unknown
IGL02488:Incenp APN 19 9893407 missense unknown
B5639:Incenp UTSW 19 9893818 missense unknown
R0060:Incenp UTSW 19 9885459 splice site probably benign
R0164:Incenp UTSW 19 9894879 missense probably benign 0.23
R0164:Incenp UTSW 19 9894879 missense probably benign 0.23
R0242:Incenp UTSW 19 9893750 missense unknown
R0242:Incenp UTSW 19 9893750 missense unknown
R0284:Incenp UTSW 19 9893993 missense unknown
R1264:Incenp UTSW 19 9884015 missense unknown
R1432:Incenp UTSW 19 9885526 missense unknown
R1679:Incenp UTSW 19 9895414 missense unknown
R1827:Incenp UTSW 19 9872729 missense possibly damaging 0.94
R1970:Incenp UTSW 19 9885487 missense unknown
R3082:Incenp UTSW 19 9883779 missense unknown
R3083:Incenp UTSW 19 9883779 missense unknown
R4062:Incenp UTSW 19 9883778 missense unknown
R4063:Incenp UTSW 19 9883778 missense unknown
R4534:Incenp UTSW 19 9883939 missense unknown
R4535:Incenp UTSW 19 9883939 missense unknown
R4536:Incenp UTSW 19 9883939 missense unknown
R4709:Incenp UTSW 19 9876600 missense unknown
R4785:Incenp UTSW 19 9877690 missense unknown
R4785:Incenp UTSW 19 9877691 missense unknown
R5179:Incenp UTSW 19 9894909 missense unknown
R5282:Incenp UTSW 19 9878406 missense unknown
R5400:Incenp UTSW 19 9877675 critical splice donor site probably null
R5502:Incenp UTSW 19 9893364 missense unknown
R5608:Incenp UTSW 19 9893868 small insertion probably benign
R6033:Incenp UTSW 19 9872697 missense probably damaging 0.99
R6033:Incenp UTSW 19 9872697 missense probably damaging 0.99
R6807:Incenp UTSW 19 9877756 missense unknown
R6885:Incenp UTSW 19 9875132 missense unknown
R6959:Incenp UTSW 19 9876770 missense unknown
R7033:Incenp UTSW 19 9893372 missense unknown
Z1176:Incenp UTSW 19 9877687 missense unknown
Z1177:Incenp UTSW 19 9899364 start gained probably benign
Posted On2013-10-07