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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |