Incidental Mutation 'IGL01324:Incenp'
| ID |
74167 |
| 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 # |
IGL01324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
9849659-9876853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9861092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 497
(R497C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025562]
|
| AlphaFold |
Q9WU62 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025562
AA Change: R497C
|
| SMART Domains |
Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: R497C
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,980,396 (GRCm39) |
G560D |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,559,414 (GRCm39) |
D239E |
possibly damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,120 (GRCm39) |
T482S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,501,225 (GRCm39) |
L58P |
probably damaging |
Het |
| Camsap1 |
C |
A |
2: 25,823,635 (GRCm39) |
V1472L |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,819,884 (GRCm39) |
E569V |
probably damaging |
Het |
| Commd6 |
G |
A |
14: 101,877,738 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,593,299 (GRCm39) |
R1189C |
probably damaging |
Het |
| Ern2 |
T |
A |
7: 121,782,413 (GRCm39) |
I68F |
possibly damaging |
Het |
| Eya4 |
A |
G |
10: 22,992,449 (GRCm39) |
|
probably null |
Het |
| Gda |
A |
T |
19: 21,387,250 (GRCm39) |
I325K |
probably damaging |
Het |
| Gmnn |
T |
C |
13: 24,936,105 (GRCm39) |
T190A |
probably benign |
Het |
| Hdac4 |
G |
A |
1: 91,887,137 (GRCm39) |
P801S |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,903 (GRCm39) |
*72K |
probably null |
Het |
| Hoxd12 |
A |
T |
2: 74,505,480 (GRCm39) |
N17I |
probably damaging |
Het |
| Iqsec1 |
C |
A |
6: 90,666,685 (GRCm39) |
R584L |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,595,603 (GRCm39) |
M1T |
probably null |
Het |
| Kcnu1 |
T |
A |
8: 26,339,735 (GRCm39) |
S18T |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,625,265 (GRCm39) |
D473E |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,167 (GRCm39) |
T564A |
probably damaging |
Het |
| Nsd3 |
C |
T |
8: 26,152,836 (GRCm39) |
T392I |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,636,054 (GRCm39) |
S231P |
probably damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,297 (GRCm39) |
I163T |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,010,984 (GRCm39) |
D333G |
probably damaging |
Het |
| Parg |
T |
C |
14: 32,018,142 (GRCm39) |
|
probably benign |
Het |
| Psmc2 |
G |
A |
5: 22,005,007 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,338,063 (GRCm39) |
Y3354C |
probably damaging |
Het |
| Siglec1 |
T |
G |
2: 130,927,461 (GRCm39) |
D115A |
probably damaging |
Het |
| Slit3 |
G |
T |
11: 35,501,529 (GRCm39) |
G421V |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,716,358 (GRCm39) |
H590L |
probably damaging |
Het |
| Stk36 |
A |
C |
1: 74,664,769 (GRCm39) |
T628P |
possibly damaging |
Het |
| Stx12 |
A |
T |
4: 132,590,576 (GRCm39) |
M107K |
probably benign |
Het |
| Syne2 |
G |
T |
12: 76,090,526 (GRCm39) |
V5105F |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,256,727 (GRCm39) |
S1650G |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,522 (GRCm39) |
N685S |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,905,409 (GRCm39) |
V60A |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,617,268 (GRCm39) |
R334W |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,336,422 (GRCm39) |
E15G |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,581,189 (GRCm39) |
V3690L |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,671,232 (GRCm39) |
V16A |
possibly damaging |
Het |
|
| Other mutations in Incenp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01717:Incenp
|
APN |
19 |
9,870,629 (GRCm39) |
splice site |
probably benign |
|
|
IGL02485:Incenp
|
APN |
19 |
9,870,732 (GRCm39) |
missense |
unknown |
|
|
IGL02488:Incenp
|
APN |
19 |
9,870,771 (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 |
2013-10-07 |
Incidental Mutation