Incidental Mutation 'IGL01717:Incenp'
| ID |
104991 |
| 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 # |
IGL01717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
9849659-9876853 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 9870629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025562]
|
| AlphaFold |
Q9WU62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025562
|
| SMART Domains |
Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
A |
T |
17: 35,390,531 (GRCm39) |
M73K |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,910,377 (GRCm39) |
I110V |
probably benign |
Het |
| Aoah |
T |
C |
13: 21,184,147 (GRCm39) |
S404P |
probably damaging |
Het |
| Bhlhe41 |
A |
G |
6: 145,808,763 (GRCm39) |
S350P |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,088,885 (GRCm39) |
S4112G |
probably benign |
Het |
| Capn12 |
A |
G |
7: 28,588,530 (GRCm39) |
D540G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,807,179 (GRCm39) |
Y2012H |
possibly damaging |
Het |
| Col1a1 |
A |
G |
11: 94,841,603 (GRCm39) |
T1284A |
unknown |
Het |
| Col24a1 |
T |
C |
3: 145,230,018 (GRCm39) |
|
probably benign |
Het |
| Col4a5 |
T |
A |
X: 140,422,234 (GRCm39) |
V1070D |
unknown |
Het |
| Col6a5 |
T |
C |
9: 105,817,472 (GRCm39) |
T280A |
unknown |
Het |
| Dicer1 |
A |
T |
12: 104,669,046 (GRCm39) |
L1212* |
probably null |
Het |
| Gigyf1 |
T |
A |
5: 137,523,953 (GRCm39) |
V1041E |
probably damaging |
Het |
| Gm4978 |
C |
T |
9: 69,358,155 (GRCm39) |
|
probably benign |
Het |
| Gnai1 |
A |
G |
5: 18,496,459 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
T |
16: 36,735,864 (GRCm39) |
R1704* |
probably null |
Het |
| Lrrc39 |
A |
T |
3: 116,373,146 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,017,113 (GRCm39) |
K319E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,079,879 (GRCm39) |
D83G |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,418,938 (GRCm39) |
I732T |
probably damaging |
Het |
| Pacs1 |
T |
A |
19: 5,218,000 (GRCm39) |
K130N |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,702 (GRCm39) |
|
probably null |
Het |
| Pole2 |
T |
C |
12: 69,260,623 (GRCm39) |
M186V |
probably damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,997,140 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,357,510 (GRCm39) |
Y161H |
probably damaging |
Het |
| Sf3a2 |
C |
T |
10: 80,640,526 (GRCm39) |
Q446* |
probably null |
Het |
| Slc26a3 |
T |
C |
12: 31,513,476 (GRCm39) |
I466T |
probably benign |
Het |
| Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,247,335 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,802,963 (GRCm39) |
I756F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation