Incidental Mutation 'R0060:Incenp'
| ID |
18097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Incenp
|
| Ensembl Gene |
ENSMUSG00000024660 |
| Gene Name |
inner centromere protein |
| Synonyms |
2700067E22Rik |
| MMRRC Submission |
038353-MU
|
| Accession Numbers |
Genbank: NM_016692
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0060 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
9872297-9899533 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 9885459 bp (GRCm38)
|
| 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 |
- 1x: 90.4%
- 3x: 88.3%
- 10x: 83.8%
- 20x: 78.1%
|
| Validation Efficiency |
94% (74/79) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810011H11Rik |
C |
A |
14: 32,806,769 (GRCm38) |
|
probably benign |
Het |
| 1810065E05Rik |
A |
C |
11: 58,422,182 (GRCm38) |
|
probably benign |
Het |
| 4930432E11Rik |
A |
G |
7: 29,574,170 (GRCm38) |
|
noncoding transcript |
Het |
| A630091E08Rik |
A |
G |
7: 98,543,668 (GRCm38) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 110,070,480 (GRCm38) |
T539A |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 43,675,883 (GRCm38) |
|
probably benign |
Het |
| Ankrd60 |
A |
T |
2: 173,572,613 (GRCm38) |
M1K |
probably null |
Het |
| Cald1 |
T |
C |
6: 34,715,459 (GRCm38) |
|
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,365,604 (GRCm38) |
|
probably benign |
Het |
| Cd109 |
G |
A |
9: 78,703,107 (GRCm38) |
E1145K |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,922,198 (GRCm38) |
V2353D |
probably damaging |
Het |
| Cep135 |
A |
T |
5: 76,621,350 (GRCm38) |
I616F |
probably benign |
Het |
| Cep162 |
T |
A |
9: 87,237,825 (GRCm38) |
|
probably benign |
Het |
| Cep350 |
C |
T |
1: 155,928,626 (GRCm38) |
D904N |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 134,167,300 (GRCm38) |
D65G |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 111,840,354 (GRCm38) |
|
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,711,058 (GRCm38) |
|
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,439,146 (GRCm38) |
|
probably benign |
Het |
| Crxos |
A |
G |
7: 15,898,523 (GRCm38) |
T40A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,668,514 (GRCm38) |
D472G |
probably damaging |
Het |
| Dpp6 |
C |
A |
5: 27,598,819 (GRCm38) |
N254K |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,879,541 (GRCm38) |
L11S |
probably damaging |
Het |
| Flad1 |
G |
A |
3: 89,402,245 (GRCm38) |
R515* |
probably null |
Het |
| Fzd5 |
T |
C |
1: 64,735,676 (GRCm38) |
T309A |
probably benign |
Het |
| Gm19685 |
T |
C |
17: 60,768,423 (GRCm38) |
|
|
Het |
| Gsdme |
A |
G |
6: 50,221,029 (GRCm38) |
I317T |
possibly damaging |
Het |
| Hist1h2ba |
A |
T |
13: 23,933,945 (GRCm38) |
I71N |
possibly damaging |
Het |
| Itgad |
T |
C |
7: 128,202,986 (GRCm38) |
S979P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,654,543 (GRCm38) |
V557A |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,241,868 (GRCm38) |
|
probably benign |
Het |
| Lgi4 |
G |
A |
7: 31,063,571 (GRCm38) |
G157D |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,960,961 (GRCm38) |
|
probably null |
Het |
| Nubpl |
T |
C |
12: 52,310,687 (GRCm38) |
|
probably benign |
Het |
| Olfr1105 |
T |
C |
2: 87,033,774 (GRCm38) |
Y149C |
probably damaging |
Het |
| Olfr124 |
T |
C |
17: 37,806,000 (GRCm38) |
L285P |
probably damaging |
Het |
| Olfr898 |
C |
T |
9: 38,349,512 (GRCm38) |
S143F |
probably benign |
Het |
| Peak1 |
A |
T |
9: 56,227,823 (GRCm38) |
I78K |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,003,733 (GRCm38) |
F85I |
probably damaging |
Het |
| Rbm11 |
G |
T |
16: 75,598,779 (GRCm38) |
D113Y |
probably damaging |
Het |
| Rif1 |
C |
T |
2: 52,111,117 (GRCm38) |
R1528C |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,705,257 (GRCm38) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,685,184 (GRCm38) |
T381S |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,948,004 (GRCm38) |
G696V |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,464,916 (GRCm38) |
Y134C |
probably damaging |
Het |
| Tmem89 |
T |
A |
9: 108,915,417 (GRCm38) |
V126D |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,220,922 (GRCm38) |
T46A |
probably benign |
Het |
| Trmt6 |
C |
T |
2: 132,806,769 (GRCm38) |
R415Q |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,204,525 (GRCm38) |
K1625E |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,440,890 (GRCm38) |
D559E |
probably benign |
Het |
| Wdr75 |
A |
G |
1: 45,816,617 (GRCm38) |
D476G |
probably benign |
Het |
| Wrap53 |
A |
C |
11: 69,563,430 (GRCm38) |
L261V |
possibly damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,807,078 (GRCm38) |
I292N |
possibly damaging |
Het |
|
| Other mutations in Incenp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Incenp
|
APN |
19 |
9,883,728 (GRCm38) |
missense |
unknown |
|
|
IGL01717:Incenp
|
APN |
19 |
9,893,265 (GRCm38) |
splice site |
probably benign |
|
|
IGL02485:Incenp
|
APN |
19 |
9,893,368 (GRCm38) |
missense |
unknown |
|
|
IGL02488:Incenp
|
APN |
19 |
9,893,407 (GRCm38) |
missense |
unknown |
|
|
B5639:Incenp
|
UTSW |
19 |
9,893,818 (GRCm38) |
missense |
unknown |
|
|
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 |
2013-03-25 |
Incidental Mutation