Incidental Mutation 'R8293:Incenp'
| ID |
638827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Incenp
|
| Ensembl Gene |
ENSMUSG00000024660 |
| Gene Name |
inner centromere protein |
| Synonyms |
2700067E22Rik |
| MMRRC Submission |
067783-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
9849659-9876853 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 9852497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 714
(R714*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025562]
|
| AlphaFold |
Q9WU62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025562
AA Change: R714*
|
| SMART Domains |
Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: R714*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (58/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,061,864 (GRCm39) |
S105P |
possibly damaging |
Het |
| Acsm1 |
T |
G |
7: 119,237,319 (GRCm39) |
S211A |
possibly damaging |
Het |
| Adam4 |
T |
A |
12: 81,467,185 (GRCm39) |
R479* |
probably null |
Het |
| Agap3 |
A |
C |
5: 24,692,883 (GRCm39) |
S439R |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,050,141 (GRCm39) |
H1075L |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,079,029 (GRCm39) |
E1299G |
probably benign |
Het |
| Bnip5 |
T |
C |
17: 29,121,864 (GRCm39) |
K468E |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,845,570 (GRCm39) |
I329F |
probably damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,591,796 (GRCm39) |
T115S |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,084 (GRCm39) |
N101S |
probably benign |
Het |
| Ces2b |
A |
C |
8: 105,559,258 (GRCm39) |
T40P |
unknown |
Het |
| Cfap221 |
A |
G |
1: 119,909,504 (GRCm39) |
V156A |
possibly damaging |
Het |
| Chrm4 |
C |
T |
2: 91,758,563 (GRCm39) |
P324S |
probably benign |
Het |
| Chrna1 |
T |
A |
2: 73,400,850 (GRCm39) |
M227L |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,952,075 (GRCm39) |
D639G |
probably damaging |
Het |
| Cts8 |
A |
G |
13: 61,401,882 (GRCm39) |
V5A |
probably benign |
Het |
| Cxcl2 |
A |
T |
5: 91,052,088 (GRCm39) |
T65S |
probably damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,552,411 (GRCm39) |
R368L |
probably benign |
Het |
| D630023F18Rik |
A |
T |
1: 65,147,939 (GRCm39) |
S205T |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,229,401 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
G |
A |
13: 45,084,615 (GRCm39) |
T175I |
probably benign |
Het |
| Dtx3 |
A |
G |
10: 127,026,882 (GRCm39) |
L332P |
probably damaging |
Het |
| E2f4 |
A |
G |
8: 106,024,451 (GRCm39) |
T27A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,856,758 (GRCm39) |
F1163L |
unknown |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
| Fbxo40 |
T |
C |
16: 36,790,387 (GRCm39) |
D241G |
probably benign |
Het |
| Fus |
T |
C |
7: 127,571,749 (GRCm39) |
S184P |
unknown |
Het |
| Gabarap |
C |
A |
11: 69,883,498 (GRCm39) |
T87N |
possibly damaging |
Het |
| Gbp10 |
A |
C |
5: 105,372,235 (GRCm39) |
V175G |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,646 (GRCm39) |
Y368H |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,778,011 (GRCm39) |
Y529H |
probably damaging |
Het |
| Lvrn |
C |
A |
18: 46,983,632 (GRCm39) |
T125K |
possibly damaging |
Het |
| Ms4a6c |
T |
A |
19: 11,455,660 (GRCm39) |
S156R |
probably benign |
Het |
| Nab2 |
C |
A |
10: 127,502,266 (GRCm39) |
R21L |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,136,827 (GRCm39) |
M3218K |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,663 (GRCm39) |
D749G |
probably benign |
Het |
| Nxpe5 |
A |
T |
5: 138,228,804 (GRCm39) |
Q7L |
probably benign |
Het |
| Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,986,598 (GRCm39) |
M101L |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,269 (GRCm39) |
E89D |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,689 (GRCm39) |
I72V |
possibly damaging |
Het |
| Pla2g5 |
A |
G |
4: 138,531,917 (GRCm39) |
I29T |
probably damaging |
Het |
| Prpf31 |
C |
T |
7: 3,643,917 (GRCm39) |
T499I |
probably damaging |
Het |
| Rnf130 |
T |
A |
11: 49,986,623 (GRCm39) |
D322E |
probably benign |
Het |
| Ros1 |
T |
C |
10: 51,964,014 (GRCm39) |
N1770D |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,428,548 (GRCm39) |
D202E |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,359 (GRCm39) |
I902M |
probably damaging |
Het |
| Slc12a8 |
A |
T |
16: 33,361,348 (GRCm39) |
M77L |
probably benign |
Het |
| Slc35f2 |
G |
A |
9: 53,724,224 (GRCm39) |
G366D |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,264,984 (GRCm39) |
D674G |
probably damaging |
Het |
| Smok2a |
A |
C |
17: 13,445,791 (GRCm39) |
E456A |
probably benign |
Het |
| Stip1 |
T |
C |
19: 7,011,618 (GRCm39) |
N139S |
probably benign |
Het |
| Taar8c |
C |
T |
10: 23,977,015 (GRCm39) |
V266M |
probably benign |
Het |
| Tank |
T |
A |
2: 61,474,758 (GRCm39) |
I204N |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,694,020 (GRCm39) |
T714A |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,820,457 (GRCm39) |
F334I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,645,969 (GRCm39) |
S2023T |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,696,218 (GRCm39) |
H2741R |
|
Het |
| Wnt10a |
G |
T |
1: 74,842,376 (GRCm39) |
R284L |
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 |
|
|
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 |
9,855,055 (GRCm39) |
missense |
unknown |
|
|
R4785:Incenp
|
UTSW |
19 |
9,855,054 (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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACAAGATTAGGTGTGTCCTTC -3'
(R):5'- GAAGCTTGCTTTTGGAGAGTCC -3'
Sequencing Primer
(F):5'- ACAAGATTAGGTGTGTCCTTCCTCTC -3'
(R):5'- GCTGTTGGCTTTAAGCTGATGTCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation