Incidental Mutation 'R4063:Incenp'
| ID |
315992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Incenp
|
| Ensembl Gene |
ENSMUSG00000024660 |
| Gene Name |
inner centromere protein |
| Synonyms |
2700067E22Rik |
| MMRRC Submission |
041619-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4063 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
9849659-9876853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9861142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 480
(M480K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025562]
|
| AlphaFold |
Q9WU62 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025562
AA Change: M480K
|
| SMART Domains |
Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: M480K
| 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 |
|
| Meta Mutation Damage Score |
0.1286 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (59/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
T |
6: 146,854,606 (GRCm39) |
F145L |
probably benign |
Het |
| Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,130,575 (GRCm39) |
D421G |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,011,444 (GRCm39) |
M88L |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,157,588 (GRCm39) |
*413W |
probably null |
Het |
| B4galt7 |
C |
A |
13: 55,756,152 (GRCm39) |
|
probably null |
Het |
| Bltp3b |
A |
G |
10: 89,651,917 (GRCm39) |
N247S |
probably benign |
Het |
| C8g |
A |
T |
2: 25,389,425 (GRCm39) |
S147T |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,426,792 (GRCm39) |
Y510N |
possibly damaging |
Het |
| Cnot2 |
A |
G |
10: 116,373,301 (GRCm39) |
V34A |
possibly damaging |
Het |
| Cyb5d2 |
A |
T |
11: 72,686,606 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,421,144 (GRCm39) |
I3827T |
probably damaging |
Het |
| Dnah7a |
G |
T |
1: 53,464,376 (GRCm39) |
Q3672K |
probably benign |
Het |
| Dock1 |
A |
T |
7: 134,717,021 (GRCm39) |
Y1219F |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Gm10719 |
G |
T |
9: 3,019,043 (GRCm39) |
W96L |
probably damaging |
Het |
| H2-M2 |
G |
A |
17: 37,792,399 (GRCm39) |
H291Y |
probably damaging |
Het |
| Hmgcl |
T |
C |
4: 135,686,035 (GRCm39) |
Y167H |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,502,400 (GRCm39) |
D73V |
possibly damaging |
Het |
| Irag1 |
G |
T |
7: 110,522,984 (GRCm39) |
A359D |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
| Lipf |
A |
G |
19: 33,942,965 (GRCm39) |
N91S |
probably benign |
Het |
| M1ap |
A |
T |
6: 82,980,756 (GRCm39) |
N214I |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,057,005 (GRCm39) |
C826R |
probably damaging |
Het |
| Msx1 |
C |
A |
5: 37,981,365 (GRCm39) |
A105S |
probably benign |
Het |
| Or5ac23 |
A |
C |
16: 59,149,243 (GRCm39) |
S210A |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Ppp1r13l |
A |
T |
7: 19,103,978 (GRCm39) |
H153L |
probably benign |
Het |
| Pramel21 |
A |
G |
4: 143,342,559 (GRCm39) |
D222G |
possibly damaging |
Het |
| Pramel29 |
T |
C |
4: 143,935,265 (GRCm39) |
K161E |
possibly damaging |
Het |
| Proz |
A |
G |
8: 13,114,621 (GRCm39) |
Y85C |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,597,613 (GRCm39) |
Q131L |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,472,077 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,635,091 (GRCm39) |
I719N |
probably benign |
Het |
| Slc18b1 |
A |
T |
10: 23,681,879 (GRCm39) |
I148L |
probably benign |
Het |
| Tacc2 |
G |
T |
7: 130,330,852 (GRCm39) |
D2086Y |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,354,298 (GRCm39) |
L1246P |
unknown |
Het |
| Tmprss11d |
T |
C |
5: 86,457,177 (GRCm39) |
I161V |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,725,172 (GRCm39) |
D268G |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,289,727 (GRCm39) |
R895H |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,945,079 (GRCm39) |
I366T |
possibly damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,725 (GRCm39) |
I100V |
probably benign |
Het |
| Upp1 |
C |
A |
11: 9,081,709 (GRCm39) |
P82Q |
probably damaging |
Het |
| Vim |
A |
G |
2: 13,584,827 (GRCm39) |
|
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
| Zdhhc14 |
G |
T |
17: 5,802,983 (GRCm39) |
C362F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
| Zswim5 |
G |
A |
4: 116,735,177 (GRCm39) |
G174D |
unknown |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGAACTCGATCGCCCATC -3'
(R):5'- AAGATGAAGAACTGCAGCCC -3'
Sequencing Primer
(F):5'- GATCGCCCATCAGTGTCTGAC -3'
(R):5'- CTGCCAGAATAAGACCCCTTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation