Incidental Mutation 'R9491:Incenp'
| ID |
716961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Incenp
|
| Ensembl Gene |
ENSMUSG00000024660 |
| Gene Name |
inner centromere protein |
| Synonyms |
2700067E22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
9849659-9876853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9854141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 637
(K637E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025562]
|
| AlphaFold |
Q9WU62 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025562
AA Change: K637E
|
| SMART Domains |
Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: K637E
| 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: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
A |
9: 106,312,994 (GRCm39) |
T142I |
probably damaging |
Het |
| Adcy9 |
T |
C |
16: 4,236,052 (GRCm39) |
E453G |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,838,339 (GRCm39) |
|
probably null |
Het |
| Asmt |
G |
A |
X: 169,108,405 (GRCm39) |
G103D |
possibly damaging |
Het |
| Cap2 |
C |
T |
13: 46,791,366 (GRCm39) |
P290S |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,800,505 (GRCm39) |
|
probably null |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Clstn1 |
T |
C |
4: 149,731,929 (GRCm39) |
S950P |
probably damaging |
Het |
| Cluap1 |
G |
A |
16: 3,758,732 (GRCm39) |
R398Q |
probably benign |
Het |
| Cmbl |
G |
T |
15: 31,582,119 (GRCm39) |
V39L |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,877,369 (GRCm39) |
D536G |
probably benign |
Het |
| Ddx3y |
T |
A |
Y: 1,279,465 (GRCm39) |
D133V |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,156,907 (GRCm39) |
S525T |
probably benign |
Het |
| Eif2s2 |
T |
C |
2: 154,734,630 (GRCm39) |
|
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gadd45a |
A |
T |
6: 67,012,730 (GRCm39) |
D137E |
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,415,602 (GRCm39) |
D120G |
probably damaging |
Het |
| Gpr156 |
A |
T |
16: 37,825,704 (GRCm39) |
R640S |
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,746,995 (GRCm39) |
M414K |
|
Het |
| Gtse1 |
C |
T |
15: 85,755,734 (GRCm39) |
P466L |
probably damaging |
Het |
| H6pd |
T |
A |
4: 150,080,366 (GRCm39) |
N160Y |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,452,981 (GRCm39) |
L496R |
probably damaging |
Het |
| Hnrnpk |
G |
T |
13: 58,541,050 (GRCm39) |
Q441K |
probably benign |
Het |
| Irgc |
C |
T |
7: 24,132,349 (GRCm39) |
R156H |
probably benign |
Het |
| Kazn |
C |
T |
4: 141,845,436 (GRCm39) |
A383T |
|
Het |
| Lmln |
A |
G |
16: 32,890,358 (GRCm39) |
E169G |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,852 (GRCm39) |
C326* |
probably null |
Het |
| Ncoa1 |
T |
A |
12: 4,340,912 (GRCm39) |
D840V |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,300,875 (GRCm39) |
D81G |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,606 (GRCm39) |
T140A |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,278,971 (GRCm39) |
V33A |
possibly damaging |
Het |
| Parp4 |
G |
A |
14: 56,832,828 (GRCm39) |
E384K |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,895 (GRCm39) |
L430H |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,056 (GRCm39) |
Y861C |
probably damaging |
Het |
| Pheta1 |
G |
A |
5: 121,991,051 (GRCm39) |
A138T |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,772,359 (GRCm39) |
Y337F |
probably benign |
Het |
| Prcc |
A |
G |
3: 87,774,671 (GRCm39) |
V377A |
probably benign |
Het |
| Prrg2 |
T |
A |
7: 44,706,218 (GRCm39) |
Y133F |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,733,813 (GRCm39) |
V901A |
probably damaging |
Het |
| Rgl1 |
A |
G |
1: 152,424,869 (GRCm39) |
L335P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,037,835 (GRCm39) |
M1440K |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,667,020 (GRCm39) |
|
probably null |
Het |
| Tbpl2 |
T |
C |
2: 23,986,532 (GRCm39) |
I6V |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,188,689 (GRCm39) |
H516L |
|
Het |
| Tmem8b |
C |
T |
4: 43,673,938 (GRCm39) |
R190C |
probably damaging |
Het |
| Tpmt |
A |
T |
13: 47,180,752 (GRCm39) |
S196T |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,472 (GRCm39) |
N478S |
unknown |
Het |
| Vstm5 |
T |
G |
9: 15,168,586 (GRCm39) |
I50S |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,616 (GRCm39) |
C285* |
probably null |
Het |
| Zdhhc23 |
A |
C |
16: 43,794,062 (GRCm39) |
V204G |
probably benign |
Het |
| Zfp653 |
T |
A |
9: 21,969,622 (GRCm39) |
K215* |
probably null |
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 |
|
|
R8293:Incenp
|
UTSW |
19 |
9,852,497 (GRCm39) |
nonsense |
probably null |
|
|
R9005:Incenp
|
UTSW |
19 |
9,855,088 (GRCm39) |
nonsense |
probably null |
|
|
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'- CACACAGGACAGTAGTAAATGGTC -3'
(R):5'- GTCCTACCTGATGTCATGGTGG -3'
Sequencing Primer
(F):5'- TCACCTCTTGGCCCGAAGAC -3'
(R):5'- GTAGTCAGTGCCTTAGGAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation