Incidental Mutation 'R6959:Incenp'
| ID |
541684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Incenp
|
| Ensembl Gene |
ENSMUSG00000024660 |
| Gene Name |
inner centromere protein |
| Synonyms |
2700067E22Rik |
| MMRRC Submission |
045069-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
9849659-9876853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9854134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 639
(E639G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025562]
|
| AlphaFold |
Q9WU62 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025562
AA Change: E639G
|
| SMART Domains |
Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: E639G
| 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: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
| Validation Efficiency |
94% (61/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
G |
A |
11: 70,507,485 (GRCm39) |
G177R |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,927,249 (GRCm39) |
T292A |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,870,467 (GRCm39) |
D173E |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,021,338 (GRCm39) |
V2154G |
probably damaging |
Het |
| Btnl2 |
G |
A |
17: 34,582,333 (GRCm39) |
V300M |
possibly damaging |
Het |
| Calcrl |
A |
T |
2: 84,200,428 (GRCm39) |
N117K |
possibly damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,052 (GRCm39) |
S83P |
probably damaging |
Het |
| Ccdc196 |
A |
G |
12: 78,249,070 (GRCm39) |
K139E |
probably damaging |
Het |
| Ccl22 |
A |
T |
8: 95,473,528 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
T |
A |
16: 44,610,539 (GRCm39) |
S216T |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,278,906 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
A |
G |
2: 32,674,260 (GRCm39) |
I47T |
probably damaging |
Het |
| Chodl |
G |
A |
16: 78,743,572 (GRCm39) |
V220I |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,479,807 (GRCm39) |
T225A |
probably benign |
Het |
| Duoxa1 |
T |
C |
2: 122,134,318 (GRCm39) |
S267G |
probably damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,341,507 (GRCm39) |
S164N |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,908,181 (GRCm39) |
D2607G |
possibly damaging |
Het |
| Galnt5 |
A |
G |
2: 57,889,231 (GRCm39) |
D277G |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,612,006 (GRCm39) |
I212T |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,038,213 (GRCm39) |
|
probably null |
Het |
| Gm5478 |
T |
C |
15: 101,553,883 (GRCm39) |
D243G |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 121,297,710 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,246,600 (GRCm39) |
Q1096L |
probably benign |
Het |
| Hycc1 |
T |
C |
5: 24,196,754 (GRCm39) |
I45V |
possibly damaging |
Het |
| Idh3b |
A |
G |
2: 130,123,447 (GRCm39) |
V181A |
probably damaging |
Het |
| Igf2bp3 |
T |
C |
6: 49,094,082 (GRCm39) |
|
probably null |
Het |
| Ikzf2 |
A |
G |
1: 69,577,929 (GRCm39) |
*382Q |
probably null |
Het |
| Impg2 |
A |
C |
16: 56,088,693 (GRCm39) |
H1073P |
probably benign |
Het |
| Kcne4 |
A |
G |
1: 78,795,603 (GRCm39) |
M84V |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,957,713 (GRCm39) |
F1004I |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 16,222,820 (GRCm39) |
I2040V |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,485,878 (GRCm39) |
D110G |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 82,009,076 (GRCm39) |
V1237A |
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,752,495 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,145,883 (GRCm39) |
F1293L |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,440,294 (GRCm39) |
T280A |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,928,411 (GRCm39) |
A6085E |
probably damaging |
Het |
| Or51b6b |
T |
A |
7: 103,310,050 (GRCm39) |
I136F |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,375,993 (GRCm39) |
A1381T |
probably benign |
Het |
| Pramel41 |
T |
A |
5: 94,594,891 (GRCm39) |
N250K |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,621 (GRCm39) |
V1462A |
probably damaging |
Het |
| Rbx1 |
T |
A |
15: 81,355,163 (GRCm39) |
C56* |
probably null |
Het |
| Reln |
A |
G |
5: 22,181,562 (GRCm39) |
S1774P |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
| Sarnp |
T |
C |
10: 128,684,137 (GRCm39) |
V111A |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,513,636 (GRCm39) |
Q345K |
probably benign |
Het |
| Slc18b1 |
A |
G |
10: 23,701,942 (GRCm39) |
|
probably null |
Het |
| Slc37a2 |
T |
A |
9: 37,152,630 (GRCm39) |
T64S |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,395,727 (GRCm39) |
D710G |
possibly damaging |
Het |
| Srp72 |
T |
A |
5: 77,142,070 (GRCm39) |
Y375N |
possibly damaging |
Het |
| Tmco4 |
T |
A |
4: 138,737,810 (GRCm39) |
V135D |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,802,955 (GRCm39) |
D335G |
probably damaging |
Het |
| Tsfm |
T |
C |
10: 126,858,778 (GRCm39) |
M196V |
probably benign |
Het |
| Tspan10 |
T |
A |
11: 120,335,522 (GRCm39) |
C211S |
probably damaging |
Het |
| Ttc21b |
A |
T |
2: 66,061,656 (GRCm39) |
M498K |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,704,928 (GRCm39) |
|
probably null |
Het |
| Ttll1 |
G |
T |
15: 83,386,397 (GRCm39) |
Y69* |
probably null |
Het |
| Usp28 |
T |
A |
9: 48,912,842 (GRCm39) |
L31H |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,400 (GRCm39) |
S739P |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,533,555 (GRCm39) |
F64I |
probably damaging |
Het |
| Ywhaq |
A |
G |
12: 21,446,281 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,150,409 (GRCm39) |
S459P |
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 |
|
|
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'- CACACAGGACAGTAGTAAATGGTC -3'
(R):5'- ATTGTCAAGGAGTCTGGCGG -3'
Sequencing Primer
(F):5'- TCACCTCTTGGCCCGAAGAC -3'
(R):5'- CGTCCTACCTGATGTCATGGTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation