Incidental Mutation 'R8258:Incenp'
| ID |
640104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Incenp
|
| Ensembl Gene |
ENSMUSG00000024660 |
| Gene Name |
inner centromere protein |
| Synonyms |
2700067E22Rik |
| MMRRC Submission |
067684-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8258 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
9849659-9876853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 9871005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 208
(T208R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025562]
|
| AlphaFold |
Q9WU62 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025562
AA Change: T208R
|
| SMART Domains |
Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: T208R
| 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 |
100% (55/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
G |
17: 84,983,523 (GRCm39) |
T144P |
possibly damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,628,417 (GRCm39) |
N263S |
probably null |
Het |
| Aebp2 |
A |
T |
6: 140,583,453 (GRCm39) |
Q309L |
possibly damaging |
Het |
| Akap7 |
A |
G |
10: 25,047,054 (GRCm39) |
Y281H |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,299,859 (GRCm39) |
A588T |
probably damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,624,228 (GRCm39) |
D236G |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,208,077 (GRCm39) |
D470E |
probably benign |
Het |
| Capn8 |
G |
T |
1: 182,392,698 (GRCm39) |
V25L |
probably benign |
Het |
| Card10 |
A |
G |
15: 78,660,884 (GRCm39) |
V1041A |
probably damaging |
Het |
| Ccr1 |
T |
A |
9: 123,764,119 (GRCm39) |
H137L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,151,435 (GRCm39) |
D2483E |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,085,532 (GRCm39) |
Q1701K |
probably benign |
Het |
| Cimap2 |
C |
T |
4: 106,448,859 (GRCm39) |
G400S |
probably damaging |
Het |
| Ckmt2 |
T |
A |
13: 92,007,335 (GRCm39) |
R286S |
probably damaging |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,214 (GRCm39) |
D133V |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,476,458 (GRCm39) |
I283F |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,901,887 (GRCm39) |
V3046A |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,063,763 (GRCm39) |
V3A |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,795,702 (GRCm39) |
S76P |
possibly damaging |
Het |
| Fgg |
C |
T |
3: 82,917,477 (GRCm39) |
Q169* |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,450,666 (GRCm39) |
V558I |
probably benign |
Het |
| Gm4779 |
G |
C |
X: 100,837,390 (GRCm39) |
T171S |
possibly damaging |
Het |
| Mctp1 |
T |
A |
13: 76,949,666 (GRCm39) |
|
probably null |
Het |
| Megf8 |
T |
C |
7: 25,057,848 (GRCm39) |
M2095T |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,941,391 (GRCm39) |
V308I |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,139,341 (GRCm39) |
H580Q |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,920 (GRCm39) |
M47K |
probably benign |
Het |
| Nrxn1 |
C |
A |
17: 90,471,249 (GRCm39) |
R1260L |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,815 (GRCm39) |
I202V |
possibly damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,847 (GRCm39) |
L130P |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,458 (GRCm39) |
I173V |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,727 (GRCm39) |
M258T |
possibly damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,021 (GRCm39) |
W354* |
probably null |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,189,672 (GRCm39) |
R3052G |
unknown |
Het |
| Prx |
T |
C |
7: 27,218,808 (GRCm39) |
L1242P |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,707,633 (GRCm39) |
I183T |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,291,755 (GRCm39) |
E254G |
probably benign |
Het |
| Rhot2 |
C |
A |
17: 26,058,864 (GRCm39) |
R512L |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,193,550 (GRCm39) |
N594D |
probably benign |
Het |
| Rxfp2 |
T |
A |
5: 149,983,365 (GRCm39) |
I300K |
probably damaging |
Het |
| Scarf1 |
T |
A |
11: 75,414,689 (GRCm39) |
S486T |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,220,928 (GRCm39) |
V455A |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,148,653 (GRCm39) |
V686A |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,721,562 (GRCm39) |
E1206G |
probably benign |
Het |
| Syne2 |
C |
A |
12: 75,996,143 (GRCm39) |
Q2228K |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,198 (GRCm39) |
G1430S |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,511,492 (GRCm39) |
A253S |
probably benign |
Het |
| Trpm1 |
G |
A |
7: 63,918,777 (GRCm39) |
A1590T |
probably benign |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,686 (GRCm39) |
M144K |
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,421,114 (GRCm39) |
D68G |
probably benign |
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 |
9,870,993 (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'- GCACTGACCGAATATTCCCAAG -3'
(R):5'- ACAGTGCTGACCAAGAAAGC -3'
Sequencing Primer
(F):5'- TGGGCAAGATGTTATTCAGCAG -3'
(R):5'- CTGACCAAGAAAGCAGTGGTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation