Incidental Mutation 'R6413:Cenpt'
| ID |
514819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpt
|
| Ensembl Gene |
ENSMUSG00000036672 |
| Gene Name |
centromere protein T |
| Synonyms |
G630055P03Rik |
| MMRRC Submission |
044555-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106571305-106579910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106572973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 373
(P373S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034365]
[ENSMUST00000040776]
[ENSMUST00000212431]
[ENSMUST00000212552]
[ENSMUST00000212566]
[ENSMUST00000212839]
|
| AlphaFold |
Q3TJM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034365
|
| SMART Domains |
Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSNAXIP1_N
|
98 |
209 |
3.5e-33 |
PFAM |
|
coiled coil region
|
304 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040776
AA Change: P373S
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672
AA Change: P373S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-T_N
|
1 |
374 |
4.2e-174 |
PFAM |
|
Pfam:CENP-T_C
|
404 |
507 |
5.4e-36 |
PFAM |
|
Pfam:CENP-S
|
424 |
479 |
3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212204
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212839
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
A |
13: 119,624,647 (GRCm39) |
|
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,647,834 (GRCm39) |
V662A |
possibly damaging |
Het |
| Ambra1 |
T |
G |
2: 91,599,429 (GRCm39) |
V183G |
possibly damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,377,290 (GRCm39) |
S208P |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,417,654 (GRCm39) |
V133I |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,129 (GRCm39) |
K805R |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,182,583 (GRCm39) |
Q270R |
probably benign |
Het |
| Cabp2 |
G |
A |
19: 4,135,698 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
A |
G |
15: 98,441,850 (GRCm39) |
S473P |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,254 (GRCm39) |
D182V |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,765,127 (GRCm39) |
T799A |
probably benign |
Het |
| Dtna |
T |
A |
18: 23,755,071 (GRCm39) |
D464E |
probably damaging |
Het |
| E030025P04Rik |
T |
C |
11: 109,030,425 (GRCm39) |
Y154C |
unknown |
Het |
| Ephb2 |
C |
A |
4: 136,498,433 (GRCm39) |
E215D |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,724 (GRCm39) |
D445G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,683 (GRCm39) |
L2198F |
unknown |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,607,181 (GRCm39) |
F496L |
probably benign |
Het |
| Numa1 |
A |
T |
7: 101,639,778 (GRCm39) |
|
probably null |
Het |
| Papola |
T |
C |
12: 105,772,763 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,607,440 (GRCm39) |
E1255G |
probably damaging |
Het |
| Rgs8 |
A |
T |
1: 153,568,619 (GRCm39) |
D168V |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,004,522 (GRCm39) |
V1486A |
probably damaging |
Het |
| Rpa2 |
G |
T |
4: 132,501,156 (GRCm39) |
A118S |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,953 (GRCm39) |
I110F |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,166,921 (GRCm39) |
Y112C |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,986 (GRCm39) |
Y43H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,963,955 (GRCm39) |
E514G |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,963,387 (GRCm39) |
F388S |
probably benign |
Het |
| Spmip6 |
A |
T |
4: 41,505,135 (GRCm39) |
V196D |
possibly damaging |
Het |
| Tmem176b |
T |
C |
6: 48,815,266 (GRCm39) |
N9S |
possibly damaging |
Het |
| Trip11 |
T |
A |
12: 101,851,790 (GRCm39) |
Q758L |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,720,856 (GRCm39) |
I231N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,730,397 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,870,973 (GRCm39) |
N770S |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,544 (GRCm39) |
Y471* |
probably null |
Het |
| Vmn2r8 |
T |
G |
5: 108,949,589 (GRCm39) |
E419D |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,689,604 (GRCm39) |
L2818F |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,308,205 (GRCm39) |
Y477F |
probably damaging |
Het |
|
| Other mutations in Cenpt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Cenpt
|
APN |
8 |
106,573,297 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01970:Cenpt
|
APN |
8 |
106,571,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03141:Cenpt
|
APN |
8 |
106,578,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03403:Cenpt
|
APN |
8 |
106,576,297 (GRCm39) |
nonsense |
probably null |
|
|
gold_medal
|
UTSW |
8 |
106,575,646 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0089:Cenpt
|
UTSW |
8 |
106,573,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0508:Cenpt
|
UTSW |
8 |
106,576,147 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0648:Cenpt
|
UTSW |
8 |
106,571,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1460:Cenpt
|
UTSW |
8 |
106,575,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Cenpt
|
UTSW |
8 |
106,575,646 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4117:Cenpt
|
UTSW |
8 |
106,576,332 (GRCm39) |
missense |
probably benign |
|
|
R4732:Cenpt
|
UTSW |
8 |
106,573,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4733:Cenpt
|
UTSW |
8 |
106,573,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6246:Cenpt
|
UTSW |
8 |
106,575,891 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6582:Cenpt
|
UTSW |
8 |
106,575,833 (GRCm39) |
nonsense |
probably null |
|
|
R7299:Cenpt
|
UTSW |
8 |
106,576,536 (GRCm39) |
nonsense |
probably null |
|
|
R9057:Cenpt
|
UTSW |
8 |
106,576,405 (GRCm39) |
makesense |
probably null |
|
|
R9232:Cenpt
|
UTSW |
8 |
106,571,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9442:Cenpt
|
UTSW |
8 |
106,575,418 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTACACATCTTGGGTCAGG -3'
(R):5'- ACAGAAGAGAATTTGCCCCG -3'
Sequencing Primer
(F):5'- GTCAGGCACCAGGACGG -3'
(R):5'- AACTGGTAGTTTCAGGGGCCAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation