Incidental Mutation 'R4029:Cenpq'
| ID |
313142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpq
|
| Ensembl Gene |
ENSMUSG00000023919 |
| Gene Name |
centromere protein Q |
| Synonyms |
2610528M18Rik |
| MMRRC Submission |
040959-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
R4029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
41233942-41245938 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41238140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 125
(T125A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087114]
|
| AlphaFold |
Q9CPQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087114
AA Change: T125A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084353
Gene: ENSMUSG00000023919
AA Change: T125A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-Q
|
118 |
268 |
7.4e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130890
|
| Meta Mutation Damage Score |
0.1034 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
| Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
| Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
| Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
| Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
|
| Other mutations in Cenpq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Cenpq
|
APN |
17 |
41,244,067 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01573:Cenpq
|
APN |
17 |
41,240,936 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02351:Cenpq
|
APN |
17 |
41,235,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Cenpq
|
APN |
17 |
41,235,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03395:Cenpq
|
APN |
17 |
41,234,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Cenpq
|
UTSW |
17 |
41,240,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Cenpq
|
UTSW |
17 |
41,244,085 (GRCm39) |
unclassified |
probably benign |
|
|
R1765:Cenpq
|
UTSW |
17 |
41,235,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6187:Cenpq
|
UTSW |
17 |
41,238,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6357:Cenpq
|
UTSW |
17 |
41,235,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Cenpq
|
UTSW |
17 |
41,243,720 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8810:Cenpq
|
UTSW |
17 |
41,244,027 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8874:Cenpq
|
UTSW |
17 |
41,242,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Cenpq
|
UTSW |
17 |
41,243,731 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9755:Cenpq
|
UTSW |
17 |
41,243,712 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0057:Cenpq
|
UTSW |
17 |
41,242,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCACTAATGCTATGATGCTTTTC -3'
(R):5'- GTAGCCTTAGCATTCCATGATTTGAG -3'
Sequencing Primer
(F):5'- AATGCTATGATGCTTTTCTCCTTG -3'
(R):5'- AGAGACTCATGGCTTCAGCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation