Incidental Mutation 'R0843:Cenpn'
| ID |
77254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpn
|
| Ensembl Gene |
ENSMUSG00000031756 |
| Gene Name |
centromere protein N |
| Synonyms |
2610510J17Rik |
| MMRRC Submission |
039022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117648469-117668246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117660045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 125
(V125A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034205]
[ENSMUST00000212263]
[ENSMUST00000212775]
|
| AlphaFold |
Q9CZW2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034205
AA Change: V125A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000034205
Gene: ENSMUSG00000031756
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-N
|
3 |
337 |
3.4e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212184
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212263
AA Change: V38A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212775
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb2 |
T |
C |
18: 62,312,142 (GRCm39) |
R228G |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,922 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,846,828 (GRCm39) |
Y526C |
probably damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,572,568 (GRCm39) |
H963L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 31,032,069 (GRCm39) |
Y4130H |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,631,647 (GRCm39) |
T4448M |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,709,272 (GRCm39) |
|
probably benign |
Het |
| Fgf11 |
T |
G |
11: 69,689,602 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,161,717 (GRCm39) |
I347N |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Hspa1b |
T |
A |
17: 35,176,524 (GRCm39) |
N487I |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,738 (GRCm39) |
D40G |
possibly damaging |
Het |
| Iyd |
T |
C |
10: 3,495,663 (GRCm39) |
V107A |
possibly damaging |
Het |
| Kctd3 |
A |
T |
1: 188,729,170 (GRCm39) |
L129* |
probably null |
Het |
| Myo7b |
A |
G |
18: 32,107,137 (GRCm39) |
F1286S |
possibly damaging |
Het |
| Or4a47 |
C |
T |
2: 89,665,960 (GRCm39) |
V110I |
probably benign |
Het |
| Or52s1b |
T |
A |
7: 102,822,326 (GRCm39) |
T173S |
possibly damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,579 (GRCm39) |
F77I |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,632,182 (GRCm39) |
Y328F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,942,769 (GRCm39) |
L1810P |
probably benign |
Het |
| Polr2h |
T |
A |
16: 20,537,649 (GRCm39) |
V50E |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,364,895 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,525,259 (GRCm39) |
R741S |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,986 (GRCm39) |
E64G |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,609,471 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
T |
15: 81,594,703 (GRCm39) |
D375E |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,165,053 (GRCm39) |
R107C |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,329,706 (GRCm39) |
E140G |
probably damaging |
Het |
| Slitrk6 |
G |
T |
14: 110,987,530 (GRCm39) |
H726N |
probably benign |
Het |
| Spry2 |
A |
G |
14: 106,130,524 (GRCm39) |
C221R |
probably damaging |
Het |
| Stx2 |
C |
T |
5: 129,076,612 (GRCm39) |
V24M |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,842 (GRCm39) |
S238P |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,116,902 (GRCm39) |
|
probably null |
Het |
| Ttyh3 |
C |
A |
5: 140,612,201 (GRCm39) |
|
probably null |
Het |
| Vmn2r116 |
T |
C |
17: 23,619,934 (GRCm39) |
V556A |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,533,576 (GRCm39) |
|
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,709,328 (GRCm39) |
S514P |
probably benign |
Het |
| Zfp277 |
A |
C |
12: 40,370,599 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cenpn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Cenpn
|
APN |
8 |
117,655,326 (GRCm39) |
splice site |
probably null |
|
|
IGL02084:Cenpn
|
APN |
8 |
117,667,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Cenpn
|
UTSW |
8 |
117,667,559 (GRCm39) |
splice site |
probably benign |
|
|
R1166:Cenpn
|
UTSW |
8 |
117,652,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Cenpn
|
UTSW |
8 |
117,661,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Cenpn
|
UTSW |
8 |
117,661,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4512:Cenpn
|
UTSW |
8 |
117,660,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Cenpn
|
UTSW |
8 |
117,660,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Cenpn
|
UTSW |
8 |
117,660,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Cenpn
|
UTSW |
8 |
117,661,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5969:Cenpn
|
UTSW |
8 |
117,667,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Cenpn
|
UTSW |
8 |
117,663,904 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6795:Cenpn
|
UTSW |
8 |
117,652,887 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7143:Cenpn
|
UTSW |
8 |
117,663,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7556:Cenpn
|
UTSW |
8 |
117,664,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Cenpn
|
UTSW |
8 |
117,663,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8009:Cenpn
|
UTSW |
8 |
117,663,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8172:Cenpn
|
UTSW |
8 |
117,658,333 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9034:Cenpn
|
UTSW |
8 |
117,661,478 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9196:Cenpn
|
UTSW |
8 |
117,658,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9199:Cenpn
|
UTSW |
8 |
117,664,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9534:Cenpn
|
UTSW |
8 |
117,661,474 (GRCm39) |
nonsense |
probably null |
|
|
R9574:Cenpn
|
UTSW |
8 |
117,660,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCATGTGTCTTGTGGCAATG -3'
(R):5'- GACGGAGAAACGCTCTCCTTAGAAC -3'
Sequencing Primer
(F):5'- AAAAGACTGACAGGTGCCCA -3'
(R):5'- CTCTCCTTAGAACGGGAGGTAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation