Incidental Mutation 'IGL02647:Cenpj'
ID |
301983 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cenpj
|
Ensembl Gene |
ENSMUSG00000064128 |
Gene Name |
centromere protein J |
Synonyms |
4932437H03Rik, Sas4 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02647
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56767536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 1203
(V1203M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065302]
[ENSMUST00000225951]
|
AlphaFold |
Q569L8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065302
AA Change: V1203M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000065949 Gene: ENSMUSG00000064128 AA Change: V1203M
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
76 |
N/A |
INTRINSIC |
coiled coil region
|
140 |
185 |
N/A |
INTRINSIC |
low complexity region
|
330 |
350 |
N/A |
INTRINSIC |
low complexity region
|
547 |
570 |
N/A |
INTRINSIC |
low complexity region
|
860 |
871 |
N/A |
INTRINSIC |
coiled coil region
|
899 |
1046 |
N/A |
INTRINSIC |
low complexity region
|
1144 |
1154 |
N/A |
INTRINSIC |
Pfam:Tcp10_C
|
1167 |
1342 |
5.1e-90 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225951
AA Change: V1203M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226026
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229861
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] PHENOTYPE: Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
T |
14: 29,712,847 (GRCm39) |
R497W |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bmx |
T |
C |
X: 162,988,231 (GRCm39) |
E495G |
probably damaging |
Het |
Cbx5 |
T |
C |
15: 103,109,330 (GRCm39) |
|
probably null |
Het |
Ces1b |
T |
C |
8: 93,783,672 (GRCm39) |
H516R |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,078,611 (GRCm39) |
N1235S |
probably damaging |
Het |
Depdc1a |
A |
T |
3: 159,228,503 (GRCm39) |
K418N |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,114,355 (GRCm39) |
V1215M |
probably damaging |
Het |
Flacc1 |
T |
C |
1: 58,709,613 (GRCm39) |
T181A |
probably benign |
Het |
Foxf2 |
A |
T |
13: 31,811,218 (GRCm39) |
N386Y |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,919,991 (GRCm39) |
V455E |
probably damaging |
Het |
Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
Hnmt |
G |
A |
2: 23,904,319 (GRCm39) |
S114F |
possibly damaging |
Het |
Irf3 |
A |
G |
7: 44,649,800 (GRCm39) |
N6S |
probably benign |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Lrba |
A |
G |
3: 86,267,038 (GRCm39) |
D1576G |
probably benign |
Het |
Lsg1 |
A |
T |
16: 30,404,370 (GRCm39) |
|
probably null |
Het |
Mal2 |
T |
C |
15: 54,451,833 (GRCm39) |
F85L |
probably damaging |
Het |
Me2 |
A |
C |
18: 73,930,974 (GRCm39) |
S106R |
probably benign |
Het |
Med21 |
T |
C |
6: 146,550,731 (GRCm39) |
S81P |
probably benign |
Het |
Mos |
T |
C |
4: 3,870,961 (GRCm39) |
Y285C |
probably damaging |
Het |
Mtmr1 |
A |
G |
X: 70,436,939 (GRCm39) |
N256S |
probably damaging |
Het |
Or7e174 |
T |
A |
9: 20,012,505 (GRCm39) |
M150K |
probably benign |
Het |
Prl3d2 |
A |
C |
13: 27,309,999 (GRCm39) |
T155P |
probably benign |
Het |
R3hdm2 |
C |
T |
10: 127,295,353 (GRCm39) |
S240L |
probably damaging |
Het |
Semp2l2a |
T |
C |
8: 13,886,979 (GRCm39) |
T371A |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,985,088 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
G |
15: 37,992,326 (GRCm39) |
S1933P |
probably damaging |
Het |
Veph1 |
A |
T |
3: 66,066,869 (GRCm39) |
|
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,922,905 (GRCm39) |
F557S |
probably damaging |
Het |
Zfp647 |
T |
C |
15: 76,801,915 (GRCm39) |
E30G |
probably damaging |
Het |
Zfp655 |
A |
T |
5: 145,179,816 (GRCm39) |
I75L |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,621,709 (GRCm39) |
Y211* |
probably null |
Het |
|
Other mutations in Cenpj |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00565:Cenpj
|
APN |
14 |
56,790,487 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00969:Cenpj
|
APN |
14 |
56,802,420 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01152:Cenpj
|
APN |
14 |
56,789,757 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01475:Cenpj
|
APN |
14 |
56,802,502 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01548:Cenpj
|
APN |
14 |
56,769,776 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01893:Cenpj
|
APN |
14 |
56,790,931 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02683:Cenpj
|
APN |
14 |
56,790,409 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02691:Cenpj
|
APN |
14 |
56,789,547 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03008:Cenpj
|
APN |
14 |
56,764,406 (GRCm39) |
missense |
probably benign |
0.39 |
R0206:Cenpj
|
UTSW |
14 |
56,801,427 (GRCm39) |
missense |
probably benign |
0.00 |
R0208:Cenpj
|
UTSW |
14 |
56,801,427 (GRCm39) |
missense |
probably benign |
0.00 |
R0356:Cenpj
|
UTSW |
14 |
56,786,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R0942:Cenpj
|
UTSW |
14 |
56,792,666 (GRCm39) |
unclassified |
probably benign |
|
R1392:Cenpj
|
UTSW |
14 |
56,772,311 (GRCm39) |
splice site |
probably benign |
|
R1564:Cenpj
|
UTSW |
14 |
56,789,523 (GRCm39) |
missense |
probably benign |
0.43 |
R1671:Cenpj
|
UTSW |
14 |
56,802,502 (GRCm39) |
missense |
probably damaging |
0.99 |
R1889:Cenpj
|
UTSW |
14 |
56,796,182 (GRCm39) |
missense |
probably benign |
0.43 |
R2059:Cenpj
|
UTSW |
14 |
56,801,412 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2140:Cenpj
|
UTSW |
14 |
56,764,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Cenpj
|
UTSW |
14 |
56,769,694 (GRCm39) |
missense |
probably null |
0.98 |
R2866:Cenpj
|
UTSW |
14 |
56,789,637 (GRCm39) |
missense |
probably benign |
0.01 |
R3813:Cenpj
|
UTSW |
14 |
56,790,679 (GRCm39) |
missense |
probably benign |
0.05 |
R4620:Cenpj
|
UTSW |
14 |
56,772,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R4670:Cenpj
|
UTSW |
14 |
56,790,840 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4671:Cenpj
|
UTSW |
14 |
56,790,840 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4765:Cenpj
|
UTSW |
14 |
56,787,002 (GRCm39) |
nonsense |
probably null |
|
R4915:Cenpj
|
UTSW |
14 |
56,791,175 (GRCm39) |
missense |
probably damaging |
0.98 |
R4930:Cenpj
|
UTSW |
14 |
56,772,238 (GRCm39) |
nonsense |
probably null |
|
R5088:Cenpj
|
UTSW |
14 |
56,791,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R5523:Cenpj
|
UTSW |
14 |
56,789,880 (GRCm39) |
missense |
probably benign |
0.00 |
R5527:Cenpj
|
UTSW |
14 |
56,764,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R5717:Cenpj
|
UTSW |
14 |
56,790,978 (GRCm39) |
frame shift |
probably null |
|
R5944:Cenpj
|
UTSW |
14 |
56,791,115 (GRCm39) |
critical splice donor site |
probably null |
|
R5975:Cenpj
|
UTSW |
14 |
56,801,523 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6019:Cenpj
|
UTSW |
14 |
56,772,272 (GRCm39) |
missense |
probably benign |
0.01 |
R6291:Cenpj
|
UTSW |
14 |
56,789,433 (GRCm39) |
missense |
probably benign |
0.01 |
R6948:Cenpj
|
UTSW |
14 |
56,790,683 (GRCm39) |
missense |
probably damaging |
0.96 |
R7212:Cenpj
|
UTSW |
14 |
56,790,109 (GRCm39) |
missense |
probably benign |
0.00 |
R7461:Cenpj
|
UTSW |
14 |
56,764,501 (GRCm39) |
nonsense |
probably null |
|
R7613:Cenpj
|
UTSW |
14 |
56,764,501 (GRCm39) |
nonsense |
probably null |
|
R7634:Cenpj
|
UTSW |
14 |
56,780,257 (GRCm39) |
missense |
probably benign |
0.00 |
R7837:Cenpj
|
UTSW |
14 |
56,796,185 (GRCm39) |
missense |
probably benign |
0.02 |
R8722:Cenpj
|
UTSW |
14 |
56,772,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Cenpj
|
UTSW |
14 |
56,796,076 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8813:Cenpj
|
UTSW |
14 |
56,790,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R8842:Cenpj
|
UTSW |
14 |
56,780,329 (GRCm39) |
missense |
probably damaging |
0.97 |
R8916:Cenpj
|
UTSW |
14 |
56,790,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Cenpj
|
UTSW |
14 |
56,764,383 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9128:Cenpj
|
UTSW |
14 |
56,780,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R9227:Cenpj
|
UTSW |
14 |
56,802,176 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9229:Cenpj
|
UTSW |
14 |
56,802,176 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9624:Cenpj
|
UTSW |
14 |
56,802,387 (GRCm39) |
missense |
probably benign |
0.01 |
R9686:Cenpj
|
UTSW |
14 |
56,790,048 (GRCm39) |
missense |
probably benign |
0.01 |
R9717:Cenpj
|
UTSW |
14 |
56,790,453 (GRCm39) |
missense |
probably benign |
0.02 |
RF007:Cenpj
|
UTSW |
14 |
56,767,505 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Cenpj
|
UTSW |
14 |
56,790,336 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Posted On |
2015-04-16 |