Incidental Mutation 'IGL01475:Cenpj'
| ID |
88436 |
| 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 # |
IGL01475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56802502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 21
(M21T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065302]
[ENSMUST00000225951]
|
| AlphaFold |
Q569L8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065302
AA Change: M21T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: M21T
| 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 |
possibly damaging
Transcript: ENSMUST00000225951
AA Change: M21T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
A |
T |
14: 59,380,252 (GRCm39) |
N15K |
possibly damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,664 (GRCm39) |
I587K |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,584,843 (GRCm39) |
S942G |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,750 (GRCm39) |
F104S |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,761,245 (GRCm39) |
D980G |
probably benign |
Het |
| Apba1 |
A |
T |
19: 23,894,950 (GRCm39) |
D462V |
possibly damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,634,433 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
T |
C |
18: 60,943,393 (GRCm39) |
|
probably benign |
Het |
| Cdc16 |
T |
C |
8: 13,831,542 (GRCm39) |
S592P |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,103,521 (GRCm39) |
L425S |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,313,908 (GRCm39) |
T25I |
possibly damaging |
Het |
| Dguok |
C |
A |
6: 83,467,552 (GRCm39) |
M98I |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,004,781 (GRCm39) |
L943P |
probably damaging |
Het |
| Eloa |
G |
A |
4: 135,738,231 (GRCm39) |
S243L |
probably benign |
Het |
| Enkur |
C |
A |
2: 21,201,530 (GRCm39) |
A52S |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,083,787 (GRCm39) |
E744G |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,672,101 (GRCm39) |
S190P |
possibly damaging |
Het |
| Foxb1 |
G |
A |
9: 69,666,550 (GRCm39) |
|
probably benign |
Het |
| Gabra5 |
C |
T |
7: 57,058,432 (GRCm39) |
G439S |
probably damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,541 (GRCm39) |
V207D |
probably damaging |
Het |
| Hoatz |
A |
G |
9: 51,011,358 (GRCm39) |
I93T |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,796,948 (GRCm39) |
V317A |
probably benign |
Het |
| Lair1 |
C |
A |
7: 4,012,683 (GRCm39) |
|
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,791,051 (GRCm39) |
H243Q |
probably damaging |
Het |
| Mast3 |
C |
T |
8: 71,232,174 (GRCm39) |
A1268T |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,316,671 (GRCm39) |
M4I |
possibly damaging |
Het |
| Mob1b |
T |
A |
5: 88,897,502 (GRCm39) |
F137I |
probably damaging |
Het |
| Mreg |
T |
C |
1: 72,203,325 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,651,272 (GRCm39) |
V684A |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,580,998 (GRCm39) |
L1Q |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,271,425 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,331,870 (GRCm39) |
F447L |
possibly damaging |
Het |
| Pno1 |
A |
T |
11: 17,160,992 (GRCm39) |
I114N |
probably damaging |
Het |
| Ppp1r7 |
T |
G |
1: 93,288,540 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
A |
19: 46,059,968 (GRCm39) |
Y1503N |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,484,930 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc15a4 |
T |
C |
5: 127,679,024 (GRCm39) |
T439A |
probably benign |
Het |
| Slc29a3 |
A |
G |
10: 60,559,596 (GRCm39) |
V186A |
possibly damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,165,454 (GRCm39) |
T88I |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,160,701 (GRCm39) |
V1250A |
probably benign |
Het |
| Tcte2 |
A |
T |
17: 13,937,824 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
A |
T |
3: 54,173,828 (GRCm39) |
L407F |
possibly damaging |
Het |
| Vmn1r6 |
T |
C |
6: 56,979,896 (GRCm39) |
F164S |
probably damaging |
Het |
| Zfp579 |
C |
A |
7: 4,997,743 (GRCm39) |
R56L |
probably benign |
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 |
|
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 |
|
IGL02647:Cenpj
|
APN |
14 |
56,767,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-11-18 |
Incidental Mutation