Incidental Mutation 'IGL02683:Cenpj'
| ID |
303447 |
| 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 # |
IGL02683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56790409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 547
(K547E)
|
| 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: K547E
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: K547E
| 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: K547E
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
| Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
| Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
| Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
| Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
| E2f7 |
T |
C |
10: 110,618,320 (GRCm39) |
M795T |
probably benign |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,705,261 (GRCm39) |
V151M |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 35,937,762 (GRCm39) |
T448A |
probably benign |
Het |
| Kcnj5 |
T |
C |
9: 32,229,076 (GRCm39) |
T41A |
possibly damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
| Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
| Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
| Nudt5 |
C |
A |
2: 5,868,412 (GRCm39) |
S103R |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
| Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
| Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
| Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,374,969 (GRCm39) |
V1227A |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,951 (GRCm39) |
W536R |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
| Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
| Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
| Vezf1 |
A |
T |
11: 87,967,153 (GRCm39) |
Q310L |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
| Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
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 |
|
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 |
|
IGL02647:Cenpj
|
APN |
14 |
56,767,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
Incidental Mutation