Incidental Mutation 'R5975:Cenpj'
| ID |
471717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpj
|
| Ensembl Gene |
ENSMUSG00000064128 |
| Gene Name |
centromere protein J |
| Synonyms |
4932437H03Rik, Sas4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5975 (G1)
|
| Quality Score |
85 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56801523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 150
(I150N)
|
| 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: I150N
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: I150N
| 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: I150N
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (80/82) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
T |
C |
7: 136,989,021 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,150 (GRCm39) |
|
probably null |
Het |
| Actn2 |
T |
C |
13: 12,355,378 (GRCm39) |
N2D |
probably benign |
Het |
| Adcy9 |
T |
C |
16: 4,129,431 (GRCm39) |
E722G |
probably damaging |
Het |
| Alox12 |
C |
A |
11: 70,133,609 (GRCm39) |
V572L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,616,488 (GRCm39) |
I2434V |
possibly damaging |
Het |
| Anks1 |
T |
A |
17: 28,210,421 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,023,370 (GRCm39) |
T2233I |
possibly damaging |
Het |
| Bpifa3 |
T |
A |
2: 153,978,241 (GRCm39) |
S148T |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,926,690 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,493,673 (GRCm39) |
L1655H |
probably damaging |
Het |
| Ccdc13 |
G |
T |
9: 121,656,301 (GRCm39) |
Q171K |
probably benign |
Het |
| Ccdc33 |
T |
A |
9: 58,024,761 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Cckbr |
G |
A |
7: 105,119,826 (GRCm39) |
G280E |
probably benign |
Het |
| Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,803,239 (GRCm39) |
|
probably null |
Het |
| Cep135 |
C |
A |
5: 76,788,737 (GRCm39) |
A1110E |
possibly damaging |
Het |
| Chit1 |
C |
A |
1: 134,074,364 (GRCm39) |
H224N |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,534,093 (GRCm39) |
R680G |
probably damaging |
Het |
| Dhx58 |
C |
A |
11: 100,593,035 (GRCm39) |
R224L |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
| Dnah5 |
A |
C |
15: 28,234,428 (GRCm39) |
D279A |
probably damaging |
Het |
| Dnai4 |
G |
A |
4: 102,906,786 (GRCm39) |
P676S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,578,375 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,650,740 (GRCm39) |
W799R |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,212,566 (GRCm39) |
T675A |
probably benign |
Het |
| Farsa |
T |
A |
8: 85,591,061 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
A |
T |
9: 109,384,320 (GRCm39) |
V397D |
probably damaging |
Het |
| Fcrl5 |
G |
A |
3: 87,349,410 (GRCm39) |
V62I |
probably benign |
Het |
| Gart |
A |
G |
16: 91,421,224 (GRCm39) |
S815P |
probably damaging |
Het |
| Glrx5 |
A |
G |
12: 105,006,582 (GRCm39) |
N111S |
possibly damaging |
Het |
| Gm10845 |
A |
G |
14: 80,100,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9925 |
T |
A |
18: 74,198,587 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
T |
C |
6: 50,204,339 (GRCm39) |
N206S |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,872,843 (GRCm39) |
S2459G |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,453,784 (GRCm39) |
S93P |
possibly damaging |
Het |
| Ints2 |
A |
T |
11: 86,117,574 (GRCm39) |
I716N |
possibly damaging |
Het |
| Lmnb2 |
G |
A |
10: 80,740,962 (GRCm39) |
Q248* |
probably null |
Het |
| Map3k7cl |
A |
G |
16: 87,367,209 (GRCm39) |
I32V |
probably benign |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,466 (GRCm39) |
I255N |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,187,965 (GRCm39) |
I1163T |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,165,540 (GRCm39) |
T636S |
possibly damaging |
Het |
| Ntsr1 |
T |
A |
2: 180,142,581 (GRCm39) |
L124Q |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,013,445 (GRCm39) |
|
probably null |
Het |
| P4ha2 |
G |
A |
11: 54,017,238 (GRCm39) |
|
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,132,164 (GRCm39) |
V411D |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,389,384 (GRCm39) |
I1380F |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,493,983 (GRCm39) |
V106A |
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,267,517 (GRCm39) |
V818E |
possibly damaging |
Het |
| Pprc1 |
T |
G |
19: 46,053,809 (GRCm39) |
|
probably benign |
Het |
| Prb1c |
A |
G |
6: 132,339,036 (GRCm39) |
S61P |
unknown |
Het |
| Prmt9 |
T |
C |
8: 78,287,647 (GRCm39) |
|
probably benign |
Het |
| Rab26 |
T |
C |
17: 24,749,373 (GRCm39) |
N193D |
possibly damaging |
Het |
| Rnf111 |
A |
G |
9: 70,336,862 (GRCm39) |
S942P |
probably damaging |
Het |
| Scgb2b18 |
T |
C |
7: 32,872,650 (GRCm39) |
T52A |
probably damaging |
Het |
| Syt3 |
C |
T |
7: 44,042,187 (GRCm39) |
Q349* |
probably null |
Het |
| Tas2r107 |
T |
C |
6: 131,636,743 (GRCm39) |
N102S |
probably benign |
Het |
| Tas2r126 |
T |
A |
6: 42,411,934 (GRCm39) |
Y156N |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,619,712 (GRCm39) |
I105N |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,715,552 (GRCm39) |
M81R |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,036,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Trerf1 |
A |
T |
17: 47,625,197 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,591,579 (GRCm39) |
T12703I |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,091,885 (GRCm39) |
K1735E |
possibly damaging |
Het |
| Usp54 |
G |
A |
14: 20,633,419 (GRCm39) |
T372I |
possibly damaging |
Het |
| Wdr24 |
T |
C |
17: 26,046,102 (GRCm39) |
S476P |
probably benign |
Het |
| Zbtb1 |
T |
C |
12: 76,433,049 (GRCm39) |
I345T |
possibly damaging |
Het |
| Zcrb1 |
T |
A |
15: 93,293,496 (GRCm39) |
I29L |
probably benign |
Het |
| Zfp341 |
T |
A |
2: 154,472,361 (GRCm39) |
C315S |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,820,012 (GRCm39) |
R323S |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,485,885 (GRCm39) |
Y187N |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTAGAACTGTTCTGCCAAGC -3'
(R):5'- GTGTTTAACTGGCAAGCTGG -3'
Sequencing Primer
(F):5'- CTGTTCTGCCAAGCACTTAAGAAG -3'
(R):5'- TGTTTAACTGGCAAGCTGGTAGAAAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation