Incidental Mutation 'R5944:Cenpj'
ID |
460494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cenpj
|
Ensembl Gene |
ENSMUSG00000064128 |
Gene Name |
centromere protein J |
Synonyms |
4932437H03Rik, Sas4 |
MMRRC Submission |
044136-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5944 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 56791115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065302]
[ENSMUST00000225951]
|
AlphaFold |
Q569L8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000065302
|
SMART Domains |
Protein: ENSMUSP00000065949 Gene: ENSMUSG00000064128
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 null
Transcript: ENSMUST00000225951
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229861
|
Meta Mutation Damage Score |
0.9584 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
86% (51/59) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
T |
5: 114,384,041 (GRCm39) |
R2190L |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,433,702 (GRCm39) |
R689H |
probably damaging |
Het |
Apol7b |
A |
T |
15: 77,307,967 (GRCm39) |
V176E |
probably damaging |
Het |
Arsg |
T |
C |
11: 109,426,137 (GRCm39) |
F319S |
probably damaging |
Het |
Bcar3 |
T |
A |
3: 122,316,932 (GRCm39) |
D634E |
probably benign |
Het |
Bend7 |
T |
C |
2: 4,749,167 (GRCm39) |
W95R |
probably damaging |
Het |
Cfap91 |
G |
T |
16: 38,148,672 (GRCm39) |
T252N |
probably damaging |
Het |
Clasrp |
A |
T |
7: 19,328,431 (GRCm39) |
Y116N |
probably damaging |
Het |
Cldn17 |
T |
C |
16: 88,303,597 (GRCm39) |
E44G |
probably damaging |
Het |
Cyfip1 |
G |
A |
7: 55,521,878 (GRCm39) |
E61K |
probably damaging |
Het |
Dcaf13 |
A |
C |
15: 39,010,072 (GRCm39) |
M419L |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,753,472 (GRCm39) |
D269G |
possibly damaging |
Het |
Fap |
T |
C |
2: 62,372,605 (GRCm39) |
Y258C |
probably damaging |
Het |
Fdxr |
T |
A |
11: 115,160,672 (GRCm39) |
T288S |
probably benign |
Het |
Frs3 |
T |
C |
17: 48,003,233 (GRCm39) |
|
probably benign |
Het |
Gm5581 |
T |
A |
6: 131,145,363 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
A |
G |
7: 83,405,743 (GRCm39) |
D187G |
probably benign |
Het |
Gpc5 |
T |
C |
14: 115,607,250 (GRCm39) |
V284A |
probably benign |
Het |
Hspa9 |
T |
C |
18: 35,082,076 (GRCm39) |
T177A |
possibly damaging |
Het |
Ifi202b |
T |
A |
1: 173,791,365 (GRCm39) |
M438L |
probably benign |
Het |
Ighv1-3 |
T |
C |
12: 114,445,239 (GRCm39) |
|
probably benign |
Het |
Krt36 |
G |
T |
11: 99,996,139 (GRCm39) |
A95E |
probably benign |
Het |
Krt9 |
C |
T |
11: 100,079,265 (GRCm39) |
S709N |
unknown |
Het |
Lmntd1 |
A |
T |
6: 145,373,042 (GRCm39) |
S164T |
probably damaging |
Het |
Or14c41 |
T |
A |
7: 86,234,486 (GRCm39) |
M1K |
probably null |
Het |
Or2ag1b |
A |
T |
7: 106,288,853 (GRCm39) |
C28* |
probably null |
Het |
Or52n4b |
G |
A |
7: 108,144,484 (GRCm39) |
A249T |
possibly damaging |
Het |
Or5b94 |
C |
T |
19: 12,652,283 (GRCm39) |
T238I |
probably damaging |
Het |
Or7a41 |
A |
T |
10: 78,871,223 (GRCm39) |
M198L |
probably benign |
Het |
Papola |
T |
A |
12: 105,778,644 (GRCm39) |
F341I |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,859,785 (GRCm39) |
L914P |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,087,230 (GRCm39) |
V132A |
probably benign |
Het |
Serpini1 |
G |
A |
3: 75,547,606 (GRCm39) |
D373N |
probably damaging |
Het |
Sigirr |
T |
C |
7: 140,671,300 (GRCm39) |
Y394C |
probably damaging |
Het |
Slc29a4 |
G |
A |
5: 142,704,573 (GRCm39) |
E372K |
probably damaging |
Het |
Slc7a4 |
C |
T |
16: 17,392,220 (GRCm39) |
V405I |
possibly damaging |
Het |
Spatc1 |
T |
C |
15: 76,168,138 (GRCm39) |
L199P |
probably damaging |
Het |
Srgap3 |
T |
C |
6: 112,772,775 (GRCm39) |
M149V |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stat3 |
C |
T |
11: 100,785,931 (GRCm39) |
A449T |
probably damaging |
Het |
Stat4 |
A |
G |
1: 52,113,898 (GRCm39) |
N203D |
probably damaging |
Het |
Tanc1 |
T |
C |
2: 59,667,564 (GRCm39) |
|
probably null |
Het |
Trav3-1 |
T |
C |
14: 52,818,449 (GRCm39) |
I41T |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,313,089 (GRCm39) |
D525E |
probably damaging |
Het |
Vars1 |
T |
C |
17: 35,232,620 (GRCm39) |
V848A |
probably damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,809,769 (GRCm39) |
D185V |
probably benign |
Het |
Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAACCTAGCTAAACCTTCTCCTCG -3'
(R):5'- TGGTCCTGGAGAATGCTAGC -3'
Sequencing Primer
(F):5'- CTCCTCGTTTTAAAAATGGTTGC -3'
(R):5'- CAGGCTGAGGTATTGACTATTACACG -3'
|
Posted On |
2017-02-28 |