Incidental Mutation 'R9686:Cenpj'
ID |
728864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cenpj
|
Ensembl Gene |
ENSMUSG00000064128 |
Gene Name |
centromere protein J |
Synonyms |
4932437H03Rik, Sas4 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9686 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56790048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 667
(A667V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065302]
[ENSMUST00000225951]
|
AlphaFold |
Q569L8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065302
AA Change: A667V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000065949 Gene: ENSMUSG00000064128 AA Change: A667V
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 benign
Transcript: ENSMUST00000225951
AA Change: A667V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229861
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,247,867 (GRCm39) |
F1209L |
probably benign |
Het |
Adamts19 |
A |
G |
18: 58,971,093 (GRCm39) |
T226A |
probably benign |
Het |
Akap13 |
A |
G |
7: 75,236,084 (GRCm39) |
T220A |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,740,550 (GRCm39) |
E1778V |
unknown |
Het |
Aspn |
T |
C |
13: 49,710,829 (GRCm39) |
I158T |
probably damaging |
Het |
Btbd1 |
A |
G |
7: 81,455,598 (GRCm39) |
C258R |
probably damaging |
Het |
Btla |
A |
G |
16: 45,070,872 (GRCm39) |
N278S |
probably damaging |
Het |
Cap2 |
A |
G |
13: 46,678,926 (GRCm39) |
E12G |
probably damaging |
Het |
Ccdc171 |
A |
G |
4: 83,467,919 (GRCm39) |
Y88C |
probably damaging |
Het |
Ceacam3 |
C |
T |
7: 16,892,123 (GRCm39) |
L289F |
|
Het |
Clu |
G |
T |
14: 66,212,454 (GRCm39) |
G136C |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,474,962 (GRCm39) |
F626I |
unknown |
Het |
Csf2ra |
A |
G |
19: 61,213,629 (GRCm39) |
F360S |
probably damaging |
Het |
Cyp27b1 |
T |
A |
10: 126,886,185 (GRCm39) |
S289T |
probably benign |
Het |
Dnah17 |
G |
T |
11: 117,979,048 (GRCm39) |
H1781Q |
possibly damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Fap |
T |
C |
2: 62,403,857 (GRCm39) |
K6R |
possibly damaging |
Het |
Fcer1a |
A |
G |
1: 173,052,980 (GRCm39) |
V72A |
possibly damaging |
Het |
Flnc |
T |
C |
6: 29,456,434 (GRCm39) |
S2211P |
possibly damaging |
Het |
Gm20939 |
A |
T |
17: 95,184,888 (GRCm39) |
H512L |
probably damaging |
Het |
Gng12 |
T |
C |
6: 66,994,529 (GRCm39) |
S59P |
probably damaging |
Het |
Grin1 |
A |
C |
2: 25,203,522 (GRCm39) |
I163S |
probably benign |
Het |
Haus5 |
A |
G |
7: 30,361,398 (GRCm39) |
I74T |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,613,356 (GRCm39) |
P1357L |
probably damaging |
Het |
Kcnv1 |
A |
G |
15: 44,972,500 (GRCm39) |
I461T |
probably benign |
Het |
Kmo |
A |
G |
1: 175,459,786 (GRCm39) |
M1V |
probably null |
Het |
Krt80 |
G |
A |
15: 101,262,281 (GRCm39) |
R107C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,377,491 (GRCm39) |
V1481A |
possibly damaging |
Het |
Masp1 |
A |
G |
16: 23,314,887 (GRCm39) |
S125P |
probably damaging |
Het |
Mroh2b |
C |
T |
15: 4,974,605 (GRCm39) |
P1195L |
probably benign |
Het |
Neurl3 |
A |
T |
1: 36,305,539 (GRCm39) |
W223R |
probably benign |
Het |
Or10h28 |
A |
G |
17: 33,487,853 (GRCm39) |
T52A |
probably benign |
Het |
Or5g27 |
T |
A |
2: 85,410,340 (GRCm39) |
Y252* |
probably null |
Het |
Or5k1b |
T |
C |
16: 58,581,126 (GRCm39) |
K138E |
possibly damaging |
Het |
Or5m9 |
A |
T |
2: 85,877,335 (GRCm39) |
I170F |
probably benign |
Het |
Pcdhb4 |
A |
C |
18: 37,442,943 (GRCm39) |
Y751S |
probably damaging |
Het |
Pcnx2 |
C |
A |
8: 126,592,766 (GRCm39) |
A733S |
probably benign |
Het |
Pde4a |
A |
G |
9: 21,117,562 (GRCm39) |
E608G |
probably benign |
Het |
Pfdn2 |
G |
A |
1: 171,185,377 (GRCm39) |
E98K |
unknown |
Het |
Pikfyve |
T |
A |
1: 65,291,615 (GRCm39) |
V1278D |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,204,694 (GRCm39) |
T1843S |
probably damaging |
Het |
Rab12 |
G |
T |
17: 66,826,513 (GRCm39) |
A66E |
probably benign |
Het |
Ralyl |
T |
C |
3: 13,841,887 (GRCm39) |
|
probably benign |
Het |
Rbm47 |
A |
T |
5: 66,179,969 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,743,384 (GRCm39) |
D3038E |
possibly damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,034,005 (GRCm39) |
F407L |
probably benign |
Het |
S100pbp |
A |
T |
4: 129,049,271 (GRCm39) |
D332E |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,400,577 (GRCm39) |
V729A |
possibly damaging |
Het |
Slfn5 |
A |
T |
11: 82,848,001 (GRCm39) |
E295D |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,316,775 (GRCm39) |
S518G |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,381,954 (GRCm39) |
D29G |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,989,108 (GRCm39) |
E925K |
probably damaging |
Het |
Spen |
A |
G |
4: 141,199,946 (GRCm39) |
S2894P |
probably benign |
Het |
Taar7a |
G |
A |
10: 23,869,309 (GRCm39) |
T24I |
probably benign |
Het |
Taf4b |
C |
A |
18: 14,932,215 (GRCm39) |
T189N |
possibly damaging |
Het |
Tle7 |
T |
A |
8: 110,836,563 (GRCm39) |
W180R |
probably damaging |
Het |
Ube2o |
A |
T |
11: 116,434,779 (GRCm39) |
C561S |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,424,351 (GRCm39) |
I3213N |
|
Het |
Vmn1r103 |
A |
G |
7: 20,244,353 (GRCm39) |
V36A |
possibly damaging |
Het |
Vmn2r65 |
G |
A |
7: 84,590,084 (GRCm39) |
L611F |
probably benign |
Het |
Zfp51 |
C |
T |
17: 21,683,871 (GRCm39) |
S162F |
probably damaging |
Het |
Zfp518b |
G |
A |
5: 38,831,457 (GRCm39) |
H183Y |
probably damaging |
Het |
Zfp622 |
A |
G |
15: 25,985,141 (GRCm39) |
E169G |
probably benign |
Het |
Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
probably damaging |
Het |
Zfp839 |
A |
T |
12: 110,821,932 (GRCm39) |
I249F |
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 |
|
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 |
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'- CTAATAGGTCCTTTGGCATCACAG -3'
(R):5'- GGTCACAGGCTGTCTTCTAC -3'
Sequencing Primer
(F):5'- ATAGGTCCTTTGGCATCACAGACTTG -3'
(R):5'- TACTCCTGTCAAAGCTGTACAG -3'
|
Posted On |
2022-10-06 |