Incidental Mutation 'R7634:Cenpj'
| ID |
589830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpj
|
| Ensembl Gene |
ENSMUSG00000064128 |
| Gene Name |
centromere protein J |
| Synonyms |
4932437H03Rik, Sas4 |
| MMRRC Submission |
045693-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56780257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 985
(T985A)
|
| 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: T985A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: T985A
| 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: T985A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,969,102 (GRCm39) |
M116L |
probably benign |
Het |
| Adam25 |
A |
G |
8: 41,207,883 (GRCm39) |
D383G |
probably benign |
Het |
| Adam26b |
T |
A |
8: 43,974,034 (GRCm39) |
M323L |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,407,245 (GRCm39) |
H227R |
probably benign |
Het |
| Antxr1 |
G |
A |
6: 87,114,273 (GRCm39) |
T498I |
probably benign |
Het |
| Arg1 |
T |
A |
10: 24,791,627 (GRCm39) |
T285S |
possibly damaging |
Het |
| Arhgdig |
T |
C |
17: 26,418,365 (GRCm39) |
D206G |
probably damaging |
Het |
| Asb10 |
C |
A |
5: 24,745,875 (GRCm39) |
C17F |
possibly damaging |
Het |
| Atg2b |
T |
C |
12: 105,618,379 (GRCm39) |
D891G |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,611,083 (GRCm39) |
S572T |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,941,593 (GRCm39) |
N1780K |
probably damaging |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,447 (GRCm39) |
Y417H |
probably damaging |
Het |
| Dnajb13 |
G |
T |
7: 100,152,393 (GRCm39) |
Q308K |
probably benign |
Het |
| Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gm3127 |
A |
G |
14: 15,425,787 (GRCm39) |
N64S |
probably damaging |
Het |
| Gm4847 |
A |
C |
1: 166,460,249 (GRCm39) |
N412K |
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,458,800 (GRCm39) |
|
probably null |
Het |
| Guf1 |
T |
C |
5: 69,721,887 (GRCm39) |
S349P |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,371,586 (GRCm39) |
Y42C |
probably damaging |
Het |
| Insm1 |
A |
G |
2: 146,065,027 (GRCm39) |
Y281C |
probably damaging |
Het |
| Lrrc71 |
A |
G |
3: 87,650,281 (GRCm39) |
I264T |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,036,462 (GRCm39) |
N897S |
probably damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,533,596 (GRCm39) |
F375I |
probably damaging |
Het |
| Mtor |
G |
C |
4: 148,536,807 (GRCm39) |
S27T |
possibly damaging |
Het |
| Mylk4 |
T |
A |
13: 32,892,891 (GRCm39) |
K387N |
possibly damaging |
Het |
| Nadk2 |
T |
G |
15: 9,092,935 (GRCm39) |
D247E |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,990,354 (GRCm39) |
V1067A |
probably benign |
Het |
| Nrbp2 |
C |
T |
15: 75,959,257 (GRCm39) |
R206Q |
possibly damaging |
Het |
| Oas2 |
A |
G |
5: 120,871,293 (GRCm39) |
V722A |
probably benign |
Het |
| Odad4 |
G |
A |
11: 100,452,731 (GRCm39) |
|
probably null |
Het |
| Or4c108 |
G |
T |
2: 88,804,001 (GRCm39) |
P78Q |
probably damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,428,000 (GRCm39) |
|
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,852,317 (GRCm39) |
H561Q |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,961,853 (GRCm39) |
F233L |
probably damaging |
Het |
| Ppp1r3d |
A |
G |
2: 178,055,165 (GRCm39) |
I279T |
probably damaging |
Het |
| Psg17 |
A |
G |
7: 18,548,416 (GRCm39) |
Y452H |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,140,428 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
G |
5: 24,010,477 (GRCm39) |
T229A |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,839,866 (GRCm39) |
|
probably null |
Het |
| Slc22a26 |
A |
C |
19: 7,779,952 (GRCm39) |
|
probably null |
Het |
| Slc22a7 |
C |
T |
17: 46,749,156 (GRCm39) |
A54T |
probably benign |
Het |
| Slc52a3 |
C |
A |
2: 151,846,534 (GRCm39) |
T165N |
possibly damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,378,486 (GRCm39) |
|
probably null |
Het |
| Smap2 |
T |
C |
4: 120,873,996 (GRCm39) |
N18S |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,278 (GRCm39) |
E369G |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,760 (GRCm39) |
Y445N |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
C |
T |
16: 45,483,637 (GRCm39) |
G579D |
probably benign |
Het |
| Tpi1 |
T |
A |
6: 124,789,817 (GRCm39) |
K109* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,628,856 (GRCm39) |
E14466G |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,890,152 (GRCm39) |
C903* |
probably null |
Het |
| Vinac1 |
T |
A |
2: 128,880,192 (GRCm39) |
D578V |
|
Het |
| Vmn2r104 |
T |
A |
17: 20,261,971 (GRCm39) |
L386F |
possibly damaging |
Het |
| Vmn2r54 |
G |
A |
7: 12,349,630 (GRCm39) |
P651S |
probably damaging |
Het |
| Wnk4 |
C |
A |
11: 101,153,721 (GRCm39) |
T261K |
probably damaging |
Het |
| Wnt2b |
T |
C |
3: 104,854,432 (GRCm39) |
Y342C |
probably damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,326,755 (GRCm39) |
Y137H |
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 |
|
|
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'- TCAGAGTCACACTGTGATACG -3'
(R):5'- AGGTCATTATACTAAGACTGTCCC -3'
Sequencing Primer
(F):5'- TCTTGAGACAGGGTTTCACC -3'
(R):5'- GTCCCATGACATGTTTATCATAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation