Incidental Mutation 'R6948:Cenpj'
| ID |
540984 |
| 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 # |
R6948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56790683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 455
(S455R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065302]
[ENSMUST00000225951]
|
| AlphaFold |
Q569L8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065302
AA Change: S455R
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: S455R
| 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 damaging
Transcript: ENSMUST00000225951
AA Change: S455R
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229861
|
| Meta Mutation Damage Score |
0.1214 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (36/37) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap2 |
A |
G |
2: 91,097,524 (GRCm39) |
T107A |
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,344 (GRCm39) |
M250L |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,447,327 (GRCm39) |
I276L |
probably benign |
Het |
| Cd70 |
T |
C |
17: 57,456,594 (GRCm39) |
E3G |
probably damaging |
Het |
| Cgn |
C |
G |
3: 94,680,531 (GRCm39) |
E590D |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,873,468 (GRCm39) |
I423F |
possibly damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,034,636 (GRCm39) |
M345L |
possibly damaging |
Het |
| Dner |
T |
C |
1: 84,383,738 (GRCm39) |
N549D |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,595 (GRCm39) |
L4517Q |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,692,597 (GRCm39) |
T523A |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,195,475 (GRCm39) |
|
probably benign |
Het |
| Gcfc2 |
A |
G |
6: 81,910,734 (GRCm39) |
E237G |
probably benign |
Het |
| Ipo5 |
G |
T |
14: 121,160,527 (GRCm39) |
M181I |
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,629,250 (GRCm39) |
Y506H |
probably benign |
Het |
| Mast3 |
G |
A |
8: 71,238,126 (GRCm39) |
T505I |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,464 (GRCm39) |
V118D |
possibly damaging |
Het |
| Mtor |
T |
G |
4: 148,621,209 (GRCm39) |
V1869G |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,522,703 (GRCm39) |
M720K |
possibly damaging |
Het |
| Npy4r |
A |
G |
14: 33,868,731 (GRCm39) |
Y186H |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,997,142 (GRCm39) |
S1520P |
probably damaging |
Het |
| Or10g1b |
A |
T |
14: 52,627,614 (GRCm39) |
F205L |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,655,994 (GRCm39) |
N274D |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,945,702 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,129,085 (GRCm39) |
D178G |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,177,033 (GRCm39) |
S1878P |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,374,737 (GRCm39) |
V1033A |
probably benign |
Het |
| Scaf1 |
G |
T |
7: 44,662,971 (GRCm39) |
S14* |
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,384,706 (GRCm39) |
S228G |
possibly damaging |
Het |
| Slc22a14 |
C |
A |
9: 119,060,482 (GRCm39) |
A93S |
probably damaging |
Het |
| Sox30 |
G |
A |
11: 45,908,166 (GRCm39) |
V778M |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,457,097 (GRCm39) |
I128V |
probably benign |
Het |
| Trip10 |
T |
A |
17: 57,569,448 (GRCm39) |
C491S |
probably damaging |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,718 (GRCm39) |
M157K |
probably damaging |
Het |
| Zbtb1 |
A |
T |
12: 76,432,601 (GRCm39) |
S196C |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,662,187 (GRCm39) |
D582G |
possibly damaging |
Het |
| Zfp384 |
A |
G |
6: 125,001,873 (GRCm39) |
T125A |
probably benign |
Het |
| Zpr1 |
T |
G |
9: 46,184,939 (GRCm39) |
|
probably null |
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 |
|
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'- TCCAGTGGAAAGAGGAAGTCTC -3'
(R):5'- TAAGCTAGCAAGTACGCAGAGC -3'
Sequencing Primer
(F):5'- GAGGAAGTCTCTCTCTCCCCTG -3'
(R):5'- GTACGCAGAGCCCATCAGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation