Incidental Mutation 'R8916:Cenpj'
| ID |
678959 |
| 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 # |
R8916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56790352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 566
(F566I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065302]
[ENSMUST00000225951]
|
| AlphaFold |
Q569L8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065302
AA Change: F566I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: F566I
| 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: F566I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229861
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
G |
13: 70,941,307 (GRCm39) |
L360S |
probably damaging |
Het |
| AW554918 |
T |
C |
18: 25,423,049 (GRCm39) |
Y167H |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,410,813 (GRCm39) |
I433F |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,652,915 (GRCm39) |
Y795N |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,501,667 (GRCm39) |
G362E |
unknown |
Het |
| Crebrf |
A |
G |
17: 26,958,583 (GRCm39) |
T18A |
probably damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,056,254 (GRCm39) |
V529I |
probably benign |
Het |
| Dars2 |
T |
C |
1: 160,881,552 (GRCm39) |
T326A |
probably benign |
Het |
| Eif4e |
T |
C |
3: 138,256,043 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,733,722 (GRCm39) |
M413V |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,245,149 (GRCm39) |
D246G |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,837,514 (GRCm39) |
S241P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,900,774 (GRCm39) |
F2998L |
probably damaging |
Het |
| Garin4 |
A |
G |
1: 190,895,857 (GRCm39) |
I262T |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,901,599 (GRCm39) |
T192A |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
T |
9: 44,209,673 (GRCm39) |
F234I |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,649,530 (GRCm39) |
I652N |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,963 (GRCm39) |
K771E |
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,061,170 (GRCm39) |
|
probably null |
Het |
| Lnpk |
A |
T |
2: 74,358,486 (GRCm39) |
S358T |
probably benign |
Het |
| Lpcat2 |
A |
T |
8: 93,596,316 (GRCm39) |
M118L |
probably benign |
Het |
| Lypd1 |
T |
A |
1: 125,801,120 (GRCm39) |
T127S |
unknown |
Het |
| Mettl23 |
C |
T |
11: 116,740,111 (GRCm39) |
T194I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,788,819 (GRCm39) |
V2227A |
possibly damaging |
Het |
| Mus81 |
A |
T |
19: 5,534,214 (GRCm39) |
V368E |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,457,704 (GRCm39) |
F1046I |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,888,667 (GRCm39) |
V222I |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,811,106 (GRCm39) |
M372K |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,991,101 (GRCm39) |
E586G |
probably benign |
Het |
| Nr2e1 |
G |
A |
10: 42,443,864 (GRCm39) |
A286V |
possibly damaging |
Het |
| Nup153 |
G |
A |
13: 46,863,462 (GRCm39) |
Q300* |
probably null |
Het |
| Plaat1 |
A |
G |
16: 29,039,259 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pnp2 |
T |
C |
14: 51,201,234 (GRCm39) |
L202P |
probably damaging |
Het |
| Prss3b |
T |
A |
6: 41,010,103 (GRCm39) |
H77L |
probably damaging |
Het |
| Psen2 |
A |
G |
1: 180,063,495 (GRCm39) |
F183L |
probably benign |
Het |
| Rint1 |
G |
T |
5: 23,992,826 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCGGCGGCCGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,608,635 (GRCm39) |
R2335L |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,108,127 (GRCm39) |
D1544G |
probably damaging |
Het |
| Sec31b |
A |
C |
19: 44,520,783 (GRCm39) |
S175A |
|
Het |
| Sgcg |
A |
G |
14: 61,474,341 (GRCm39) |
S101P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,489,154 (GRCm39) |
S241T |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,193,118 (GRCm39) |
L545Q |
probably damaging |
Het |
| Spata31g1 |
C |
A |
4: 42,973,034 (GRCm39) |
P789H |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,725,266 (GRCm39) |
E164* |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,255,108 (GRCm39) |
N880K |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,899,931 (GRCm39) |
V894A |
probably benign |
Het |
| Tgfa |
T |
G |
6: 86,248,436 (GRCm39) |
L146R |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
| Tlr4 |
G |
A |
4: 66,847,268 (GRCm39) |
V132I |
probably benign |
Het |
| Tsen34 |
C |
T |
7: 3,697,340 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
T |
G |
8: 125,409,976 (GRCm39) |
K412T |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,139 (GRCm39) |
Y203C |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,665 (GRCm39) |
T340S |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,648,593 (GRCm39) |
C46S |
|
Het |
| Ythdf2 |
A |
T |
4: 131,931,830 (GRCm39) |
D443E |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,796 (GRCm39) |
R754G |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,664,351 (GRCm39) |
E478V |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,136 (GRCm39) |
Y590* |
probably null |
Het |
| Zfp9 |
A |
T |
6: 118,442,223 (GRCm39) |
C146* |
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 |
|
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 |
|
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'- TGCAGTTACTCTGACCCCTAG -3'
(R):5'- TGCATGCATAAAGCCCTGGG -3'
Sequencing Primer
(F):5'- AGTTACTCTGACCCCTAGGATCTG -3'
(R):5'- CATAAAGCCCTGGGATGCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation