Incidental Mutation 'R1671:Cenpj'
| ID |
187638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpj
|
| Ensembl Gene |
ENSMUSG00000064128 |
| Gene Name |
centromere protein J |
| Synonyms |
4932437H03Rik, Sas4 |
| MMRRC Submission |
039707-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1671 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56764218-56812882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 56802502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 21
(M21R)
|
| 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: M21R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: M21R
| 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: M21R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.5554 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (70/70) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
C |
14: 64,210,637 (GRCm39) |
L197R |
probably benign |
Het |
| Arglu1 |
A |
G |
8: 8,733,896 (GRCm39) |
V140A |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,542 (GRCm39) |
E1461G |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,860,573 (GRCm39) |
D611V |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,341 (GRCm39) |
|
probably null |
Het |
| Cltc |
A |
T |
11: 86,623,421 (GRCm39) |
H201Q |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 8,083,773 (GRCm39) |
N561K |
possibly damaging |
Het |
| Cyp2c70 |
G |
A |
19: 40,142,081 (GRCm39) |
P470L |
probably damaging |
Het |
| Cyp4f14 |
G |
A |
17: 33,135,883 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
A |
T |
9: 6,266,225 (GRCm39) |
V48D |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,818,789 (GRCm39) |
V3183A |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,472,054 (GRCm39) |
|
probably benign |
Het |
| Fap |
T |
A |
2: 62,384,179 (GRCm39) |
Y9F |
possibly damaging |
Het |
| Fbxo15 |
T |
A |
18: 84,977,231 (GRCm39) |
S93T |
possibly damaging |
Het |
| Gal3st2 |
C |
T |
1: 93,801,400 (GRCm39) |
R19C |
probably damaging |
Het |
| Gmnn |
A |
T |
13: 24,936,054 (GRCm39) |
*207R |
probably null |
Het |
| Gucy1a1 |
A |
C |
3: 82,013,529 (GRCm39) |
I371S |
probably damaging |
Het |
| H1f11-ps |
C |
A |
19: 47,159,294 (GRCm39) |
V94L |
possibly damaging |
Het |
| Igsf10 |
G |
T |
3: 59,235,921 (GRCm39) |
S1420* |
probably null |
Het |
| Itih5 |
G |
T |
2: 10,191,782 (GRCm39) |
V106L |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,609,038 (GRCm39) |
I201K |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lars2 |
C |
T |
9: 123,247,344 (GRCm39) |
T283I |
probably benign |
Het |
| Loxhd1 |
T |
C |
18: 77,492,498 (GRCm39) |
I1313T |
probably damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,458,235 (GRCm39) |
R368* |
probably null |
Het |
| Mdga1 |
A |
T |
17: 30,069,603 (GRCm39) |
Y422N |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,003,126 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
C |
A |
11: 71,092,085 (GRCm39) |
V14L |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,838 (GRCm39) |
D1157G |
probably damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,523,780 (GRCm39) |
R598S |
probably damaging |
Het |
| Or2av9 |
A |
T |
11: 58,381,435 (GRCm39) |
W49R |
possibly damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,290 (GRCm39) |
K269E |
probably damaging |
Het |
| Or52ae9 |
C |
A |
7: 103,389,617 (GRCm39) |
A277S |
possibly damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,428 (GRCm39) |
M144V |
probably benign |
Het |
| Otog |
A |
T |
7: 45,911,210 (GRCm39) |
D687V |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,432,232 (GRCm39) |
C1461Y |
probably damaging |
Het |
| Raet1d |
A |
G |
10: 22,238,614 (GRCm39) |
M1V |
probably null |
Het |
| Rnf6 |
A |
T |
5: 146,147,998 (GRCm39) |
L340* |
probably null |
Het |
| Rsl1d1 |
T |
C |
16: 11,019,245 (GRCm39) |
T99A |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,130 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
A |
G |
12: 82,444,235 (GRCm39) |
Y982C |
probably damaging |
Het |
| Sorbs3 |
G |
T |
14: 70,428,915 (GRCm39) |
R417S |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,885,296 (GRCm39) |
C2102R |
probably damaging |
Het |
| Sp140l2 |
C |
T |
1: 85,235,106 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
T |
A |
11: 30,092,245 (GRCm39) |
I494F |
possibly damaging |
Het |
| Tank |
T |
A |
2: 61,480,097 (GRCm39) |
V211E |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,488,120 (GRCm39) |
D840E |
probably benign |
Het |
| Tg |
T |
A |
15: 66,564,236 (GRCm39) |
C1146S |
possibly damaging |
Het |
| Tiam2 |
A |
T |
17: 3,557,109 (GRCm39) |
E110V |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,431,103 (GRCm39) |
W560R |
probably damaging |
Het |
| Triml2 |
G |
A |
8: 43,636,780 (GRCm39) |
R76H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,541,964 (GRCm39) |
E25347G |
probably damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,586,889 (GRCm38) |
L124P |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,103,265 (GRCm39) |
K153E |
probably benign |
Het |
| Wnt16 |
A |
T |
6: 22,298,178 (GRCm39) |
Y348F |
probably damaging |
Het |
| Xpo6 |
A |
G |
7: 125,707,715 (GRCm39) |
V897A |
possibly damaging |
Het |
| Zbtb26 |
T |
C |
2: 37,326,377 (GRCm39) |
T220A |
probably benign |
Het |
| Zik1 |
A |
T |
7: 10,224,675 (GRCm39) |
S141T |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,580,305 (GRCm39) |
Y128H |
possibly 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 |
|
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 |
|
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'- TTGGCTCCTTTCTAACTGAAGGAAAGAC -3'
(R):5'- CTTGGGCTACTTTTGGGTAAAGCATGTA -3'
Sequencing Primer
(F):5'- ATGGTTTATAAGGTCCTCCAGC -3'
(R):5'- TTTCCAGGGCTTAAATCGGG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation