Incidental Mutation 'IGL01906:Cep120'
| ID |
179682 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep120
|
| Ensembl Gene |
ENSMUSG00000048799 |
| Gene Name |
centrosomal protein 120 |
| Synonyms |
Ccdc100 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
IGL01906
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53847984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 625
(V625E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
| AlphaFold |
Q7TSG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049811
AA Change: V625E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: V625E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:C2
|
9 |
114 |
4.8e-5 |
PFAM |
|
Pfam:DUF3668
|
118 |
340 |
1e-96 |
PFAM |
|
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
|
Pfam:C2
|
520 |
568 |
1.9e-3 |
PFAM |
|
low complexity region
|
632 |
642 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
661 |
803 |
2e-4 |
SMART |
|
| Coding Region Coverage |
|
| 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 functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles. [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 |
|---|
| Abca13 |
A |
T |
11: 9,166,225 (GRCm39) |
Q24L |
probably damaging |
Het |
| Adam1b |
A |
T |
5: 121,639,538 (GRCm39) |
N502K |
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,507,951 (GRCm39) |
M108K |
probably benign |
Het |
| Akr1b10 |
A |
G |
6: 34,364,746 (GRCm39) |
K69R |
probably benign |
Het |
| Ap5b1 |
T |
A |
19: 5,621,007 (GRCm39) |
L809* |
probably null |
Het |
| Asxl3 |
A |
T |
18: 22,655,338 (GRCm39) |
H1116L |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,945,353 (GRCm39) |
T2794A |
probably damaging |
Het |
| Bst1 |
T |
C |
5: 43,994,861 (GRCm39) |
F248L |
probably damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,631,849 (GRCm39) |
M501V |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,356,510 (GRCm39) |
D661V |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,462,383 (GRCm39) |
E456V |
probably benign |
Het |
| Csk |
A |
G |
9: 57,536,304 (GRCm39) |
I201T |
probably damaging |
Het |
| Cttnbp2 |
G |
T |
6: 18,378,375 (GRCm39) |
S977* |
probably null |
Het |
| Ddr2 |
A |
G |
1: 169,809,668 (GRCm39) |
W770R |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,214,613 (GRCm39) |
I1126T |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,359,456 (GRCm39) |
E342V |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,863,263 (GRCm39) |
L496Q |
probably damaging |
Het |
| Faim2 |
G |
A |
15: 99,412,314 (GRCm39) |
T140I |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Haus3 |
A |
C |
5: 34,325,667 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,543,638 (GRCm39) |
T2846A |
probably benign |
Het |
| Mto1 |
T |
C |
9: 78,372,213 (GRCm39) |
V561A |
probably benign |
Het |
| Myb |
T |
C |
10: 21,028,533 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,246 (GRCm39) |
C141R |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,967,682 (GRCm39) |
Y420C |
probably damaging |
Het |
| Plk4 |
G |
T |
3: 40,764,816 (GRCm39) |
M603I |
probably null |
Het |
| Scgb1b24 |
T |
C |
7: 33,443,538 (GRCm39) |
C66R |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,053,830 (GRCm39) |
Y56C |
probably damaging |
Het |
| Setd1b |
C |
A |
5: 123,295,730 (GRCm39) |
D1099E |
unknown |
Het |
| Sh2d7 |
G |
A |
9: 54,446,750 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,188,593 (GRCm39) |
K221* |
probably null |
Het |
| Slc5a1 |
T |
C |
5: 33,311,997 (GRCm39) |
L463P |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,208,115 (GRCm39) |
T419A |
probably benign |
Het |
| Styxl2 |
A |
C |
1: 165,927,092 (GRCm39) |
L840R |
probably damaging |
Het |
| Ttc39a |
T |
C |
4: 109,278,591 (GRCm39) |
M82T |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13b |
T |
C |
15: 35,639,993 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cep120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01544:Cep120
|
APN |
18 |
53,819,033 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01774:Cep120
|
APN |
18 |
53,839,902 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01862:Cep120
|
APN |
18 |
53,847,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01941:Cep120
|
APN |
18 |
53,856,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02952:Cep120
|
APN |
18 |
53,816,300 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03248:Cep120
|
APN |
18 |
53,868,844 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03379:Cep120
|
APN |
18 |
53,842,208 (GRCm39) |
missense |
probably benign |
|
|
R0019:Cep120
|
UTSW |
18 |
53,842,119 (GRCm39) |
splice site |
probably benign |
|
|
R0039:Cep120
|
UTSW |
18 |
53,819,033 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0763:Cep120
|
UTSW |
18 |
53,854,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1015:Cep120
|
UTSW |
18 |
53,836,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1340:Cep120
|
UTSW |
18 |
53,857,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1507:Cep120
|
UTSW |
18 |
53,830,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1649:Cep120
|
UTSW |
18 |
53,857,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Cep120
|
UTSW |
18 |
53,860,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1739:Cep120
|
UTSW |
18 |
53,852,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1873:Cep120
|
UTSW |
18 |
53,871,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1913:Cep120
|
UTSW |
18 |
53,856,358 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1968:Cep120
|
UTSW |
18 |
53,856,313 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1995:Cep120
|
UTSW |
18 |
53,873,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Cep120
|
UTSW |
18 |
53,868,814 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2074:Cep120
|
UTSW |
18 |
53,852,384 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2116:Cep120
|
UTSW |
18 |
53,873,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2215:Cep120
|
UTSW |
18 |
53,860,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Cep120
|
UTSW |
18 |
53,873,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3813:Cep120
|
UTSW |
18 |
53,873,284 (GRCm39) |
splice site |
probably benign |
|
|
R4012:Cep120
|
UTSW |
18 |
53,871,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4368:Cep120
|
UTSW |
18 |
53,818,957 (GRCm39) |
splice site |
probably null |
|
|
R4615:Cep120
|
UTSW |
18 |
53,847,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Cep120
|
UTSW |
18 |
53,851,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Cep120
|
UTSW |
18 |
53,857,608 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5195:Cep120
|
UTSW |
18 |
53,854,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5991:Cep120
|
UTSW |
18 |
53,854,870 (GRCm39) |
missense |
probably benign |
|
|
R6156:Cep120
|
UTSW |
18 |
53,836,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6188:Cep120
|
UTSW |
18 |
53,857,529 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6688:Cep120
|
UTSW |
18 |
53,857,608 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6961:Cep120
|
UTSW |
18 |
53,836,277 (GRCm39) |
nonsense |
probably null |
|
|
R7143:Cep120
|
UTSW |
18 |
53,816,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Cep120
|
UTSW |
18 |
53,873,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7813:Cep120
|
UTSW |
18 |
53,871,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Cep120
|
UTSW |
18 |
53,856,175 (GRCm39) |
missense |
probably benign |
|
|
R8677:Cep120
|
UTSW |
18 |
53,871,633 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8724:Cep120
|
UTSW |
18 |
53,856,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9164:Cep120
|
UTSW |
18 |
53,852,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9225:Cep120
|
UTSW |
18 |
53,839,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Cep120
|
UTSW |
18 |
53,852,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9312:Cep120
|
UTSW |
18 |
53,860,713 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9377:Cep120
|
UTSW |
18 |
53,851,592 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9390:Cep120
|
UTSW |
18 |
53,839,984 (GRCm39) |
nonsense |
probably null |
|
|
R9499:Cep120
|
UTSW |
18 |
53,819,033 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9551:Cep120
|
UTSW |
18 |
53,819,033 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-05-07 |
Incidental Mutation