Incidental Mutation 'IGL03379:Cep120'
| ID |
420624 |
| 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 # |
IGL03379
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53842208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 709
(S709N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
| AlphaFold |
Q7TSG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049811
AA Change: S709N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: S709N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,809,602 (GRCm39) |
T260A |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,885,500 (GRCm39) |
V559A |
probably benign |
Het |
| Arrdc5 |
G |
A |
17: 56,601,589 (GRCm39) |
Q179* |
probably null |
Het |
| Atrnl1 |
T |
C |
19: 57,630,973 (GRCm39) |
Y247H |
probably benign |
Het |
| Bend5 |
T |
A |
4: 111,311,468 (GRCm39) |
S361T |
probably benign |
Het |
| Cdc20b |
A |
G |
13: 113,217,736 (GRCm39) |
D385G |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,347,355 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
T |
A |
12: 78,913,354 (GRCm39) |
D18E |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,666,827 (GRCm39) |
S209N |
possibly damaging |
Het |
| Farp2 |
T |
A |
1: 93,535,160 (GRCm39) |
F636L |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,789,342 (GRCm39) |
D636V |
possibly damaging |
Het |
| Gm5082 |
T |
C |
13: 41,809,902 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird1 |
C |
T |
5: 134,411,392 (GRCm39) |
G672D |
possibly damaging |
Het |
| Heatr3 |
A |
G |
8: 88,876,738 (GRCm39) |
K143R |
probably benign |
Het |
| Hrc |
A |
G |
7: 44,986,679 (GRCm39) |
E610G |
probably benign |
Het |
| Ica1l |
G |
A |
1: 60,036,780 (GRCm39) |
S337F |
probably benign |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,625 (GRCm39) |
Y99C |
probably benign |
Het |
| Kcna3 |
T |
A |
3: 106,944,521 (GRCm39) |
F261L |
probably benign |
Het |
| Kdm4d |
T |
C |
9: 14,375,139 (GRCm39) |
R240G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,058,447 (GRCm39) |
I620N |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,591,104 (GRCm39) |
M55V |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,035,062 (GRCm39) |
L366Q |
possibly damaging |
Het |
| Or5p68 |
T |
C |
7: 107,946,196 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
T |
C |
5: 150,711,796 (GRCm39) |
V918A |
probably damaging |
Het |
| Plcz1 |
G |
A |
6: 139,936,490 (GRCm39) |
L580F |
possibly damaging |
Het |
| Prlr |
C |
A |
15: 10,319,403 (GRCm39) |
P147T |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,509,338 (GRCm39) |
|
probably null |
Het |
| Ptprt |
A |
T |
2: 161,397,379 (GRCm39) |
C1109* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,199,907 (GRCm39) |
S1212R |
probably benign |
Het |
| Scn2b |
T |
A |
9: 45,037,498 (GRCm39) |
C182S |
probably damaging |
Het |
| Slc7a14 |
A |
T |
3: 31,277,664 (GRCm39) |
M647K |
probably damaging |
Het |
| Sult2a6 |
G |
A |
7: 13,956,511 (GRCm39) |
T250I |
probably benign |
Het |
| Syn3 |
A |
T |
10: 85,900,736 (GRCm39) |
M384K |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,685,561 (GRCm39) |
T596A |
probably benign |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Vat1l |
A |
T |
8: 115,009,006 (GRCm39) |
I247F |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,906 (GRCm39) |
D223G |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,200,847 (GRCm39) |
D99E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,462,477 (GRCm39) |
V901I |
unknown |
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 |
|
IGL01906:Cep120
|
APN |
18 |
53,847,984 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation