Incidental Mutation 'R1015:Cep120'
| ID |
96235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep120
|
| Ensembl Gene |
ENSMUSG00000048799 |
| Gene Name |
centrosomal protein 120 |
| Synonyms |
Ccdc100 |
| MMRRC Submission |
039119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R1015 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 53836193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
| AlphaFold |
Q7TSG1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049811
|
| SMART Domains |
Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3d1 |
A |
G |
10: 80,552,323 (GRCm39) |
V615A |
probably damaging |
Het |
| Atp6v1d |
A |
G |
12: 78,896,543 (GRCm39) |
V108A |
possibly damaging |
Het |
| B3gnt6 |
C |
A |
7: 97,843,802 (GRCm39) |
V53L |
probably benign |
Het |
| C8b |
A |
G |
4: 104,644,157 (GRCm39) |
K275E |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,200,451 (GRCm39) |
N683I |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,710,375 (GRCm39) |
V1535A |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,788,844 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
A |
8: 91,659,206 (GRCm39) |
H55Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,275,049 (GRCm39) |
T2915I |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,472,932 (GRCm39) |
D118V |
probably damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,063,356 (GRCm39) |
H359Y |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 941,687 (GRCm39) |
V1296A |
possibly damaging |
Het |
| Kif27 |
T |
A |
13: 58,468,029 (GRCm39) |
K849N |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,634,377 (GRCm39) |
D736E |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,735 (GRCm39) |
I311T |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,041,945 (GRCm39) |
V63D |
possibly damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,770,959 (GRCm39) |
C295* |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,436,622 (GRCm39) |
H754R |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,116,126 (GRCm39) |
Q767H |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,425 (GRCm39) |
K203E |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,857,736 (GRCm39) |
L126F |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,726,409 (GRCm39) |
H35Q |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,440,183 (GRCm39) |
N412D |
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,780,132 (GRCm39) |
Y36C |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,154 (GRCm39) |
I1246T |
probably damaging |
Het |
| Or5d47 |
T |
C |
2: 87,804,431 (GRCm39) |
T193A |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,426 (GRCm39) |
I200T |
possibly damaging |
Het |
| Patl1 |
T |
C |
19: 11,897,737 (GRCm39) |
V108A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,594 (GRCm39) |
E1847G |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,481,579 (GRCm39) |
V57I |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,613,697 (GRCm39) |
V1083A |
probably damaging |
Het |
| Slc3a2 |
C |
T |
19: 8,685,319 (GRCm39) |
W227* |
probably null |
Het |
| Snx9 |
A |
G |
17: 5,970,402 (GRCm39) |
I379M |
probably benign |
Het |
| Spata31e4 |
T |
G |
13: 50,855,664 (GRCm39) |
V434G |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,225,795 (GRCm39) |
K846E |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,946,155 (GRCm39) |
V326E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,612,748 (GRCm39) |
S462F |
possibly damaging |
Het |
| Trim66 |
C |
T |
7: 109,054,440 (GRCm39) |
V1257I |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,173 (GRCm39) |
Y627H |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,408 (GRCm39) |
L1058P |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,212 (GRCm39) |
S702G |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCTACACATTCCCACTCAGACG -3'
(R):5'- GCCATTCCTTCAGGCATTAAGCCG -3'
Sequencing Primer
(F):5'- CCTTCTGACAAGGGTTGATTTC -3'
(R):5'- TCAGGCATTAAGCCGTTCAATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation