Incidental Mutation 'R9390:Cep120'
| ID |
710571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep120
|
| Ensembl Gene |
ENSMUSG00000048799 |
| Gene Name |
centrosomal protein 120 |
| Synonyms |
Ccdc100 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R9390 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 53839984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 759
(R759*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
| AlphaFold |
Q7TSG1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049811
AA Change: R759*
|
| SMART Domains |
Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: R759*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,853,096 (GRCm39) |
S13R |
probably benign |
Het |
| Amn1 |
A |
T |
6: 149,084,983 (GRCm39) |
D32E |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,635,927 (GRCm39) |
D108G |
probably damaging |
Het |
| C1rb |
T |
C |
6: 124,557,336 (GRCm39) |
L491P |
probably damaging |
Het |
| Chmp6 |
C |
T |
11: 119,806,288 (GRCm39) |
T38M |
possibly damaging |
Het |
| Comtd1 |
A |
G |
14: 21,898,867 (GRCm39) |
F25S |
possibly damaging |
Het |
| Dthd1 |
G |
A |
5: 62,975,904 (GRCm39) |
G193R |
possibly damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,474,330 (GRCm39) |
S362R |
probably damaging |
Het |
| Ecm2 |
A |
G |
13: 49,683,792 (GRCm39) |
D590G |
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,354,180 (GRCm39) |
W293R |
probably damaging |
Het |
| Fam110a |
C |
T |
2: 151,812,116 (GRCm39) |
R218Q |
probably benign |
Het |
| Fga |
A |
T |
3: 82,940,610 (GRCm39) |
N755Y |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 52,891,102 (GRCm39) |
T80K |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,208,783 (GRCm39) |
K109E |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,190,607 (GRCm39) |
V1009A |
probably null |
Het |
| Herc6 |
C |
T |
6: 57,602,955 (GRCm39) |
Q545* |
probably null |
Het |
| Hpd |
T |
A |
5: 123,318,794 (GRCm39) |
|
probably null |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,497,522 (GRCm39) |
V114A |
probably damaging |
Het |
| Ints14 |
A |
G |
9: 64,891,314 (GRCm39) |
T432A |
probably benign |
Het |
| Isoc1 |
G |
A |
18: 58,804,350 (GRCm39) |
R126H |
probably damaging |
Het |
| Klb |
G |
T |
5: 65,533,044 (GRCm39) |
R451L |
possibly damaging |
Het |
| Lrtm2 |
C |
T |
6: 119,297,948 (GRCm39) |
C31Y |
probably benign |
Het |
| Mga |
C |
T |
2: 119,794,332 (GRCm39) |
S2672F |
probably damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,069,288 (GRCm39) |
I168V |
probably benign |
Het |
| Mlph |
C |
T |
1: 90,867,088 (GRCm39) |
T370I |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,162,725 (GRCm39) |
I478F |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,065,157 (GRCm39) |
H6251Q |
probably benign |
Het |
| Nom1 |
C |
T |
5: 29,639,766 (GRCm39) |
R31C |
probably benign |
Het |
| Nup153 |
A |
C |
13: 46,840,642 (GRCm39) |
F989V |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,220,777 (GRCm39) |
|
probably null |
Het |
| Or4c12 |
T |
C |
2: 89,773,569 (GRCm39) |
K297E |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Or6c210 |
A |
G |
10: 129,495,938 (GRCm39) |
T88A |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pcare |
T |
C |
17: 72,057,983 (GRCm39) |
T565A |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,781 (GRCm39) |
V697A |
possibly damaging |
Het |
| Pds5a |
G |
T |
5: 65,823,600 (GRCm39) |
Q64K |
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,810 (GRCm39) |
F353L |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,656,937 (GRCm39) |
C221Y |
probably damaging |
Het |
| Qrfp |
A |
G |
2: 31,698,749 (GRCm39) |
V61A |
possibly damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,932 (GRCm39) |
I393M |
probably benign |
Het |
| Sh2d5 |
T |
G |
4: 137,985,481 (GRCm39) |
S310A |
probably benign |
Het |
| Shisa9 |
A |
G |
16: 12,085,408 (GRCm39) |
E339G |
possibly damaging |
Het |
| Slc26a10 |
C |
T |
10: 127,009,239 (GRCm39) |
E641K |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,197,803 (GRCm39) |
V302A |
possibly damaging |
Het |
| Tdrd7 |
T |
A |
4: 46,005,416 (GRCm39) |
D407E |
probably damaging |
Het |
| Trp53 |
A |
T |
11: 69,478,394 (GRCm39) |
Q101L |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,823,824 (GRCm39) |
N994Y |
probably damaging |
Het |
| Ttc16 |
T |
G |
2: 32,657,195 (GRCm39) |
K577Q |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,462,535 (GRCm39) |
I2V |
probably benign |
Het |
| Vmn2r83 |
G |
T |
10: 79,317,322 (GRCm39) |
E522* |
probably null |
Het |
| Wdr48 |
T |
A |
9: 119,746,245 (GRCm39) |
F450L |
probably benign |
Het |
| Wnt9a |
G |
A |
11: 59,218,592 (GRCm39) |
E100K |
possibly damaging |
Het |
| Zfp729b |
A |
T |
13: 67,739,182 (GRCm39) |
S1028T |
probably benign |
Het |
| Zfp729b |
C |
T |
13: 67,742,014 (GRCm39) |
V84I |
possibly damaging |
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 |
|
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 |
|
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'- CTCTGGGCAGTGAGTACCA -3'
(R):5'- TGGGATTTCTTGGACCCACCA -3'
Sequencing Primer
(F):5'- GTGAGTACCACAGTCCAAGC -3'
(R):5'- TCTGCGGGTACAGAATTACC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation