Incidental Mutation 'R7813:Cep120'
| ID |
601317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep120
|
| Ensembl Gene |
ENSMUSG00000048799 |
| Gene Name |
centrosomal protein 120 |
| Synonyms |
Ccdc100 |
| MMRRC Submission |
045868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R7813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53871578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 98
(D98G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
| AlphaFold |
Q7TSG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049811
AA Change: D98G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: D98G
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
A |
10: 29,100,896 (GRCm39) |
R423K |
probably benign |
Het |
| Acot7 |
T |
C |
4: 152,307,575 (GRCm39) |
S170P |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,380,620 (GRCm39) |
Q341R |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,082,189 (GRCm39) |
E1206G |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 112,008,133 (GRCm39) |
K122N |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,049,726 (GRCm39) |
L203P |
possibly damaging |
Het |
| C1rb |
A |
T |
6: 124,557,488 (GRCm39) |
I542F |
probably benign |
Het |
| Cadm3 |
C |
A |
1: 173,171,956 (GRCm39) |
V206L |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,885,419 (GRCm39) |
D380G |
probably damaging |
Het |
| Ccdc42 |
A |
T |
11: 68,488,534 (GRCm39) |
Q164L |
probably benign |
Het |
| Ccnd1 |
A |
G |
7: 144,491,622 (GRCm39) |
|
probably null |
Het |
| Chrd |
A |
G |
16: 20,554,155 (GRCm39) |
T336A |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,790,726 (GRCm39) |
A449S |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,657,245 (GRCm39) |
F844L |
probably benign |
Het |
| Fbxo11 |
T |
A |
17: 88,308,245 (GRCm39) |
I480F |
|
Het |
| Fcrl5 |
A |
G |
3: 87,350,930 (GRCm39) |
T147A |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,969,320 (GRCm39) |
I133F |
|
Het |
| Gpr155 |
C |
T |
2: 73,212,329 (GRCm39) |
W98* |
probably null |
Het |
| Hspa4 |
A |
G |
11: 53,162,863 (GRCm39) |
S408P |
probably damaging |
Het |
| Il12rb2 |
G |
A |
6: 67,333,635 (GRCm39) |
R215C |
possibly damaging |
Het |
| Itga5 |
T |
A |
15: 103,265,741 (GRCm39) |
|
probably null |
Het |
| Kcnip3 |
T |
A |
2: 127,323,703 (GRCm39) |
|
probably null |
Het |
| Krt12 |
A |
G |
11: 99,309,309 (GRCm39) |
|
probably null |
Het |
| Marchf3 |
A |
T |
18: 56,916,163 (GRCm39) |
S177R |
probably benign |
Het |
| Minpp1 |
T |
G |
19: 32,468,803 (GRCm39) |
F229V |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,282,543 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
G |
11: 68,676,735 (GRCm39) |
T906A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,218,056 (GRCm39) |
D43G |
probably benign |
Het |
| Nacad |
C |
T |
11: 6,549,071 (GRCm39) |
D1327N |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,331,048 (GRCm39) |
Y2219F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,953,163 (GRCm39) |
S1130P |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,486,719 (GRCm39) |
N415S |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,665,678 (GRCm39) |
I293V |
possibly damaging |
Het |
| Prpf38a |
A |
T |
4: 108,436,277 (GRCm39) |
I12N |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,372,413 (GRCm39) |
V1420M |
probably damaging |
Het |
| Qars1 |
A |
G |
9: 108,386,670 (GRCm39) |
D161G |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,247,549 (GRCm39) |
D957E |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,689 (GRCm39) |
Y1400C |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,832,801 (GRCm39) |
I999V |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,181,958 (GRCm39) |
L1054H |
probably damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,088,455 (GRCm39) |
A906T |
probably damaging |
Het |
| Srd5a2 |
A |
G |
17: 74,331,541 (GRCm39) |
F152S |
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,835,888 (GRCm39) |
L241* |
probably null |
Het |
| Strip2 |
A |
T |
6: 29,923,912 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
A |
C |
6: 42,650,363 (GRCm39) |
Y905* |
probably null |
Het |
| Tet2 |
T |
C |
3: 133,179,404 (GRCm39) |
I1254V |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,487,522 (GRCm39) |
N681I |
probably damaging |
Het |
| Trappc6a |
A |
G |
7: 19,248,124 (GRCm39) |
|
probably null |
Het |
| Trav12-2 |
A |
T |
14: 53,854,223 (GRCm39) |
K66* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,597,841 (GRCm39) |
I19691F |
probably damaging |
Het |
| Tubgcp5 |
A |
T |
7: 55,450,444 (GRCm39) |
Q185L |
possibly damaging |
Het |
| Vmn1r44 |
A |
T |
6: 89,869,192 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,628,820 (GRCm39) |
D2717G |
possibly damaging |
Het |
| Vps13d |
A |
T |
4: 144,904,633 (GRCm39) |
Y133* |
probably null |
Het |
| Zer1 |
T |
C |
2: 30,000,385 (GRCm39) |
D265G |
probably damaging |
Het |
| Zfp710 |
A |
G |
7: 79,730,859 (GRCm39) |
D12G |
possibly damaging |
Het |
| Zfp819 |
T |
C |
7: 43,266,191 (GRCm39) |
S225P |
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 |
|
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 |
|
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'- CCAGAGCAAGTTTCCTGGAG -3'
(R):5'- CCAGCAAGGGTGTAATCTGGAG -3'
Sequencing Primer
(F):5'- TTTCCTGGAGAAAGATGGCTCAC -3'
(R):5'- AGGATACAGTTATCTTGCGGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation