Incidental Mutation 'R8677:Cep120'
| ID |
661481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep120
|
| Ensembl Gene |
ENSMUSG00000048799 |
| Gene Name |
centrosomal protein 120 |
| Synonyms |
Ccdc100 |
| MMRRC Submission |
068532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.765)
|
| Stock # |
R8677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53871633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 80
(F80L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
| AlphaFold |
Q7TSG1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049811
AA Change: F80L
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: F80L
| 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 |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
A |
C |
8: 106,427,576 (GRCm39) |
S25R |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,410,569 (GRCm39) |
H136Q |
probably damaging |
Het |
| Adrm1 |
C |
T |
2: 179,813,832 (GRCm39) |
T2M |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,331,209 (GRCm39) |
L246M |
probably damaging |
Het |
| Bltp2 |
C |
T |
11: 78,174,982 (GRCm39) |
R1706C |
probably damaging |
Het |
| Cacnb3 |
T |
C |
15: 98,539,931 (GRCm39) |
L258P |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,025,493 (GRCm39) |
V76M |
probably damaging |
Het |
| Clcn1 |
A |
T |
6: 42,267,519 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
T |
C |
19: 47,640,240 (GRCm39) |
T1042A |
probably benign |
Het |
| Comp |
A |
T |
8: 70,832,910 (GRCm39) |
N623Y |
probably damaging |
Het |
| Ctnnal1 |
A |
G |
4: 56,813,272 (GRCm39) |
L653P |
probably benign |
Het |
| Cx3cl1 |
G |
T |
8: 95,506,443 (GRCm39) |
R149S |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,522 (GRCm39) |
N58K |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,409,840 (GRCm39) |
I595V |
probably damaging |
Het |
| Dhx15 |
T |
C |
5: 52,341,886 (GRCm39) |
D144G |
probably benign |
Het |
| Dlat |
T |
C |
9: 50,570,007 (GRCm39) |
E120G |
probably damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,221,352 (GRCm39) |
Y273N |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,511,176 (GRCm39) |
V778D |
probably benign |
Het |
| Grn |
T |
C |
11: 102,324,393 (GRCm39) |
S129P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,757 (GRCm39) |
F169L |
possibly damaging |
Het |
| Hcn2 |
A |
G |
10: 79,560,619 (GRCm39) |
I317V |
probably benign |
Het |
| Heca |
T |
C |
10: 17,791,424 (GRCm39) |
N211D |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,414 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ifitm10 |
T |
A |
7: 141,909,749 (GRCm39) |
I116F |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,849,579 (GRCm39) |
H37R |
probably benign |
Het |
| Ivl |
A |
T |
3: 92,479,986 (GRCm39) |
D26E |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,436,418 (GRCm39) |
E761V |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,655,753 (GRCm39) |
V923F |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,799,805 (GRCm39) |
F32L |
probably benign |
Het |
| Micu2 |
T |
C |
14: 58,161,420 (GRCm39) |
R301G |
possibly damaging |
Het |
| Miip |
C |
T |
4: 147,947,503 (GRCm39) |
C219Y |
probably damaging |
Het |
| Mn1 |
T |
A |
5: 111,566,885 (GRCm39) |
L285* |
probably null |
Het |
| Mthfd1l |
T |
A |
10: 3,998,250 (GRCm39) |
N664K |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,810,437 (GRCm39) |
H659Q |
probably benign |
Het |
| Myadml2 |
G |
A |
11: 120,538,815 (GRCm39) |
P7S |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nlrp4c |
C |
T |
7: 6,075,644 (GRCm39) |
T645I |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,359,936 (GRCm39) |
V1260I |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,148 (GRCm39) |
L1293P |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,415 (GRCm39) |
I29F |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,775 (GRCm39) |
L38P |
probably benign |
Het |
| Pcdh12 |
G |
T |
18: 38,415,191 (GRCm39) |
H645N |
probably benign |
Het |
| Pdcd1 |
A |
T |
1: 93,968,952 (GRCm39) |
L122H |
probably damaging |
Het |
| Pknox2 |
G |
A |
9: 36,821,887 (GRCm39) |
P246L |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,626,381 (GRCm39) |
S1590T |
possibly damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,385,122 (GRCm39) |
T335A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,011,335 (GRCm39) |
I598T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,615,828 (GRCm39) |
T337A |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,819,055 (GRCm39) |
T415S |
probably benign |
Het |
| Rbm7 |
T |
A |
9: 48,401,273 (GRCm39) |
R152* |
probably null |
Het |
| Sanbr |
T |
C |
11: 23,545,471 (GRCm39) |
D474G |
probably benign |
Het |
| Sf3b2 |
C |
T |
19: 5,336,257 (GRCm39) |
R513H |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,364,035 (GRCm39) |
S214P |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,984 (GRCm39) |
T312A |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,346,019 (GRCm39) |
T1335A |
possibly damaging |
Het |
| Tef |
T |
A |
15: 81,699,169 (GRCm39) |
L59Q |
probably damaging |
Het |
| Tmem131l |
A |
C |
3: 83,836,009 (GRCm39) |
V700G |
probably damaging |
Het |
| Twsg1 |
A |
G |
17: 66,233,402 (GRCm39) |
S183P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,840,243 (GRCm39) |
T203A |
probably benign |
Het |
| Uqcc6 |
G |
T |
10: 82,456,050 (GRCm39) |
T37K |
possibly damaging |
Het |
| Vmn2r75 |
G |
T |
7: 85,814,410 (GRCm39) |
P361Q |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,346,978 (GRCm39) |
N3073I |
probably damaging |
Het |
| Zfp114 |
A |
G |
7: 23,880,070 (GRCm39) |
N140D |
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 |
|
R7813:Cep120
|
UTSW |
18 |
53,871,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Cep120
|
UTSW |
18 |
53,856,175 (GRCm39) |
missense |
probably benign |
|
|
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'- TCCAATGCAACTGAAGCTAGAG -3'
(R):5'- AGTAATAGTTCTTCCCAGGTAAGG -3'
Sequencing Primer
(F):5'- TGCAACTGAAGCTAGAGTCTAC -3'
(R):5'- GGGATCATTTAGAAAATACAGAGTCG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation