Incidental Mutation 'IGL01941:Cep120'
| ID |
181160 |
| 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: 0.765)
|
| Stock # |
IGL01941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53856220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 399
(D399G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
| AlphaFold |
Q7TSG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049811
AA Change: D399G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062433
Gene: ENSMUSG00000048799
AA Change: D399G
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
A |
T |
12: 24,094,802 (GRCm39) |
L123Q |
probably benign |
Het |
| Abca2 |
C |
T |
2: 25,333,107 (GRCm39) |
S1602F |
probably benign |
Het |
| Abcc9 |
C |
A |
6: 142,551,630 (GRCm39) |
C1191F |
probably damaging |
Het |
| Adam3 |
G |
T |
8: 25,171,462 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
G |
T |
6: 90,539,677 (GRCm39) |
G202V |
probably damaging |
Het |
| Ankrd46 |
T |
C |
15: 36,486,083 (GRCm39) |
N57D |
possibly damaging |
Het |
| Asic1 |
A |
T |
15: 99,596,982 (GRCm39) |
H548L |
possibly damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,294,724 (GRCm39) |
I233T |
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,769 (GRCm39) |
Q307K |
probably benign |
Het |
| Cnn2 |
G |
A |
10: 79,828,388 (GRCm39) |
V122M |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,852,281 (GRCm39) |
S472P |
probably damaging |
Het |
| Dock5 |
A |
C |
14: 68,049,681 (GRCm39) |
I701S |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,347,184 (GRCm39) |
E570G |
probably benign |
Het |
| Eln |
G |
A |
5: 134,747,024 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,202,831 (GRCm39) |
V81A |
probably benign |
Het |
| Fbxw21 |
T |
G |
9: 108,977,224 (GRCm39) |
I162L |
probably benign |
Het |
| Fhl2 |
G |
A |
1: 43,170,832 (GRCm39) |
Q161* |
probably null |
Het |
| Gabrg2 |
A |
G |
11: 41,862,548 (GRCm39) |
Y179H |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Grik5 |
A |
T |
7: 24,764,607 (GRCm39) |
I152N |
probably damaging |
Het |
| H2-Ab1 |
A |
T |
17: 34,486,408 (GRCm39) |
K156* |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,490,895 (GRCm39) |
Y699C |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,335,811 (GRCm39) |
V202G |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,945,030 (GRCm39) |
R584G |
probably benign |
Het |
| Jmjd6 |
A |
T |
11: 116,732,184 (GRCm39) |
|
probably null |
Het |
| Lama5 |
A |
G |
2: 179,834,185 (GRCm39) |
I1416T |
possibly damaging |
Het |
| Matn1 |
T |
C |
4: 130,679,572 (GRCm39) |
|
probably benign |
Het |
| Mavs |
T |
C |
2: 131,088,525 (GRCm39) |
V443A |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,204,624 (GRCm39) |
S1798R |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,812 (GRCm39) |
C139* |
probably null |
Het |
| Otud7b |
G |
T |
3: 96,062,776 (GRCm39) |
G672C |
probably benign |
Het |
| Palld |
T |
A |
8: 61,988,734 (GRCm39) |
T572S |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,570,902 (GRCm39) |
V379E |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,166,059 (GRCm39) |
V623A |
probably damaging |
Het |
| Prr12 |
C |
T |
7: 44,698,083 (GRCm39) |
|
probably benign |
Het |
| Rxra |
T |
C |
2: 27,644,253 (GRCm39) |
I315T |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,416,338 (GRCm39) |
A55V |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,958,404 (GRCm39) |
N123D |
possibly damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,301 (GRCm39) |
S66G |
probably benign |
Het |
| Spcs1 |
A |
G |
14: 30,722,829 (GRCm39) |
M82T |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,472,116 (GRCm39) |
E113G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,013,994 (GRCm39) |
K3062E |
probably benign |
Het |
| Traf3ip2 |
T |
C |
10: 39,510,656 (GRCm39) |
S310P |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,785,826 (GRCm39) |
L167S |
probably damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,869 (GRCm39) |
C169* |
probably null |
Het |
| Vmn1r223 |
T |
A |
13: 23,434,407 (GRCm39) |
F334I |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,143,820 (GRCm39) |
I710N |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr26 |
A |
G |
1: 181,038,635 (GRCm39) |
|
probably benign |
Het |
| Wnt7a |
A |
G |
6: 91,371,645 (GRCm39) |
F106L |
probably benign |
Het |
| Zfp940 |
C |
T |
7: 29,546,295 (GRCm39) |
V34M |
probably 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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation