Incidental Mutation 'R1995:Cep120'
ID |
225714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep120
|
Ensembl Gene |
ENSMUSG00000048799 |
Gene Name |
centrosomal protein 120 |
Synonyms |
Ccdc100 |
MMRRC Submission |
040005-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.773)
|
Stock # |
R1995 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
53814795-53877680 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 53873208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 41
(T41I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062433
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049811]
|
AlphaFold |
Q7TSG1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049811
AA Change: T41I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062433 Gene: ENSMUSG00000048799 AA Change: T41I
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
T |
G |
13: 59,678,872 (GRCm39) |
K145N |
probably damaging |
Het |
AY358078 |
T |
A |
14: 52,063,519 (GRCm39) |
D388E |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,493,904 (GRCm39) |
Y496H |
possibly damaging |
Het |
Catsperb |
T |
A |
12: 101,569,026 (GRCm39) |
N899K |
possibly damaging |
Het |
Cenpl |
T |
C |
1: 160,905,994 (GRCm39) |
S123P |
probably damaging |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Cnbd1 |
G |
A |
4: 19,055,112 (GRCm39) |
P105S |
possibly damaging |
Het |
Col6a1 |
T |
C |
10: 76,557,790 (GRCm39) |
N149D |
probably damaging |
Het |
Ctnna3 |
T |
A |
10: 63,656,143 (GRCm39) |
V241D |
probably damaging |
Het |
Dcbld2 |
A |
C |
16: 58,276,695 (GRCm39) |
E495D |
probably benign |
Het |
Dmp1 |
T |
G |
5: 104,357,779 (GRCm39) |
S40A |
possibly damaging |
Het |
Dpysl4 |
A |
G |
7: 138,676,686 (GRCm39) |
I379V |
probably benign |
Het |
Eral1 |
C |
T |
11: 77,965,315 (GRCm39) |
G367S |
probably benign |
Het |
Fah |
C |
T |
7: 84,251,389 (GRCm39) |
R31Q |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,192,293 (GRCm39) |
|
probably null |
Het |
Fbxo40 |
T |
C |
16: 36,790,231 (GRCm39) |
D293G |
probably damaging |
Het |
Gemin6 |
A |
C |
17: 80,535,414 (GRCm39) |
T125P |
probably damaging |
Het |
Gpbar1 |
G |
A |
1: 74,318,603 (GRCm39) |
G282D |
possibly damaging |
Het |
Gria2 |
G |
A |
3: 80,709,664 (GRCm39) |
L10F |
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,942,160 (GRCm39) |
I533T |
probably damaging |
Het |
H2-M9 |
A |
T |
17: 36,952,678 (GRCm39) |
Y123N |
probably damaging |
Het |
Hipk2 |
C |
A |
6: 38,692,909 (GRCm39) |
D868Y |
probably damaging |
Het |
Itprid1 |
T |
C |
6: 55,945,694 (GRCm39) |
I805T |
probably benign |
Het |
Jarid2 |
T |
C |
13: 45,027,917 (GRCm39) |
L123P |
probably damaging |
Het |
Kcnb2 |
C |
A |
1: 15,779,990 (GRCm39) |
N287K |
possibly damaging |
Het |
Kdm8 |
G |
A |
7: 125,051,511 (GRCm39) |
G35S |
probably benign |
Het |
Kirrel1 |
G |
T |
3: 87,003,093 (GRCm39) |
A100D |
possibly damaging |
Het |
Ltbp2 |
T |
G |
12: 84,855,220 (GRCm39) |
|
probably null |
Het |
Mfsd12 |
C |
A |
10: 81,193,515 (GRCm39) |
H28Q |
probably damaging |
Het |
Neb |
C |
T |
2: 52,188,744 (GRCm39) |
V837M |
probably damaging |
Het |
Nkain2 |
A |
G |
10: 32,278,347 (GRCm39) |
I26T |
possibly damaging |
Het |
Nuggc |
A |
G |
14: 65,848,623 (GRCm39) |
R175G |
probably benign |
Het |
Or10ag57 |
T |
G |
2: 87,218,175 (GRCm39) |
I42R |
probably damaging |
Het |
Or5ac23 |
A |
G |
16: 59,149,654 (GRCm39) |
S73P |
probably damaging |
Het |
Or5d35 |
T |
A |
2: 87,856,016 (GRCm39) |
S317T |
probably benign |
Het |
Or8g52 |
T |
C |
9: 39,630,709 (GRCm39) |
F62S |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,228,633 (GRCm39) |
Q1511* |
probably null |
Het |
Piezo2 |
G |
T |
18: 63,211,852 (GRCm39) |
T1311K |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,953,241 (GRCm39) |
Y1218C |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,546,364 (GRCm39) |
S905T |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,285,867 (GRCm39) |
D1035E |
probably damaging |
Het |
Pkn3 |
G |
C |
2: 29,979,989 (GRCm39) |
G744A |
probably damaging |
Het |
Pms1 |
A |
G |
1: 53,234,174 (GRCm39) |
S781P |
probably benign |
Het |
Pogz |
C |
T |
3: 94,785,255 (GRCm39) |
R793W |
probably damaging |
Het |
Prrc2a |
A |
T |
17: 35,376,405 (GRCm39) |
V795D |
probably damaging |
Het |
Rock1 |
G |
A |
18: 10,101,026 (GRCm39) |
R630* |
probably null |
Het |
Scd4 |
T |
A |
19: 44,322,617 (GRCm39) |
I70N |
possibly damaging |
Het |
Serpine2 |
A |
G |
1: 79,799,159 (GRCm39) |
S32P |
probably damaging |
Het |
Slc9c1 |
A |
C |
16: 45,374,618 (GRCm39) |
T328P |
probably damaging |
Het |
Spata31d1b |
G |
C |
13: 59,864,194 (GRCm39) |
L447F |
probably benign |
Het |
Speer2 |
A |
G |
16: 69,654,965 (GRCm39) |
S167P |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Tbcel |
C |
A |
9: 42,362,957 (GRCm39) |
G29W |
probably damaging |
Het |
Tmcc3 |
T |
C |
10: 94,414,468 (GRCm39) |
S57P |
possibly damaging |
Het |
Tmem240 |
T |
A |
4: 155,824,304 (GRCm39) |
D125E |
possibly damaging |
Het |
Ttll7 |
G |
A |
3: 146,667,510 (GRCm39) |
C792Y |
possibly damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,112 (GRCm39) |
I255F |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,734,388 (GRCm39) |
I554F |
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 |
|
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 |
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'- ACCCTGTCTCAAGAGCAGAAATG -3'
(R):5'- TTATGCAACATGTCCGCCG -3'
Sequencing Primer
(F):5'- TGTCTCAAGAGCAGAAATGCAAAAAC -3'
(R):5'- AACATGTCCGCCGGTCAG -3'
|
Posted On |
2014-08-25 |