Incidental Mutation 'IGL02250:Cep57'
| ID |
286364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep57
|
| Ensembl Gene |
ENSMUSG00000031922 |
| Gene Name |
centrosomal protein 57 |
| Synonyms |
4931428M20Rik, 3110002L15Rik, Tsp57, 4921510P06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL02250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
13719088-13738403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13721939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 221
(F221I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034396]
[ENSMUST00000034398]
[ENSMUST00000124883]
[ENSMUST00000134674]
[ENSMUST00000134746]
[ENSMUST00000147115]
[ENSMUST00000150893]
[ENSMUST00000148086]
[ENSMUST00000142494]
[ENSMUST00000144484]
[ENSMUST00000155679]
|
| AlphaFold |
Q8CEE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034396
|
| SMART Domains |
Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
GRAM
|
65 |
139 |
1.57e-11 |
SMART |
|
Pfam:Myotub-related
|
192 |
529 |
1.7e-152 |
PFAM |
|
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034398
AA Change: F370I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922
AA Change: F370I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Cep57_CLD
|
68 |
245 |
9.8e-67 |
PFAM |
|
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
|
Pfam:Cep57_MT_bd
|
348 |
420 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124524
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124883
AA Change: F221I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119081
Gene: ENSMUSG00000031922
AA Change: F221I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
1 |
96 |
4.7e-34 |
PFAM |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
Pfam:Cep57_MT_bd
|
196 |
271 |
4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134674
|
| SMART Domains |
Protein: ENSMUSP00000121933
Gene: ENSMUSG00000031918
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1M7R|B
|
1 |
62 |
2e-9 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134746
|
| SMART Domains |
Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Cep57_CLD
|
68 |
209 |
1e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147115
AA Change: F344I
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922
AA Change: F344I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Cep57_CLD
|
68 |
245 |
2.1e-72 |
PFAM |
|
low complexity region
|
254 |
275 |
N/A |
INTRINSIC |
|
Pfam:Cep57_MT_bd
|
319 |
394 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150893
AA Change: F221I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115338
Gene: ENSMUSG00000031922
AA Change: F221I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
1 |
96 |
5.2e-37 |
PFAM |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
Pfam:Cep57_MT_bd
|
196 |
271 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148086
AA Change: F343I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922
AA Change: F343I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
41 |
218 |
1e-71 |
PFAM |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
Pfam:Cep57_MT_bd
|
318 |
393 |
6e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148904
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142494
|
| SMART Domains |
Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Cep57_CLD
|
68 |
245 |
3.3e-72 |
PFAM |
|
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144484
|
| SMART Domains |
Protein: ENSMUSP00000114940
Gene: ENSMUSG00000031922
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151878
|
| SMART Domains |
Protein: ENSMUSP00000116847
Gene: ENSMUSG00000031922
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
1 |
133 |
1.6e-43 |
PFAM |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155679
|
| SMART Domains |
Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918
| Domain | Start | End | E-Value | Type |
|---|
|
GRAM
|
3 |
67 |
6.19e-10 |
SMART |
|
Pfam:Myotub-related
|
119 |
459 |
6.7e-152 |
PFAM |
|
Pfam:Y_phosphatase
|
266 |
370 |
3.9e-6 |
PFAM |
|
low complexity region
|
544 |
559 |
N/A |
INTRINSIC |
|
| 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 cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
T |
A |
7: 28,329,135 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Areg |
T |
A |
5: 91,288,967 (GRCm39) |
I91K |
possibly damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,993 (GRCm39) |
R79C |
probably benign |
Het |
| Bbs2 |
A |
T |
8: 94,819,054 (GRCm39) |
I105N |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,756,337 (GRCm39) |
I1090N |
probably damaging |
Het |
| Ccdc90b |
T |
A |
7: 92,223,823 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
C |
T |
2: 91,379,246 (GRCm39) |
A62V |
probably damaging |
Het |
| Cntn5 |
G |
A |
9: 10,145,336 (GRCm39) |
R125C |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,352,240 (GRCm39) |
D321E |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,139,550 (GRCm39) |
|
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,088,166 (GRCm39) |
S184T |
probably benign |
Het |
| Emcn |
T |
A |
3: 137,124,747 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,326,899 (GRCm39) |
|
probably benign |
Het |
| Gas2 |
T |
A |
7: 51,537,786 (GRCm39) |
M37K |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,297,361 (GRCm39) |
S100G |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,229,052 (GRCm39) |
C49R |
probably damaging |
Het |
| Lhx2 |
T |
A |
2: 38,244,845 (GRCm39) |
D236E |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,042,000 (GRCm39) |
S1273T |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,359,557 (GRCm39) |
I138T |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,460,251 (GRCm39) |
Y66* |
probably null |
Het |
| Nup160 |
A |
G |
2: 90,539,214 (GRCm39) |
R798G |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,222 (GRCm39) |
I250V |
probably damaging |
Het |
| Or8b54 |
C |
A |
9: 38,686,850 (GRCm39) |
Q100K |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,706,893 (GRCm39) |
G548E |
probably benign |
Het |
| Radil |
A |
G |
5: 142,529,529 (GRCm39) |
S56P |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,959,489 (GRCm39) |
M1137K |
probably benign |
Het |
| Serpina1c |
T |
G |
12: 103,863,487 (GRCm39) |
M238L |
probably benign |
Het |
| Tbc1d14 |
A |
G |
5: 36,728,863 (GRCm39) |
S168P |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,487,387 (GRCm39) |
S498P |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,312,135 (GRCm39) |
Y607H |
probably damaging |
Het |
| Vipr1 |
A |
G |
9: 121,494,255 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,356 (GRCm39) |
T2199I |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,509,883 (GRCm39) |
S86P |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,489,994 (GRCm39) |
K1254E |
possibly damaging |
Het |
| Zfp873 |
T |
A |
10: 81,894,252 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Cep57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:Cep57
|
APN |
9 |
13,730,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01712:Cep57
|
APN |
9 |
13,724,713 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01965:Cep57
|
APN |
9 |
13,732,816 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02378:Cep57
|
APN |
9 |
13,732,842 (GRCm39) |
nonsense |
probably null |
|
|
IGL02943:Cep57
|
APN |
9 |
13,730,149 (GRCm39) |
splice site |
probably benign |
|
|
IGL03244:Cep57
|
APN |
9 |
13,729,683 (GRCm39) |
nonsense |
probably null |
|
|
R0082:Cep57
|
UTSW |
9 |
13,722,172 (GRCm39) |
unclassified |
probably benign |
|
|
R0330:Cep57
|
UTSW |
9 |
13,728,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0786:Cep57
|
UTSW |
9 |
13,721,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0962:Cep57
|
UTSW |
9 |
13,720,039 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1037:Cep57
|
UTSW |
9 |
13,730,275 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1472:Cep57
|
UTSW |
9 |
13,732,850 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1773:Cep57
|
UTSW |
9 |
13,727,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Cep57
|
UTSW |
9 |
13,730,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4162:Cep57
|
UTSW |
9 |
13,723,929 (GRCm39) |
splice site |
probably null |
|
|
R4895:Cep57
|
UTSW |
9 |
13,727,449 (GRCm39) |
intron |
probably benign |
|
|
R4942:Cep57
|
UTSW |
9 |
13,724,723 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5310:Cep57
|
UTSW |
9 |
13,730,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Cep57
|
UTSW |
9 |
13,732,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5996:Cep57
|
UTSW |
9 |
13,721,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6058:Cep57
|
UTSW |
9 |
13,722,057 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7065:Cep57
|
UTSW |
9 |
13,729,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Cep57
|
UTSW |
9 |
13,729,980 (GRCm39) |
intron |
probably benign |
|
|
R7421:Cep57
|
UTSW |
9 |
13,721,969 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7945:Cep57
|
UTSW |
9 |
13,730,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Cep57
|
UTSW |
9 |
13,737,980 (GRCm39) |
unclassified |
probably benign |
|
|
R9243:Cep57
|
UTSW |
9 |
13,738,204 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation