Incidental Mutation 'R1037:Cep57'
| ID |
93871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep57
|
| Ensembl Gene |
ENSMUSG00000031922 |
| Gene Name |
centrosomal protein 57 |
| Synonyms |
4931428M20Rik, 3110002L15Rik, Tsp57, 4921510P06Rik |
| MMRRC Submission |
039136-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R1037 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
13719088-13738403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13730275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 61
(I61V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034398]
[ENSMUST00000124883]
[ENSMUST00000134746]
[ENSMUST00000142494]
[ENSMUST00000144484]
[ENSMUST00000147115]
[ENSMUST00000148086]
[ENSMUST00000150893]
|
| AlphaFold |
Q8CEE0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034398
AA Change: I88V
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922
AA Change: I88V
| 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 benign
Transcript: ENSMUST00000124883
|
| SMART Domains |
Protein: ENSMUSP00000119081
Gene: ENSMUSG00000031922
| 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 |
probably benign
Transcript: ENSMUST00000134746
AA Change: I88V
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922
AA Change: I88V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Cep57_CLD
|
68 |
209 |
1e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142494
AA Change: I88V
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922
AA Change: I88V
| 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 |
possibly damaging
Transcript: ENSMUST00000147115
AA Change: I88V
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922
AA Change: I88V
| 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 |
possibly damaging
Transcript: ENSMUST00000148086
AA Change: I61V
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922
AA Change: I61V
| 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: ENSMUST00000148904
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150893
|
| SMART Domains |
Protein: ENSMUSP00000115338
Gene: ENSMUSG00000031922
| 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 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 |
|
| Meta Mutation Damage Score |
0.0609 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.1%
- 10x: 94.3%
- 20x: 85.9%
|
| Validation Efficiency |
100% (58/58) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,328,240 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,875,657 (GRCm39) |
N610I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,984,982 (GRCm39) |
F2089L |
probably benign |
Het |
| Cacnb1 |
T |
C |
11: 97,895,843 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,380,974 (GRCm39) |
I110T |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,725,702 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
C |
3: 113,987,801 (GRCm39) |
E265A |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,251 (GRCm39) |
|
probably benign |
Het |
| Cyp24a1 |
G |
A |
2: 170,333,537 (GRCm39) |
T272M |
probably damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,347,193 (GRCm39) |
L415R |
probably damaging |
Het |
| Dbnl |
T |
C |
11: 5,746,807 (GRCm39) |
F179S |
probably damaging |
Het |
| Eepd1 |
T |
C |
9: 25,498,079 (GRCm39) |
L388P |
possibly damaging |
Het |
| Exosc8 |
G |
T |
3: 54,640,159 (GRCm39) |
A55E |
probably damaging |
Het |
| Fam72a |
G |
A |
1: 131,461,557 (GRCm39) |
V81I |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,700,277 (GRCm39) |
M2182I |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,862,322 (GRCm39) |
P2234S |
probably damaging |
Het |
| Grn |
C |
A |
11: 102,323,896 (GRCm39) |
D33E |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,456,163 (GRCm39) |
|
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,417 (GRCm39) |
V42E |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,378 (GRCm39) |
Q229R |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,412 (GRCm39) |
E308G |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,330 (GRCm39) |
M319V |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,138,698 (GRCm39) |
I672M |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,664 (GRCm39) |
L223P |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,276,182 (GRCm39) |
K554E |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,524,246 (GRCm39) |
T383I |
probably damaging |
Het |
| Opcml |
T |
A |
9: 28,814,595 (GRCm39) |
D290E |
probably damaging |
Het |
| Or10a3b |
T |
A |
7: 108,445,191 (GRCm39) |
T9S |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,376 (GRCm39) |
D189V |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 87,954,573 (GRCm39) |
I252T |
probably damaging |
Het |
| Or5k14 |
T |
C |
16: 58,693,333 (GRCm39) |
Y60C |
probably damaging |
Het |
| Palm3 |
C |
A |
8: 84,755,901 (GRCm39) |
T471K |
probably benign |
Het |
| Prl2c5 |
T |
A |
13: 13,360,492 (GRCm39) |
L50* |
probably null |
Het |
| Pzp |
T |
C |
6: 128,496,389 (GRCm39) |
N281S |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,590,900 (GRCm39) |
Y1722C |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,699,453 (GRCm39) |
V879A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,531,975 (GRCm39) |
S736P |
possibly damaging |
Het |
| Septin5 |
G |
A |
16: 18,441,844 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,298,996 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,010,433 (GRCm39) |
T1976S |
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,246,320 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,446,688 (GRCm39) |
W853R |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,953,532 (GRCm39) |
Q983L |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,347 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
A |
T |
5: 86,638,606 (GRCm39) |
V294D |
probably damaging |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,082 (GRCm39) |
S463G |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,385 (GRCm39) |
|
probably benign |
Het |
| Ttc1 |
A |
G |
11: 43,621,326 (GRCm39) |
V285A |
possibly damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,278 (GRCm39) |
R303H |
possibly damaging |
Het |
| Vwa8 |
C |
A |
14: 79,324,094 (GRCm39) |
C1132* |
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 |
|
|
IGL02250:Cep57
|
APN |
9 |
13,721,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCGTCAAATATGCCACACACTG -3'
(R):5'- AGTGCTCTGCTGCTTGGCTTAC -3'
Sequencing Primer
(F):5'- GATGTAATTCCTTACCAGTGACCAC -3'
(R):5'- cctctagcccagcgtttc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation