Incidental Mutation 'R8450:Cep170'
ID |
654688 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
067830-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R8450 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 176564445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 271
(L271S)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057037
AA Change: L1467S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: L1467S
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
1.27e-7 |
SMART |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
low complexity region
|
717 |
731 |
N/A |
INTRINSIC |
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
low complexity region
|
770 |
782 |
N/A |
INTRINSIC |
Pfam:CEP170_C
|
801 |
1496 |
3.3e-264 |
PFAM |
low complexity region
|
1533 |
1545 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192927
AA Change: L676S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142032 Gene: ENSMUSG00000057335 AA Change: L676S
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
Pfam:CEP170_C
|
30 |
469 |
3.4e-129 |
PFAM |
Pfam:CEP170_C
|
449 |
708 |
7.4e-102 |
PFAM |
low complexity region
|
742 |
754 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194727
AA Change: L1477S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: L1477S
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
1.27e-7 |
SMART |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
low complexity region
|
717 |
731 |
N/A |
INTRINSIC |
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
low complexity region
|
770 |
782 |
N/A |
INTRINSIC |
Pfam:CEP170_C
|
795 |
1509 |
8e-260 |
PFAM |
low complexity region
|
1543 |
1555 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195433
|
SMART Domains |
Protein: ENSMUSP00000142108 Gene: ENSMUSG00000057335
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
6.1e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195717
AA Change: L1467S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: L1467S
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
1.27e-7 |
SMART |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
low complexity region
|
717 |
731 |
N/A |
INTRINSIC |
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
low complexity region
|
770 |
782 |
N/A |
INTRINSIC |
Pfam:CEP170_C
|
795 |
1499 |
1.8e-261 |
PFAM |
low complexity region
|
1533 |
1545 |
N/A |
INTRINSIC |
|
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.] The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(29) : Gene trapped(29)
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,583,962 (GRCm39) |
|
probably null |
Het |
Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
Armc12 |
T |
A |
17: 28,751,031 (GRCm39) |
D82E |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,296,841 (GRCm39) |
S382P |
probably benign |
Het |
Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
Cers3 |
T |
C |
7: 66,414,090 (GRCm39) |
F92S |
possibly damaging |
Het |
Chmp4c |
A |
T |
3: 10,450,746 (GRCm39) |
M109L |
possibly damaging |
Het |
Cnmd |
T |
A |
14: 79,882,821 (GRCm39) |
K202* |
probably null |
Het |
Cnp |
T |
C |
11: 100,467,267 (GRCm39) |
I70T |
probably damaging |
Het |
Col27a1 |
C |
A |
4: 63,248,134 (GRCm39) |
T1721K |
unknown |
Het |
Crtac1 |
G |
A |
19: 42,297,625 (GRCm39) |
R242W |
probably damaging |
Het |
Cry2 |
T |
C |
2: 92,244,286 (GRCm39) |
R296G |
probably benign |
Het |
Cyp2t4 |
A |
G |
7: 26,856,806 (GRCm39) |
D282G |
possibly damaging |
Het |
Dip2a |
G |
T |
10: 76,100,690 (GRCm39) |
T1495N |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,687,147 (GRCm39) |
|
probably null |
Het |
Dmp1 |
A |
T |
5: 104,360,765 (GRCm39) |
K480N |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,977,873 (GRCm39) |
S1820P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,172,798 (GRCm39) |
V220A |
probably benign |
Het |
Eif4a3l1 |
C |
T |
6: 136,306,241 (GRCm39) |
T234I |
possibly damaging |
Het |
Epha3 |
T |
C |
16: 63,472,853 (GRCm39) |
D344G |
possibly damaging |
Het |
Esyt2 |
C |
A |
12: 116,327,102 (GRCm39) |
Q557K |
probably damaging |
Het |
Fam72a |
A |
T |
1: 131,461,663 (GRCm39) |
D116V |
probably damaging |
Het |
Fam81a |
T |
C |
9: 70,032,300 (GRCm39) |
N64S |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,826,435 (GRCm39) |
T358S |
|
Het |
Frat2 |
A |
T |
19: 41,836,223 (GRCm39) |
I43N |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,226,073 (GRCm39) |
D1863E |
probably benign |
Het |
Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
Gm43302 |
A |
T |
5: 105,422,573 (GRCm39) |
|
probably null |
Het |
Grid2ip |
A |
G |
5: 143,363,273 (GRCm39) |
Y422C |
probably damaging |
Het |
Hap1 |
T |
G |
11: 100,240,107 (GRCm39) |
D563A |
probably damaging |
Het |
Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
Hs3st3b1 |
G |
C |
11: 63,780,390 (GRCm39) |
P246A |
probably benign |
Het |
Hsd17b4 |
T |
G |
18: 50,297,734 (GRCm39) |
L341R |
probably benign |
Het |
Kbtbd11 |
G |
A |
8: 15,078,603 (GRCm39) |
V401M |
probably damaging |
Het |
Lss |
T |
A |
10: 76,371,429 (GRCm39) |
L120Q |
probably damaging |
Het |
Mdc1 |
T |
G |
17: 36,159,191 (GRCm39) |
S524A |
probably benign |
Het |
Myoz3 |
T |
C |
18: 60,712,074 (GRCm39) |
Y168C |
probably damaging |
Het |
Nceh1 |
C |
A |
3: 27,293,813 (GRCm39) |
D190E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,096,194 (GRCm39) |
R5039G |
probably benign |
Het |
Nup50 |
T |
A |
15: 84,819,476 (GRCm39) |
V250E |
probably benign |
Het |
Pcnx3 |
T |
A |
19: 5,723,254 (GRCm39) |
N1314Y |
probably damaging |
Het |
Pdzk1 |
A |
G |
3: 96,759,024 (GRCm39) |
N143S |
probably benign |
Het |
Rnf223 |
T |
G |
4: 156,217,120 (GRCm39) |
L165R |
probably damaging |
Het |
Sbf1 |
A |
T |
15: 89,183,712 (GRCm39) |
F1267Y |
probably damaging |
Het |
Scrn3 |
T |
G |
2: 73,160,113 (GRCm39) |
I252R |
possibly damaging |
Het |
Sdr39u1 |
T |
C |
14: 56,135,363 (GRCm39) |
I193M |
probably damaging |
Het |
Sh2d7 |
A |
G |
9: 54,448,191 (GRCm39) |
R71G |
probably benign |
Het |
Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
Syk |
T |
C |
13: 52,774,935 (GRCm39) |
L225P |
probably damaging |
Het |
Tbx1 |
A |
T |
16: 18,400,795 (GRCm39) |
V463E |
unknown |
Het |
Tmem67 |
C |
T |
4: 12,087,891 (GRCm39) |
R19H |
probably benign |
Het |
Ttn |
T |
A |
2: 76,609,108 (GRCm39) |
I17666F |
possibly damaging |
Het |
Vcpip1 |
A |
G |
1: 9,794,831 (GRCm39) |
V1180A |
probably benign |
Het |
Vps13a |
C |
T |
19: 16,631,871 (GRCm39) |
|
probably null |
Het |
Wdr27 |
T |
C |
17: 15,152,787 (GRCm39) |
T107A |
probably benign |
Het |
Zfp106 |
T |
C |
2: 120,366,099 (GRCm39) |
R58G |
|
Het |
|
Other mutations in Cep170 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00773:Cep170
|
APN |
1 |
176,582,965 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00925:Cep170
|
APN |
1 |
176,621,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00972:Cep170
|
APN |
1 |
176,563,262 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01488:Cep170
|
APN |
1 |
176,583,941 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01916:Cep170
|
APN |
1 |
176,567,476 (GRCm39) |
splice site |
probably benign |
|
IGL02212:Cep170
|
APN |
1 |
176,563,502 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02269:Cep170
|
APN |
1 |
176,596,932 (GRCm39) |
missense |
probably benign |
|
IGL02732:Cep170
|
APN |
1 |
176,564,440 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02740:Cep170
|
APN |
1 |
176,621,166 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Cep170
|
APN |
1 |
176,570,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03036:Cep170
|
APN |
1 |
176,596,903 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03201:Cep170
|
APN |
1 |
176,564,454 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03333:Cep170
|
APN |
1 |
176,597,092 (GRCm39) |
missense |
possibly damaging |
0.64 |
BB003:Cep170
|
UTSW |
1 |
176,588,979 (GRCm39) |
missense |
probably damaging |
0.97 |
BB013:Cep170
|
UTSW |
1 |
176,588,979 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4520001:Cep170
|
UTSW |
1 |
176,607,765 (GRCm39) |
missense |
unknown |
|
R0031:Cep170
|
UTSW |
1 |
176,583,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R0039:Cep170
|
UTSW |
1 |
176,610,061 (GRCm39) |
critical splice donor site |
probably null |
|
R0053:Cep170
|
UTSW |
1 |
176,609,946 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0053:Cep170
|
UTSW |
1 |
176,609,946 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0113:Cep170
|
UTSW |
1 |
176,586,021 (GRCm39) |
missense |
probably damaging |
0.97 |
R0144:Cep170
|
UTSW |
1 |
176,620,161 (GRCm39) |
missense |
probably benign |
0.01 |
R0613:Cep170
|
UTSW |
1 |
176,602,246 (GRCm39) |
missense |
probably benign |
|
R0755:Cep170
|
UTSW |
1 |
176,583,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R1132:Cep170
|
UTSW |
1 |
176,577,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R1367:Cep170
|
UTSW |
1 |
176,563,290 (GRCm39) |
missense |
probably damaging |
0.99 |
R1399:Cep170
|
UTSW |
1 |
176,585,969 (GRCm39) |
missense |
probably damaging |
0.98 |
R1462:Cep170
|
UTSW |
1 |
176,584,211 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1462:Cep170
|
UTSW |
1 |
176,584,211 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1481:Cep170
|
UTSW |
1 |
176,609,951 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1526:Cep170
|
UTSW |
1 |
176,616,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1540:Cep170
|
UTSW |
1 |
176,567,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R1552:Cep170
|
UTSW |
1 |
176,610,060 (GRCm39) |
splice site |
probably benign |
|
R1570:Cep170
|
UTSW |
1 |
176,583,367 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1846:Cep170
|
UTSW |
1 |
176,583,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R1884:Cep170
|
UTSW |
1 |
176,602,245 (GRCm39) |
missense |
probably benign |
0.12 |
R1945:Cep170
|
UTSW |
1 |
176,621,100 (GRCm39) |
nonsense |
probably null |
|
R1954:Cep170
|
UTSW |
1 |
176,583,950 (GRCm39) |
missense |
probably benign |
|
R1957:Cep170
|
UTSW |
1 |
176,597,013 (GRCm39) |
missense |
probably benign |
0.24 |
R2184:Cep170
|
UTSW |
1 |
176,584,542 (GRCm39) |
missense |
probably benign |
0.00 |
R2280:Cep170
|
UTSW |
1 |
176,602,071 (GRCm39) |
missense |
probably benign |
0.17 |
R2426:Cep170
|
UTSW |
1 |
176,602,201 (GRCm39) |
missense |
probably benign |
|
R3415:Cep170
|
UTSW |
1 |
176,583,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R3417:Cep170
|
UTSW |
1 |
176,583,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R3752:Cep170
|
UTSW |
1 |
176,610,061 (GRCm39) |
critical splice donor site |
probably benign |
|
R3848:Cep170
|
UTSW |
1 |
176,583,409 (GRCm39) |
missense |
probably benign |
0.14 |
R3849:Cep170
|
UTSW |
1 |
176,583,409 (GRCm39) |
missense |
probably benign |
0.14 |
R4752:Cep170
|
UTSW |
1 |
176,584,254 (GRCm39) |
missense |
probably benign |
0.00 |
R4910:Cep170
|
UTSW |
1 |
176,609,829 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5007:Cep170
|
UTSW |
1 |
176,597,380 (GRCm39) |
missense |
probably benign |
0.28 |
R5052:Cep170
|
UTSW |
1 |
176,621,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Cep170
|
UTSW |
1 |
176,596,896 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5530:Cep170
|
UTSW |
1 |
176,597,076 (GRCm39) |
missense |
probably benign |
0.00 |
R5622:Cep170
|
UTSW |
1 |
176,563,433 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5892:Cep170
|
UTSW |
1 |
176,582,953 (GRCm39) |
splice site |
probably null |
|
R5942:Cep170
|
UTSW |
1 |
176,583,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R6083:Cep170
|
UTSW |
1 |
176,602,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R6091:Cep170
|
UTSW |
1 |
176,583,397 (GRCm39) |
missense |
probably damaging |
0.98 |
R6190:Cep170
|
UTSW |
1 |
176,609,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R6253:Cep170
|
UTSW |
1 |
176,607,960 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6476:Cep170
|
UTSW |
1 |
176,607,917 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6622:Cep170
|
UTSW |
1 |
176,583,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R6932:Cep170
|
UTSW |
1 |
176,589,003 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7030:Cep170
|
UTSW |
1 |
176,584,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R7163:Cep170
|
UTSW |
1 |
176,602,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:Cep170
|
UTSW |
1 |
176,597,423 (GRCm39) |
missense |
probably benign |
0.11 |
R7499:Cep170
|
UTSW |
1 |
176,602,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Cep170
|
UTSW |
1 |
176,583,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Cep170
|
UTSW |
1 |
176,567,642 (GRCm39) |
missense |
|
|
R7926:Cep170
|
UTSW |
1 |
176,588,979 (GRCm39) |
missense |
probably damaging |
0.97 |
R8043:Cep170
|
UTSW |
1 |
176,596,808 (GRCm39) |
missense |
probably damaging |
0.96 |
R8203:Cep170
|
UTSW |
1 |
176,596,877 (GRCm39) |
missense |
probably benign |
0.28 |
R8350:Cep170
|
UTSW |
1 |
176,564,445 (GRCm39) |
missense |
|
|
R8835:Cep170
|
UTSW |
1 |
176,584,429 (GRCm39) |
missense |
probably benign |
0.00 |
R8931:Cep170
|
UTSW |
1 |
176,597,377 (GRCm39) |
missense |
probably benign |
0.02 |
R9108:Cep170
|
UTSW |
1 |
176,616,051 (GRCm39) |
nonsense |
probably null |
|
R9323:Cep170
|
UTSW |
1 |
176,586,068 (GRCm39) |
missense |
probably benign |
|
R9586:Cep170
|
UTSW |
1 |
176,563,463 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9629:Cep170
|
UTSW |
1 |
176,583,821 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCACTTCCGATAGAGGGAAAC -3'
(R):5'- CAGAACAGATGTTTCAAAACTGTCC -3'
Sequencing Primer
(F):5'- AGGGCCTTACACATGCTAGG -3'
(R):5'- CTTGTGTGTAGCTACGAG -3'
|
Posted On |
2020-10-20 |