Incidental Mutation 'R5942:Cep170'
ID |
460318 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
044134-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R5942 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 176583985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 798
(E798V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195717]
[ENSMUST00000195433]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057037
AA Change: E798V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: E798V
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 |
probably benign
Transcript: ENSMUST00000192664
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192927
AA Change: E33V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142032 Gene: ENSMUSG00000057335 AA Change: E33V
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 |
probably damaging
Transcript: ENSMUST00000194727
AA Change: E798V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: E798V
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 |
noncoding transcript
Transcript: ENSMUST00000194984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195121
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195717
AA Change: E798V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: E798V
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195463
|
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.7%
- 20x: 89.5%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
T |
17: 46,623,333 (GRCm39) |
V860M |
probably benign |
Het |
Accs |
A |
T |
2: 93,666,392 (GRCm39) |
L432M |
probably damaging |
Het |
Actrt3 |
T |
A |
3: 30,652,813 (GRCm39) |
N94Y |
possibly damaging |
Het |
Adamts18 |
T |
C |
8: 114,504,380 (GRCm39) |
Q80R |
probably benign |
Het |
Ccr8 |
G |
T |
9: 119,923,772 (GRCm39) |
V296F |
probably damaging |
Het |
Cttnbp2 |
T |
A |
6: 18,448,439 (GRCm39) |
E73D |
probably damaging |
Het |
Cyp2a4 |
A |
T |
7: 26,010,129 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,117,466 (GRCm39) |
Y41* |
probably null |
Het |
Enc1 |
G |
A |
13: 97,382,887 (GRCm39) |
D466N |
probably benign |
Het |
Enpp1 |
C |
A |
10: 24,551,966 (GRCm39) |
E138* |
probably null |
Het |
Entrep1 |
A |
G |
19: 23,963,834 (GRCm39) |
V245A |
probably damaging |
Het |
Ezh2 |
T |
C |
6: 47,554,516 (GRCm39) |
R27G |
possibly damaging |
Het |
Fut10 |
A |
G |
8: 31,691,485 (GRCm39) |
N110S |
possibly damaging |
Het |
Glt1d1 |
A |
T |
5: 127,721,534 (GRCm39) |
|
probably null |
Het |
Gm14393 |
G |
A |
2: 174,903,689 (GRCm39) |
Q73* |
probably null |
Het |
Gpr156 |
C |
T |
16: 37,825,264 (GRCm39) |
P494S |
probably benign |
Het |
Has2 |
T |
A |
15: 56,531,192 (GRCm39) |
K508* |
probably null |
Het |
Hc |
A |
T |
2: 34,918,137 (GRCm39) |
C715* |
probably null |
Het |
Hook2 |
C |
T |
8: 85,721,409 (GRCm39) |
|
probably null |
Het |
Klhdc7b |
A |
C |
15: 89,271,634 (GRCm39) |
I839L |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,516,792 (GRCm39) |
L1584P |
probably damaging |
Het |
Lamp1 |
T |
C |
8: 13,223,941 (GRCm39) |
F358L |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Mga |
A |
G |
2: 119,777,440 (GRCm39) |
I1871V |
probably benign |
Het |
Mgmt |
T |
A |
7: 136,723,219 (GRCm39) |
D96E |
probably benign |
Het |
Morc2a |
C |
A |
11: 3,629,936 (GRCm39) |
T424K |
probably damaging |
Het |
Myo1g |
A |
G |
11: 6,464,888 (GRCm39) |
L462P |
probably damaging |
Het |
Ncaph |
C |
A |
2: 126,958,608 (GRCm39) |
|
probably null |
Het |
Nlrc3 |
A |
T |
16: 3,767,293 (GRCm39) |
D969E |
probably damaging |
Het |
Nt5c3 |
A |
T |
6: 56,874,839 (GRCm39) |
|
probably null |
Het |
Or4c12b |
G |
T |
2: 89,646,684 (GRCm39) |
E5* |
probably null |
Het |
Or5ac15 |
A |
T |
16: 58,940,039 (GRCm39) |
Y131* |
probably null |
Het |
Or5d41 |
A |
C |
2: 88,054,916 (GRCm39) |
I153M |
probably benign |
Het |
Or8h8 |
T |
C |
2: 86,753,750 (GRCm39) |
N42S |
probably damaging |
Het |
Parp14 |
C |
A |
16: 35,659,737 (GRCm39) |
M1628I |
probably damaging |
Het |
Parp8 |
G |
T |
13: 117,005,969 (GRCm39) |
P693Q |
probably benign |
Het |
Parp9 |
A |
G |
16: 35,792,259 (GRCm39) |
D485G |
possibly damaging |
Het |
Pcdha1 |
T |
A |
18: 37,063,444 (GRCm39) |
V36D |
probably damaging |
Het |
Pcdhb5 |
C |
T |
18: 37,453,838 (GRCm39) |
Q73* |
probably null |
Het |
Pecam1 |
G |
T |
11: 106,552,809 (GRCm39) |
|
probably benign |
Het |
Pex1 |
A |
G |
5: 3,660,277 (GRCm39) |
I527V |
probably benign |
Het |
Phf11 |
G |
A |
14: 59,497,593 (GRCm39) |
P13S |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,553,706 (GRCm39) |
V388D |
possibly damaging |
Het |
Psmc4 |
C |
T |
7: 27,746,480 (GRCm39) |
V202I |
probably damaging |
Het |
Ptx3 |
T |
G |
3: 66,127,484 (GRCm39) |
M1R |
probably null |
Het |
Rimbp3 |
A |
G |
16: 17,029,752 (GRCm39) |
T1059A |
probably benign |
Het |
Rmdn3 |
G |
A |
2: 118,978,058 (GRCm39) |
A181V |
probably damaging |
Het |
Rnase10 |
A |
T |
14: 51,246,735 (GRCm39) |
M38L |
probably benign |
Het |
Sec16b |
T |
A |
1: 157,358,920 (GRCm39) |
Y118N |
probably damaging |
Het |
Sigmar1 |
T |
C |
4: 41,741,159 (GRCm39) |
T32A |
probably benign |
Het |
Srcap |
A |
G |
7: 127,137,180 (GRCm39) |
D954G |
probably damaging |
Het |
Tfrc |
A |
G |
16: 32,445,533 (GRCm39) |
N618S |
possibly damaging |
Het |
Tnrc6a |
A |
G |
7: 122,785,888 (GRCm39) |
D1028G |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,385,860 (GRCm39) |
D1379E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,580,505 (GRCm39) |
C23463S |
possibly damaging |
Het |
Ufl1 |
T |
C |
4: 25,250,619 (GRCm39) |
T745A |
probably benign |
Het |
Vmn1r231 |
T |
A |
17: 21,110,417 (GRCm39) |
Y166F |
possibly damaging |
Het |
Wbp1l |
C |
A |
19: 46,642,869 (GRCm39) |
T290K |
probably damaging |
Het |
Wdr25 |
A |
G |
12: 108,864,392 (GRCm39) |
N179S |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,942,504 (GRCm39) |
Q1035* |
probably null |
Het |
Yif1a |
C |
T |
19: 5,141,669 (GRCm39) |
R196C |
probably damaging |
Het |
Zfp352 |
A |
T |
4: 90,113,307 (GRCm39) |
K482N |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
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 |
|
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 |
|
|
R8450: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'- TTCTCGGAGTCTACTTGCAGAC -3'
(R):5'- CAAACATTGGCTAAAATGCAGCAG -3'
Sequencing Primer
(F):5'- CTACTTGCAGACGTCAGTGCTAAG -3'
(R):5'- CAGCAGCAAGAGCAAAAGGAGC -3'
|
Posted On |
2017-02-28 |