Incidental Mutation 'PIT4520001:Cep170'
ID |
555154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
PIT4520001 (G1)
|
Quality Score |
195.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 176607765 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 230
(N230K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142271
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192961]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057037
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335
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 |
unknown
Transcript: ENSMUST00000192961
AA Change: N230K
|
SMART Domains |
Protein: ENSMUSP00000142271 Gene: ENSMUSG00000057335 AA Change: N230K
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
1.27e-7 |
SMART |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194371
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194727
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335
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 benign
Transcript: ENSMUST00000195717
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335
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: 93.5%
- 3x: 91.1%
- 10x: 86.1%
- 20x: 75.5%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
A |
G |
11: 7,117,133 (GRCm39) |
N1000S |
probably damaging |
Het |
Adgrb1 |
A |
G |
15: 74,413,508 (GRCm39) |
D564G |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,207,390 (GRCm39) |
E12G |
probably benign |
Het |
Arid1a |
C |
T |
4: 133,409,227 (GRCm39) |
S1375N |
unknown |
Het |
Atp1a2 |
G |
A |
1: 172,106,941 (GRCm39) |
A793V |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,701,251 (GRCm39) |
Y369C |
probably benign |
Het |
Catsperg2 |
A |
G |
7: 29,409,586 (GRCm39) |
Y536H |
possibly damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,470 (GRCm39) |
Y445H |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,277,842 (GRCm39) |
I977V |
probably benign |
Het |
Chek2 |
A |
G |
5: 111,011,195 (GRCm39) |
Y331C |
probably damaging |
Het |
Chst13 |
A |
T |
6: 90,286,167 (GRCm39) |
I265K |
probably benign |
Het |
Coil |
T |
C |
11: 88,872,437 (GRCm39) |
M266T |
probably benign |
Het |
Col16a1 |
T |
A |
4: 129,945,456 (GRCm39) |
C28S |
unknown |
Het |
Col3a1 |
T |
C |
1: 45,374,943 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 15,956,023 (GRCm39) |
V3395M |
probably benign |
Het |
Cyp51 |
A |
G |
5: 4,151,200 (GRCm39) |
V143A |
probably damaging |
Het |
Eif2ak1 |
C |
T |
5: 143,836,027 (GRCm39) |
Q573* |
probably null |
Het |
Eif2ak4 |
T |
A |
2: 118,292,808 (GRCm39) |
I1344N |
probably damaging |
Het |
Fhip1a |
G |
A |
3: 85,579,779 (GRCm39) |
Q809* |
probably null |
Het |
Gen1 |
A |
G |
12: 11,291,509 (GRCm39) |
V825A |
probably benign |
Het |
Gm28042 |
A |
T |
2: 119,870,148 (GRCm39) |
K696* |
probably null |
Het |
Gm4952 |
A |
G |
19: 12,602,048 (GRCm39) |
Y152C |
probably benign |
Het |
Hdac3 |
G |
A |
18: 38,074,817 (GRCm39) |
T308I |
probably damaging |
Het |
Hpx |
T |
C |
7: 105,241,341 (GRCm39) |
T357A |
probably benign |
Het |
Hscb |
A |
T |
5: 110,983,851 (GRCm39) |
Y139N |
probably damaging |
Het |
Kcnk9 |
T |
A |
15: 72,384,332 (GRCm39) |
H282L |
probably benign |
Het |
Kdm2b |
G |
A |
5: 123,079,110 (GRCm39) |
T287M |
probably damaging |
Het |
Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,520,664 (GRCm39) |
N1815K |
probably benign |
Het |
Ktn1 |
C |
T |
14: 47,923,774 (GRCm39) |
T511M |
probably damaging |
Het |
Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
Lrrc43 |
T |
C |
5: 123,630,530 (GRCm39) |
V131A |
possibly damaging |
Het |
Man1b1 |
T |
A |
2: 25,233,282 (GRCm39) |
H218Q |
probably damaging |
Het |
Mapk8ip2 |
T |
A |
15: 89,344,900 (GRCm39) |
C766S |
probably damaging |
Het |
Mfn1 |
A |
G |
3: 32,615,695 (GRCm39) |
N353D |
probably benign |
Het |
Mtcl1 |
A |
T |
17: 66,692,907 (GRCm39) |
L474Q |
possibly damaging |
Het |
Mtr |
T |
A |
13: 12,212,871 (GRCm39) |
R915* |
probably null |
Het |
Myh6 |
C |
A |
14: 55,187,581 (GRCm39) |
V1263L |
probably benign |
Het |
Nt5m |
C |
A |
11: 59,765,415 (GRCm39) |
L148M |
probably benign |
Het |
Or4a67 |
A |
G |
2: 88,597,921 (GRCm39) |
V246A |
possibly damaging |
Het |
Or51t4 |
A |
T |
7: 102,597,921 (GRCm39) |
D83V |
probably damaging |
Het |
Or8k21 |
T |
C |
2: 86,145,142 (GRCm39) |
I163V |
possibly damaging |
Het |
Pbrm1 |
T |
A |
14: 30,789,818 (GRCm39) |
F811I |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,256,069 (GRCm39) |
S724P |
probably damaging |
Het |
Pfdn5 |
C |
A |
15: 102,237,158 (GRCm39) |
D98E |
probably benign |
Het |
Ptprs |
G |
A |
17: 56,721,980 (GRCm39) |
P1715S |
probably damaging |
Het |
Rtkn2 |
T |
A |
10: 67,823,291 (GRCm39) |
L65Q |
probably damaging |
Het |
Scn2a |
G |
A |
2: 65,518,763 (GRCm39) |
R379H |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,363,636 (GRCm39) |
D501E |
possibly damaging |
Het |
Spn |
C |
A |
7: 126,735,611 (GRCm39) |
G299W |
probably damaging |
Het |
St6galnac1 |
T |
C |
11: 116,660,175 (GRCm39) |
N46S |
probably benign |
Het |
Stx19 |
A |
G |
16: 62,642,871 (GRCm39) |
D229G |
probably benign |
Het |
Tmc6 |
A |
T |
11: 117,663,556 (GRCm39) |
M552K |
possibly damaging |
Het |
Tnpo3 |
G |
C |
6: 29,555,221 (GRCm39) |
D787E |
possibly damaging |
Het |
Tyw5 |
T |
C |
1: 57,427,674 (GRCm39) |
Y310C |
probably damaging |
Het |
Vmn2r15 |
A |
G |
5: 109,434,871 (GRCm39) |
F611S |
probably damaging |
Het |
Vmn2r49 |
C |
T |
7: 9,722,988 (GRCm39) |
M95I |
probably benign |
Het |
Wfdc8 |
A |
G |
2: 164,445,223 (GRCm39) |
S131P |
probably benign |
Het |
Zfp407 |
A |
T |
18: 84,450,545 (GRCm39) |
M1597K |
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 |
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 |
|
|
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'- CTGTTGAACTCTGAATCATACTGC -3'
(R):5'- ATTATATGGGCAGCCGTCC -3'
Sequencing Primer
(F):5'- ACTCTGAATCATACTGCAATCTTATC -3'
(R):5'- TCCTGGTGGGGAGACGC -3'
|
Posted On |
2019-06-07 |