Incidental Mutation 'R6476:Cep170'
ID |
516757 |
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 # |
R6476 (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 T
at 176607917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 180
(S180T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192961]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057037
AA Change: S180T
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: S180T
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 |
possibly damaging
Transcript: ENSMUST00000192961
AA Change: S180T
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142271 Gene: ENSMUSG00000057335 AA Change: S180T
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
1.27e-7 |
SMART |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193098
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194371
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194727
AA Change: S180T
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: S180T
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 |
possibly damaging
Transcript: ENSMUST00000195717
AA Change: S180T
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: S180T
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
C |
2: 154,892,699 (GRCm39) |
V126A |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,259,691 (GRCm39) |
Q336R |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,578,753 (GRCm39) |
T6A |
probably benign |
Het |
Arhgap33 |
A |
G |
7: 30,223,837 (GRCm39) |
S731P |
probably damaging |
Het |
Arhgef10l |
G |
C |
4: 140,338,693 (GRCm39) |
P23R |
probably damaging |
Het |
Atf7 |
T |
C |
15: 102,502,147 (GRCm39) |
D3G |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,011,465 (GRCm39) |
T30A |
possibly damaging |
Het |
Ccdc15 |
A |
T |
9: 37,253,715 (GRCm39) |
I191N |
probably benign |
Het |
Chd1 |
G |
A |
17: 17,601,250 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,709,534 (GRCm39) |
N1887K |
unknown |
Het |
Csgalnact1 |
C |
T |
8: 68,913,761 (GRCm39) |
S148N |
probably damaging |
Het |
Csgalnact1 |
T |
A |
8: 68,913,762 (GRCm39) |
S148C |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,572,333 (GRCm39) |
E2888G |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,281,364 (GRCm39) |
Y2808* |
probably null |
Het |
Dock10 |
A |
C |
1: 80,518,959 (GRCm39) |
L1254* |
probably null |
Het |
Eml2 |
T |
C |
7: 18,930,236 (GRCm39) |
V511A |
probably benign |
Het |
Eml6 |
A |
G |
11: 29,741,971 (GRCm39) |
|
probably null |
Het |
Erbin |
C |
A |
13: 103,977,755 (GRCm39) |
D601Y |
probably damaging |
Het |
Farsa |
A |
G |
8: 85,583,809 (GRCm39) |
E49G |
probably damaging |
Het |
Fzd7 |
A |
G |
1: 59,523,154 (GRCm39) |
M346V |
probably damaging |
Het |
Gatd3a |
T |
C |
10: 78,003,347 (GRCm39) |
N102D |
probably damaging |
Het |
Glg1 |
A |
C |
8: 111,926,806 (GRCm39) |
S170A |
possibly damaging |
Het |
Gpx3 |
A |
T |
11: 54,798,025 (GRCm39) |
I54F |
probably damaging |
Het |
H6pd |
G |
A |
4: 150,067,184 (GRCm39) |
H401Y |
probably damaging |
Het |
Hspb8 |
A |
G |
5: 116,560,457 (GRCm39) |
S28P |
probably damaging |
Het |
Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
Krt9 |
A |
T |
11: 100,081,640 (GRCm39) |
D296E |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,571,518 (GRCm39) |
T237I |
probably benign |
Het |
Lnx1 |
A |
G |
5: 74,768,541 (GRCm39) |
V349A |
possibly damaging |
Het |
Map3k6 |
A |
T |
4: 132,977,397 (GRCm39) |
S915C |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,034,717 (GRCm39) |
A510S |
possibly damaging |
Het |
Mettl14 |
A |
G |
3: 123,167,686 (GRCm39) |
I224T |
probably damaging |
Het |
Mme |
T |
C |
3: 63,251,056 (GRCm39) |
|
probably null |
Het |
Nbea |
T |
A |
3: 55,912,227 (GRCm39) |
T1187S |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,138,154 (GRCm39) |
T444A |
possibly damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,167,657 (GRCm39) |
L200P |
possibly damaging |
Het |
Npc1 |
G |
T |
18: 12,334,751 (GRCm39) |
S667* |
probably null |
Het |
Nscme3l |
A |
C |
19: 5,553,253 (GRCm39) |
I176S |
probably damaging |
Het |
Or14a256 |
C |
T |
7: 86,265,218 (GRCm39) |
V212I |
probably benign |
Het |
Or1l8 |
T |
A |
2: 36,817,595 (GRCm39) |
H177L |
possibly damaging |
Het |
Or4c109 |
T |
A |
2: 88,817,721 (GRCm39) |
D275V |
probably benign |
Het |
Or51d1 |
T |
A |
7: 102,348,310 (GRCm39) |
N288K |
possibly damaging |
Het |
Or5g9 |
T |
A |
2: 85,551,928 (GRCm39) |
Y60N |
probably damaging |
Het |
Pds5a |
A |
C |
5: 65,791,630 (GRCm39) |
I773R |
possibly damaging |
Het |
Pgr |
T |
A |
9: 8,964,839 (GRCm39) |
|
probably null |
Het |
Plscr4 |
A |
T |
9: 92,372,819 (GRCm39) |
M314L |
probably benign |
Het |
Polr2m |
A |
G |
9: 71,390,752 (GRCm39) |
V46A |
probably benign |
Het |
Ptk2b |
T |
A |
14: 66,424,923 (GRCm39) |
M174L |
possibly damaging |
Het |
Sec31a |
A |
T |
5: 100,534,008 (GRCm39) |
F521I |
probably benign |
Het |
Serpinb3d |
T |
C |
1: 107,011,071 (GRCm39) |
N47S |
probably benign |
Het |
Shld2 |
T |
C |
14: 33,989,971 (GRCm39) |
S312G |
probably benign |
Het |
Slc24a3 |
T |
A |
2: 145,448,750 (GRCm39) |
D431E |
probably benign |
Het |
Slc34a1 |
C |
A |
13: 23,996,569 (GRCm39) |
H25N |
probably damaging |
Het |
Slc9a9 |
T |
C |
9: 94,567,191 (GRCm39) |
F87L |
probably benign |
Het |
Spata31 |
T |
A |
13: 65,065,456 (GRCm39) |
S54T |
possibly damaging |
Het |
Spata6 |
T |
C |
4: 111,632,020 (GRCm39) |
S144P |
probably damaging |
Het |
Sppl2c |
A |
G |
11: 104,077,595 (GRCm39) |
N132D |
probably benign |
Het |
Ssu2 |
C |
T |
6: 112,351,793 (GRCm39) |
G311S |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,104,531 (GRCm39) |
Q6328L |
possibly damaging |
Het |
Tie1 |
T |
C |
4: 118,330,062 (GRCm39) |
T1054A |
possibly damaging |
Het |
Tnfaip6 |
T |
G |
2: 51,942,328 (GRCm39) |
D212E |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,909,166 (GRCm39) |
T1442A |
probably damaging |
Het |
Trim35 |
C |
T |
14: 66,546,244 (GRCm39) |
T337M |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,498,489 (GRCm39) |
V413A |
probably benign |
Het |
Vmn1r19 |
C |
G |
6: 57,381,578 (GRCm39) |
Q44E |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,246 (GRCm39) |
D61G |
probably benign |
Het |
Zfp266 |
G |
T |
9: 20,410,577 (GRCm39) |
H533Q |
probably damaging |
Het |
Zfp689 |
T |
C |
7: 127,043,896 (GRCm39) |
S245G |
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 |
|
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 |
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'- TGCGGGACTCATAATACACTACAATAG -3'
(R):5'- CTGTTTAAGCTCAGGCACAAATG -3'
Sequencing Primer
(F):5'- GCAAAGCCATTTTAAGAATGAAGC -3'
(R):5'- GCTACATTGCTGAAACTAGAGTGC -3'
|
Posted On |
2018-05-21 |