Incidental Mutation 'IGL03036:Cep170'
ID |
408646 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03036
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 176596903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 485
(S485P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057037
AA Change: S485P
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: S485P
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 |
noncoding transcript
Transcript: ENSMUST00000083639
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193098
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194727
AA Change: S485P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: S485P
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: S485P
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: S485P
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 |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17a |
A |
T |
10: 80,421,534 (GRCm39) |
Y145* |
probably null |
Het |
Afdn |
T |
G |
17: 14,108,350 (GRCm39) |
I1291S |
probably benign |
Het |
Arfgap3 |
T |
G |
15: 83,191,127 (GRCm39) |
I16L |
possibly damaging |
Het |
Bbs12 |
T |
A |
3: 37,373,343 (GRCm39) |
H45Q |
possibly damaging |
Het |
Brpf3 |
T |
C |
17: 29,043,022 (GRCm39) |
L1021P |
possibly damaging |
Het |
Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
Chst3 |
A |
T |
10: 60,022,261 (GRCm39) |
Y195* |
probably null |
Het |
Clmn |
T |
C |
12: 104,740,782 (GRCm39) |
Y125C |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,729,692 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
A |
T |
19: 37,002,348 (GRCm39) |
I688N |
probably damaging |
Het |
Cpn2 |
A |
T |
16: 30,079,647 (GRCm39) |
L18H |
probably benign |
Het |
Crybg3 |
T |
A |
16: 59,375,542 (GRCm39) |
H1904L |
possibly damaging |
Het |
Csde1 |
C |
T |
3: 102,951,155 (GRCm39) |
P249S |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,721,339 (GRCm39) |
L377P |
probably damaging |
Het |
Dmwd |
A |
T |
7: 18,815,054 (GRCm39) |
K568M |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,712,134 (GRCm39) |
I90T |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,680,281 (GRCm39) |
I426T |
probably damaging |
Het |
Edc4 |
G |
A |
8: 106,613,943 (GRCm39) |
|
probably null |
Het |
Elac1 |
G |
T |
18: 73,871,985 (GRCm39) |
Q337K |
probably benign |
Het |
Exd2 |
G |
T |
12: 80,536,185 (GRCm39) |
A272S |
probably damaging |
Het |
F13b |
A |
G |
1: 139,435,853 (GRCm39) |
I220V |
possibly damaging |
Het |
Fblim1 |
G |
T |
4: 141,310,435 (GRCm39) |
R276S |
possibly damaging |
Het |
Fn1 |
A |
C |
1: 71,668,932 (GRCm39) |
L671R |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,877,576 (GRCm39) |
F1334I |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,343,249 (GRCm39) |
I43F |
possibly damaging |
Het |
Hp1bp3 |
G |
A |
4: 137,956,043 (GRCm39) |
G202D |
probably damaging |
Het |
Kdm5b |
A |
G |
1: 134,536,675 (GRCm39) |
M632V |
probably damaging |
Het |
Klra5 |
T |
A |
6: 129,885,830 (GRCm39) |
S20C |
probably damaging |
Het |
Lancl1 |
A |
T |
1: 67,046,074 (GRCm39) |
C276S |
probably damaging |
Het |
Lect2 |
A |
G |
13: 56,690,520 (GRCm39) |
*152Q |
probably null |
Het |
Maff |
C |
A |
15: 79,241,658 (GRCm39) |
S25* |
probably null |
Het |
Mtr |
A |
G |
13: 12,262,263 (GRCm39) |
L171P |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,202,855 (GRCm39) |
Y236* |
probably null |
Het |
Neb |
A |
C |
2: 52,134,165 (GRCm39) |
Y3273D |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,673,333 (GRCm39) |
I66K |
probably benign |
Het |
Or4c110 |
T |
C |
2: 88,832,459 (GRCm39) |
M58V |
possibly damaging |
Het |
Psmd14 |
A |
G |
2: 61,614,205 (GRCm39) |
Y200C |
probably damaging |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Ptk2b |
T |
A |
14: 66,411,344 (GRCm39) |
|
probably benign |
Het |
Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
Rabl6 |
C |
T |
2: 25,474,868 (GRCm39) |
G614D |
probably benign |
Het |
Ripk3 |
T |
C |
14: 56,024,796 (GRCm39) |
D128G |
probably benign |
Het |
Serinc4 |
A |
T |
2: 121,270,039 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
T |
G |
6: 141,954,333 (GRCm39) |
I47L |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,235,902 (GRCm39) |
S322P |
probably benign |
Het |
Spmap2l |
A |
C |
5: 77,164,197 (GRCm39) |
K67Q |
possibly damaging |
Het |
Srebf1 |
A |
T |
11: 60,111,284 (GRCm39) |
I29N |
possibly damaging |
Het |
Stk38l |
T |
C |
6: 146,670,372 (GRCm39) |
L238S |
probably damaging |
Het |
Supt20 |
T |
A |
3: 54,616,723 (GRCm39) |
C298* |
probably null |
Het |
Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
Ulk2 |
A |
T |
11: 61,725,660 (GRCm39) |
L139M |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,235,249 (GRCm39) |
N3279S |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,596,818 (GRCm39) |
R3853G |
possibly damaging |
Het |
Usp7 |
C |
T |
16: 8,556,078 (GRCm39) |
M24I |
probably benign |
Het |
Vil1 |
A |
G |
1: 74,458,771 (GRCm39) |
T131A |
probably damaging |
Het |
Vmn2r2 |
C |
T |
3: 64,024,321 (GRCm39) |
M753I |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,601,900 (GRCm39) |
Y579* |
probably null |
Het |
Zdhhc3 |
A |
T |
9: 122,929,582 (GRCm39) |
Y18N |
probably damaging |
Het |
Zfp609 |
C |
T |
9: 65,609,927 (GRCm39) |
S1012N |
possibly damaging |
Het |
Zfr2 |
A |
T |
10: 81,077,985 (GRCm39) |
M271L |
probably benign |
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 |
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 |
|
|
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 |
|
Posted On |
2016-08-02 |