Incidental Mutation 'IGL02740:Cep170'
ID |
305842 |
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 # |
IGL02740
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 176621166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 4
(T4P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192961]
[ENSMUST00000194263]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057037
AA Change: T4P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: T4P
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: ENSMUST00000122800
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192643
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192961
AA Change: T4P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142271 Gene: ENSMUSG00000057335 AA Change: T4P
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: ENSMUST00000194263
AA Change: T4P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000141720 Gene: ENSMUSG00000057335 AA Change: T4P
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
6.1e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194727
AA Change: T4P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: T4P
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
AA Change: T4P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000142108 Gene: ENSMUSG00000057335 AA Change: T4P
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
6.1e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195717
AA Change: T4P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: T4P
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
C |
T |
1: 59,209,078 (GRCm39) |
E1494K |
probably benign |
Het |
Antxr2 |
A |
G |
5: 98,178,251 (GRCm39) |
|
probably benign |
Het |
Arhgap23 |
A |
C |
11: 97,365,843 (GRCm39) |
K998Q |
probably damaging |
Het |
Bap1 |
A |
G |
14: 30,978,729 (GRCm39) |
N47D |
possibly damaging |
Het |
Carmil1 |
A |
G |
13: 24,278,501 (GRCm39) |
I156T |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,884,953 (GRCm39) |
T563A |
probably benign |
Het |
Cct7 |
T |
C |
6: 85,445,252 (GRCm39) |
F501S |
probably benign |
Het |
Cd59b |
A |
G |
2: 103,909,242 (GRCm39) |
I8V |
probably benign |
Het |
Cep135 |
T |
C |
5: 76,786,115 (GRCm39) |
|
probably null |
Het |
Chaf1a |
G |
T |
17: 56,374,500 (GRCm39) |
G896W |
probably damaging |
Het |
Cpt1b |
A |
T |
15: 89,308,535 (GRCm39) |
L131Q |
probably damaging |
Het |
Dcaf13 |
C |
T |
15: 39,008,495 (GRCm39) |
R366* |
probably null |
Het |
Ddr2 |
A |
T |
1: 169,812,514 (GRCm39) |
N659K |
probably damaging |
Het |
Dmrt2 |
C |
A |
19: 25,655,837 (GRCm39) |
L479I |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,903,927 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
C |
T |
18: 20,660,765 (GRCm39) |
T368M |
possibly damaging |
Het |
Dspp |
C |
A |
5: 104,325,104 (GRCm39) |
S489* |
probably null |
Het |
Eed |
A |
C |
7: 89,621,464 (GRCm39) |
V112G |
possibly damaging |
Het |
Ehmt1 |
T |
A |
2: 24,705,851 (GRCm39) |
|
probably benign |
Het |
Elavl3 |
T |
C |
9: 21,947,675 (GRCm39) |
D89G |
probably benign |
Het |
Ercc5 |
T |
C |
1: 44,206,652 (GRCm39) |
S522P |
probably benign |
Het |
Esrrg |
T |
C |
1: 187,930,938 (GRCm39) |
L320P |
probably benign |
Het |
Gadl1 |
T |
A |
9: 115,835,629 (GRCm39) |
Y352* |
probably null |
Het |
Gemin5 |
G |
A |
11: 58,042,390 (GRCm39) |
A477V |
probably damaging |
Het |
Gm3086 |
A |
T |
12: 70,016,095 (GRCm39) |
|
probably benign |
Het |
Gm8082 |
C |
T |
14: 42,846,570 (GRCm39) |
|
probably benign |
Het |
Gpr180 |
T |
C |
14: 118,377,161 (GRCm39) |
L54P |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,230,585 (GRCm39) |
V512M |
probably benign |
Het |
Ighv5-4 |
A |
G |
12: 113,561,100 (GRCm39) |
S107P |
probably damaging |
Het |
Irak4 |
T |
C |
15: 94,464,925 (GRCm39) |
*460Q |
probably null |
Het |
Nfkbiz |
G |
T |
16: 55,638,317 (GRCm39) |
T381N |
probably benign |
Het |
Or1e25 |
A |
T |
11: 73,493,657 (GRCm39) |
N84Y |
probably benign |
Het |
Or5d39 |
T |
A |
2: 87,979,601 (GRCm39) |
H254L |
probably damaging |
Het |
Or8b46 |
T |
C |
9: 38,450,226 (GRCm39) |
F12L |
probably damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,585 (GRCm39) |
I126V |
probably benign |
Het |
Pou2f1 |
G |
A |
1: 165,710,685 (GRCm39) |
Q523* |
probably null |
Het |
Ptcra |
A |
G |
17: 47,069,473 (GRCm39) |
S133P |
probably damaging |
Het |
Ptgfrn |
A |
T |
3: 100,980,253 (GRCm39) |
D362E |
possibly damaging |
Het |
Rbm33 |
A |
T |
5: 28,536,121 (GRCm39) |
D19V |
probably damaging |
Het |
Rnf4 |
T |
A |
5: 34,506,898 (GRCm39) |
V74D |
possibly damaging |
Het |
Rprd1b |
A |
G |
2: 157,889,899 (GRCm39) |
D7G |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,278,305 (GRCm39) |
T659A |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,316,883 (GRCm39) |
N894D |
probably benign |
Het |
Scn1a |
G |
A |
2: 66,155,106 (GRCm39) |
R618C |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,148,421 (GRCm39) |
D1041E |
probably benign |
Het |
Slc43a1 |
G |
T |
2: 84,690,094 (GRCm39) |
A424S |
probably damaging |
Het |
Sprtn |
T |
C |
8: 125,625,042 (GRCm39) |
L49P |
probably damaging |
Het |
Sv2a |
G |
T |
3: 96,092,723 (GRCm39) |
R141L |
possibly damaging |
Het |
Thsd7b |
C |
T |
1: 129,540,864 (GRCm39) |
S246F |
probably damaging |
Het |
Tmem117 |
A |
T |
15: 94,612,863 (GRCm39) |
D133V |
probably benign |
Het |
Tnn |
A |
T |
1: 159,968,347 (GRCm39) |
|
probably benign |
Het |
Triobp |
G |
A |
15: 78,850,889 (GRCm39) |
V348I |
probably benign |
Het |
Trps1 |
A |
T |
15: 50,709,935 (GRCm39) |
D134E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,162 (GRCm39) |
I19584V |
probably benign |
Het |
Uqcrfs1 |
T |
C |
13: 30,725,006 (GRCm39) |
H178R |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,380,585 (GRCm39) |
Q2298L |
possibly damaging |
Het |
Vmn2r67 |
A |
G |
7: 84,785,818 (GRCm39) |
I729T |
probably damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,653,366 (GRCm39) |
M544L |
probably benign |
Het |
Vps41 |
T |
A |
13: 19,022,850 (GRCm39) |
L404Q |
probably damaging |
Het |
Xrcc5 |
T |
G |
1: 72,379,240 (GRCm39) |
|
probably null |
Het |
Zfp735 |
A |
G |
11: 73,601,412 (GRCm39) |
K119E |
possibly 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 |
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 |
|
|
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 |
2015-04-16 |