Incidental Mutation 'R1570:Cep170'
ID |
177159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
039609-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R1570 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 176583367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1004
(I1004T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057037
AA Change: I1004T
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: I1004T
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 benign
Transcript: ENSMUST00000192927
AA Change: I239T
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000142032 Gene: ENSMUSG00000057335 AA Change: I239T
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 |
possibly damaging
Transcript: ENSMUST00000194727
AA Change: I1004T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: I1004T
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 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: I1004T
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: I1004T
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
|
Meta Mutation Damage Score |
0.0850 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
Validation Efficiency |
93% (77/83) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apobec1 |
A |
G |
6: 122,568,044 (GRCm39) |
|
probably null |
Het |
Arhgap21 |
G |
T |
2: 20,885,651 (GRCm39) |
Q348K |
probably benign |
Het |
Arl5c |
A |
G |
11: 97,883,213 (GRCm39) |
V129A |
probably benign |
Het |
Armh1 |
A |
G |
4: 117,087,189 (GRCm39) |
S159P |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,034,309 (GRCm39) |
L82P |
probably damaging |
Het |
Bahcc1 |
G |
A |
11: 120,163,009 (GRCm39) |
A436T |
possibly damaging |
Het |
Btc |
T |
C |
5: 91,550,576 (GRCm39) |
D2G |
unknown |
Het |
C1s2 |
G |
A |
6: 124,602,723 (GRCm39) |
T490M |
probably benign |
Het |
Caap1 |
C |
T |
4: 94,444,814 (GRCm39) |
G43D |
probably benign |
Het |
Ccr5 |
T |
C |
9: 123,925,000 (GRCm39) |
V201A |
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdhr5 |
C |
A |
7: 140,851,682 (GRCm39) |
G541C |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,763,170 (GRCm39) |
M2332L |
probably benign |
Het |
Clk1 |
T |
A |
1: 58,453,584 (GRCm39) |
H334L |
probably benign |
Het |
Cyp4b1 |
G |
A |
4: 115,493,160 (GRCm39) |
S228F |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,003,156 (GRCm39) |
N883D |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,176,926 (GRCm39) |
L11P |
probably benign |
Het |
Ephx4 |
A |
G |
5: 107,567,717 (GRCm39) |
E225G |
probably damaging |
Het |
Erich6 |
C |
T |
3: 58,538,080 (GRCm39) |
|
probably null |
Het |
Espl1 |
A |
G |
15: 102,206,802 (GRCm39) |
T89A |
probably damaging |
Het |
Evi2 |
T |
A |
11: 79,407,076 (GRCm39) |
K166N |
possibly damaging |
Het |
Glrx5 |
A |
G |
12: 104,999,127 (GRCm39) |
T57A |
possibly damaging |
Het |
Gnptab |
T |
A |
10: 88,255,316 (GRCm39) |
V222E |
probably damaging |
Het |
Gpr155 |
T |
C |
2: 73,200,382 (GRCm39) |
Y375C |
possibly damaging |
Het |
Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
Ildr2 |
T |
C |
1: 166,131,154 (GRCm39) |
F337L |
probably damaging |
Het |
Ino80 |
C |
T |
2: 119,277,509 (GRCm39) |
R322Q |
possibly damaging |
Het |
Lcp2 |
A |
G |
11: 34,039,601 (GRCm39) |
D467G |
probably benign |
Het |
Lmbr1 |
A |
G |
5: 29,459,556 (GRCm39) |
I229T |
probably damaging |
Het |
Lnpep |
A |
T |
17: 17,799,418 (GRCm39) |
M79K |
probably damaging |
Het |
Lpin1 |
T |
C |
12: 16,610,999 (GRCm39) |
Q564R |
possibly damaging |
Het |
Lpin2 |
T |
A |
17: 71,552,176 (GRCm39) |
L794* |
probably null |
Het |
Lrrc37 |
A |
G |
11: 103,500,764 (GRCm39) |
Y597H |
possibly damaging |
Het |
Lrrc45 |
T |
C |
11: 120,610,935 (GRCm39) |
|
probably null |
Het |
Mtus1 |
A |
G |
8: 41,529,278 (GRCm39) |
S751P |
probably damaging |
Het |
Nbr1 |
T |
C |
11: 101,455,656 (GRCm39) |
|
probably benign |
Het |
Nup107 |
A |
G |
10: 117,599,749 (GRCm39) |
F592S |
possibly damaging |
Het |
Nup133 |
T |
A |
8: 124,675,915 (GRCm39) |
M1L |
possibly damaging |
Het |
Or2a20 |
T |
C |
6: 43,194,285 (GRCm39) |
V146A |
probably benign |
Het |
Or3a10 |
A |
C |
11: 73,935,633 (GRCm39) |
F156V |
possibly damaging |
Het |
Or4n4 |
T |
G |
14: 50,518,981 (GRCm39) |
H243P |
probably damaging |
Het |
Or4p8 |
A |
C |
2: 88,727,290 (GRCm39) |
I217S |
probably damaging |
Het |
Or52b4i |
C |
A |
7: 102,191,177 (GRCm39) |
H11Q |
probably damaging |
Het |
Or8i2 |
A |
T |
2: 86,852,616 (GRCm39) |
S91T |
probably benign |
Het |
Otud7b |
T |
C |
3: 96,063,208 (GRCm39) |
C816R |
probably damaging |
Het |
Pi4k2a |
T |
C |
19: 42,089,083 (GRCm39) |
V148A |
probably benign |
Het |
Pih1d2 |
T |
C |
9: 50,532,479 (GRCm39) |
M195T |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,826,060 (GRCm39) |
E311G |
probably benign |
Het |
Plpp6 |
T |
C |
19: 28,942,178 (GRCm39) |
F260L |
probably damaging |
Het |
R3hcc1l |
A |
T |
19: 42,570,393 (GRCm39) |
T663S |
probably damaging |
Het |
Rnf25 |
T |
C |
1: 74,634,426 (GRCm39) |
E199G |
probably damaging |
Het |
Scin |
G |
A |
12: 40,134,380 (GRCm39) |
|
probably benign |
Het |
Serpinb1c |
A |
T |
13: 33,080,973 (GRCm39) |
S37T |
probably benign |
Het |
Snx19 |
A |
G |
9: 30,339,639 (GRCm39) |
D259G |
probably damaging |
Het |
Sorcs3 |
A |
G |
19: 48,752,620 (GRCm39) |
K805R |
probably damaging |
Het |
Sox6 |
C |
A |
7: 115,376,358 (GRCm39) |
G125W |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,100,174 (GRCm39) |
I64V |
probably benign |
Het |
Spmip10 |
T |
A |
18: 56,727,606 (GRCm39) |
D101E |
probably benign |
Het |
St6galnac1 |
A |
G |
11: 116,657,474 (GRCm39) |
|
probably benign |
Het |
Sult1c2 |
T |
C |
17: 54,143,991 (GRCm39) |
I105V |
probably benign |
Het |
Tacr3 |
T |
G |
3: 134,535,517 (GRCm39) |
S162A |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,721,549 (GRCm39) |
S1013P |
probably damaging |
Het |
Zbtb11 |
C |
A |
16: 55,811,178 (GRCm39) |
N445K |
probably benign |
Het |
Zfp423 |
A |
C |
8: 88,509,186 (GRCm39) |
V261G |
probably benign |
Het |
Zfp59 |
T |
C |
7: 27,553,016 (GRCm39) |
V156A |
probably benign |
Het |
Zscan2 |
C |
A |
7: 80,513,141 (GRCm39) |
A42E |
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 |
|
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'- TGTCAGCATCAGCAAGTTCACTGTC -3'
(R):5'- CACGCAAAAGCGGAAGAGTTTCAC -3'
Sequencing Primer
(F):5'- TCAGCAAGTTCACTGTCAGAAG -3'
(R):5'- AGCGGAAGAGTTTCACTAGTCTC -3'
|
Posted On |
2014-04-24 |