Incidental Mutation 'R1462:Cep170'
ID |
158923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
039516-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R1462 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 176584211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 723
(K723E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195717]
[ENSMUST00000195433]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057037
AA Change: K723E
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: K723E
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
|
SMART Domains |
Protein: ENSMUSP00000142032 Gene: ENSMUSG00000057335
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: K723E
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: K723E
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: ENSMUST00000195717
AA Change: K723E
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: K723E
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
|
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 |
|
Meta Mutation Damage Score |
0.0756 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 92.6%
- 20x: 79.9%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
C |
A |
7: 40,642,370 (GRCm39) |
S104* |
probably null |
Het |
Abca9 |
T |
C |
11: 110,051,342 (GRCm39) |
D118G |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,984,253 (GRCm39) |
F137L |
probably benign |
Het |
Adamts3 |
T |
C |
5: 90,009,208 (GRCm39) |
I152V |
probably benign |
Het |
Adcy4 |
T |
A |
14: 56,015,765 (GRCm39) |
E441D |
possibly damaging |
Het |
Adgra1 |
T |
A |
7: 139,455,745 (GRCm39) |
Y458N |
probably damaging |
Het |
Bhlhe22 |
C |
G |
3: 18,109,946 (GRCm39) |
S332C |
probably damaging |
Het |
Card19 |
T |
A |
13: 49,358,760 (GRCm39) |
Q71L |
probably benign |
Het |
Ccdc12 |
T |
C |
9: 110,485,662 (GRCm39) |
L11P |
probably damaging |
Het |
Cdadc1 |
A |
G |
14: 59,813,307 (GRCm39) |
Y367H |
probably damaging |
Het |
Cdc5l |
G |
T |
17: 45,719,288 (GRCm39) |
Q542K |
possibly damaging |
Het |
Cep70 |
A |
G |
9: 99,145,773 (GRCm39) |
I147V |
probably benign |
Het |
Cfap58 |
A |
T |
19: 47,950,869 (GRCm39) |
H410L |
probably damaging |
Het |
Chat |
T |
C |
14: 32,142,735 (GRCm39) |
K418R |
probably damaging |
Het |
Cic |
T |
G |
7: 24,971,032 (GRCm39) |
D254E |
probably damaging |
Het |
Ckap4 |
T |
C |
10: 84,363,431 (GRCm39) |
E544G |
probably damaging |
Het |
Crnkl1 |
C |
T |
2: 145,763,739 (GRCm39) |
A500T |
probably damaging |
Het |
Cyp2c38 |
T |
C |
19: 39,380,632 (GRCm39) |
N418D |
probably damaging |
Het |
Daam1 |
A |
T |
12: 71,990,916 (GRCm39) |
I177L |
unknown |
Het |
Ercc5 |
A |
G |
1: 44,219,784 (GRCm39) |
T1019A |
probably damaging |
Het |
F13b |
T |
A |
1: 139,435,374 (GRCm39) |
V173E |
probably damaging |
Het |
Fam20a |
A |
C |
11: 109,568,143 (GRCm39) |
F316V |
probably damaging |
Het |
Flrt2 |
T |
C |
12: 95,746,112 (GRCm39) |
V150A |
probably damaging |
Het |
Fnta |
A |
C |
8: 26,489,599 (GRCm39) |
|
probably null |
Het |
Ghsr |
A |
G |
3: 27,426,025 (GRCm39) |
D27G |
probably benign |
Het |
Gtpbp1 |
A |
G |
15: 79,592,086 (GRCm39) |
N96D |
probably damaging |
Het |
H1f7 |
A |
T |
15: 98,154,454 (GRCm39) |
W232R |
unknown |
Het |
Ibtk |
A |
T |
9: 85,606,198 (GRCm39) |
I443N |
probably damaging |
Het |
Ifi207 |
T |
C |
1: 173,552,513 (GRCm39) |
H968R |
probably damaging |
Het |
Ifit2 |
A |
G |
19: 34,550,586 (GRCm39) |
D42G |
probably null |
Het |
Il17rc |
A |
T |
6: 113,455,950 (GRCm39) |
D265V |
probably damaging |
Het |
Itfg2 |
T |
C |
6: 128,401,691 (GRCm39) |
D29G |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,952,649 (GRCm39) |
H864R |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,349,547 (GRCm39) |
F295L |
probably benign |
Het |
Mrps28 |
T |
A |
3: 8,965,184 (GRCm39) |
H85L |
possibly damaging |
Het |
Mtpn |
T |
A |
6: 35,499,693 (GRCm39) |
K37M |
possibly damaging |
Het |
Mug1 |
C |
T |
6: 121,859,588 (GRCm39) |
H1196Y |
probably benign |
Het |
Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
Mybl2 |
T |
C |
2: 162,914,628 (GRCm39) |
S249P |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,436,748 (GRCm39) |
Y592H |
possibly damaging |
Het |
Nrp1 |
A |
G |
8: 129,229,279 (GRCm39) |
N919S |
probably benign |
Het |
Nudt9 |
C |
T |
5: 104,212,904 (GRCm39) |
Q326* |
probably null |
Het |
Or5w13 |
A |
T |
2: 87,523,720 (GRCm39) |
C169S |
probably damaging |
Het |
Or6c76b |
A |
G |
10: 129,693,100 (GRCm39) |
T238A |
probably damaging |
Het |
Or7g17 |
T |
A |
9: 18,768,407 (GRCm39) |
M162K |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,046,592 (GRCm39) |
I136F |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,161,815 (GRCm39) |
E142G |
probably damaging |
Het |
Pde3a |
C |
A |
6: 141,405,560 (GRCm39) |
P471T |
probably benign |
Het |
Pign |
A |
T |
1: 105,512,727 (GRCm39) |
V652E |
possibly damaging |
Het |
Prkcb |
T |
A |
7: 122,181,672 (GRCm39) |
M420K |
probably damaging |
Het |
Prr14 |
T |
A |
7: 127,073,160 (GRCm39) |
|
probably null |
Het |
Rchy1 |
T |
A |
5: 92,105,741 (GRCm39) |
Q69L |
probably damaging |
Het |
Sec23ip |
T |
G |
7: 128,367,862 (GRCm39) |
S625A |
probably benign |
Het |
Smpdl3b |
A |
G |
4: 132,473,925 (GRCm39) |
S47P |
probably damaging |
Het |
Speer4a3 |
T |
A |
5: 26,156,623 (GRCm39) |
I119F |
possibly damaging |
Het |
Stil |
G |
A |
4: 114,881,161 (GRCm39) |
M568I |
probably benign |
Het |
Syt3 |
T |
A |
7: 44,045,434 (GRCm39) |
V558E |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,231,164 (GRCm39) |
V2533A |
unknown |
Het |
Tenm4 |
A |
G |
7: 96,353,360 (GRCm39) |
Y384C |
probably damaging |
Het |
Tfam |
T |
C |
10: 71,071,380 (GRCm39) |
E94G |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,714,304 (GRCm39) |
T14A |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,409,566 (GRCm39) |
Y15* |
probably null |
Het |
Uhrf1 |
C |
T |
17: 56,625,035 (GRCm39) |
A526V |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,805,046 (GRCm39) |
D22G |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,817,660 (GRCm39) |
I412M |
possibly damaging |
Het |
Wdr17 |
A |
T |
8: 55,123,363 (GRCm39) |
I479K |
probably damaging |
Het |
Wt1 |
T |
C |
2: 104,997,176 (GRCm39) |
V371A |
probably damaging |
Het |
Zfp536 |
G |
T |
7: 37,178,735 (GRCm39) |
S226Y |
probably damaging |
Het |
Zfp827 |
T |
C |
8: 79,803,108 (GRCm39) |
V560A |
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 |
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 |
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'- GGCGCACTAACGATTTGGAAGACTC -3'
(R):5'- TCGTTCCACAGAGGTCAGAGATAGG -3'
Sequencing Primer
(F):5'- GCTCGTAGAATGTCCTGAAAC -3'
(R):5'- TCAGAGATAGGAGAAAAGCAAGACAC -3'
|
Posted On |
2014-03-14 |