Incidental Mutation 'R1481:Cep170'
ID |
164347 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
039534-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R1481 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 176609951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 120
(Q120R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192961]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057037
AA Change: Q120R
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: Q120R
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: Q120R
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000142271 Gene: ENSMUSG00000057335 AA Change: Q120R
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: Q120R
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: Q120R
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 |
probably benign
Transcript: ENSMUST00000195717
AA Change: Q120R
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: Q120R
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 |
|
Meta Mutation Damage Score |
0.2348 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
100% (71/71) |
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 |
Arhgef5 |
A |
G |
6: 43,251,568 (GRCm39) |
H773R |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,062,583 (GRCm39) |
V3365A |
probably damaging |
Het |
Bmp3 |
G |
A |
5: 99,020,329 (GRCm39) |
V251M |
probably damaging |
Het |
Ccdc175 |
C |
A |
12: 72,148,722 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
C |
T |
18: 22,238,678 (GRCm39) |
G313D |
probably benign |
Het |
Cd300ld2 |
T |
A |
11: 114,903,459 (GRCm39) |
I129F |
probably benign |
Het |
Ckb |
T |
C |
12: 111,637,696 (GRCm39) |
H145R |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,045,393 (GRCm39) |
N336K |
probably damaging |
Het |
Coil |
T |
A |
11: 88,864,886 (GRCm39) |
C38S |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,183,041 (GRCm39) |
V133A |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,094 (GRCm39) |
E943G |
probably damaging |
Het |
Cyp2c54 |
C |
T |
19: 40,036,032 (GRCm39) |
D293N |
probably benign |
Het |
Cyp2f2 |
T |
C |
7: 26,821,302 (GRCm39) |
S72P |
probably benign |
Het |
Dip2c |
G |
A |
13: 9,601,902 (GRCm39) |
|
probably null |
Het |
Dock6 |
T |
C |
9: 21,731,918 (GRCm39) |
T1158A |
probably benign |
Het |
Dscaml1 |
G |
A |
9: 45,583,941 (GRCm39) |
V469I |
probably benign |
Het |
Efcab14 |
A |
G |
4: 115,613,714 (GRCm39) |
T221A |
probably benign |
Het |
Ehbp1 |
T |
C |
11: 21,956,782 (GRCm39) |
*1207W |
probably null |
Het |
Eln |
T |
C |
5: 134,735,426 (GRCm39) |
K786E |
probably damaging |
Het |
Fyb1 |
C |
T |
15: 6,649,128 (GRCm39) |
P385S |
probably benign |
Het |
Galr1 |
A |
G |
18: 82,423,866 (GRCm39) |
I137T |
possibly damaging |
Het |
Gcm1 |
A |
T |
9: 77,966,999 (GRCm39) |
K73* |
probably null |
Het |
Gemin5 |
T |
C |
11: 58,032,480 (GRCm39) |
N775D |
probably damaging |
Het |
Gli3 |
C |
T |
13: 15,788,435 (GRCm39) |
H147Y |
probably damaging |
Het |
Gm10754 |
G |
T |
10: 97,518,089 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
T |
C |
6: 25,669,137 (GRCm39) |
D569G |
probably damaging |
Het |
Grina |
T |
A |
15: 76,133,289 (GRCm39) |
Y286N |
probably damaging |
Het |
Gtf3c1 |
C |
A |
7: 125,292,310 (GRCm39) |
|
probably null |
Het |
Kcnc4 |
C |
T |
3: 107,355,534 (GRCm39) |
V305M |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,916,338 (GRCm39) |
F724L |
probably benign |
Het |
Kpnb1 |
T |
C |
11: 97,069,136 (GRCm39) |
Y249C |
probably damaging |
Het |
Krt6b |
T |
C |
15: 101,586,809 (GRCm39) |
T269A |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,097,380 (GRCm39) |
K1555E |
probably damaging |
Het |
Maneal |
T |
C |
4: 124,755,650 (GRCm39) |
Y104C |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,567,679 (GRCm39) |
T1681A |
unknown |
Het |
Mettl17 |
T |
C |
14: 52,128,160 (GRCm39) |
L272P |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,741,456 (GRCm39) |
S357C |
probably benign |
Het |
Mmp19 |
C |
A |
10: 128,634,047 (GRCm39) |
T316K |
possibly damaging |
Het |
Mroh9 |
C |
T |
1: 162,854,078 (GRCm39) |
G774E |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,096,325 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
C |
A |
5: 125,104,202 (GRCm39) |
E963* |
probably null |
Het |
Nol6 |
T |
A |
4: 41,123,596 (GRCm39) |
T51S |
probably benign |
Het |
Nsun3 |
A |
T |
16: 62,555,732 (GRCm39) |
C265S |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Nutm2 |
T |
A |
13: 50,623,517 (GRCm39) |
N71K |
probably damaging |
Het |
Or10a5 |
T |
G |
7: 106,635,356 (GRCm39) |
L5R |
probably benign |
Het |
Or5p73 |
C |
T |
7: 108,065,167 (GRCm39) |
T212I |
probably benign |
Het |
Orc3 |
T |
A |
4: 34,607,228 (GRCm39) |
E34V |
possibly damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,575,889 (GRCm39) |
L89Q |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,502,616 (GRCm39) |
V1241E |
probably null |
Het |
Prpf39 |
C |
T |
12: 65,100,088 (GRCm39) |
P135S |
probably damaging |
Het |
Psrc1 |
T |
C |
3: 108,292,309 (GRCm39) |
V34A |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,989,684 (GRCm39) |
V52M |
probably benign |
Het |
Rassf9 |
A |
G |
10: 102,381,895 (GRCm39) |
T424A |
probably benign |
Het |
Ripor3 |
G |
T |
2: 167,842,297 (GRCm39) |
R61S |
possibly damaging |
Het |
Ryr3 |
C |
T |
2: 112,466,867 (GRCm39) |
|
probably benign |
Het |
Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
Setbp1 |
C |
T |
18: 78,826,516 (GRCm39) |
V1366M |
probably benign |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Tctn2 |
T |
C |
5: 124,745,826 (GRCm39) |
|
noncoding transcript |
Het |
Tmem45a |
A |
T |
16: 56,631,965 (GRCm39) |
F218I |
possibly damaging |
Het |
Tpte |
A |
T |
8: 22,845,487 (GRCm39) |
R512S |
probably damaging |
Het |
Trim37 |
T |
A |
11: 87,020,585 (GRCm39) |
L22* |
probably null |
Het |
Ttc6 |
A |
G |
12: 57,783,916 (GRCm39) |
N1792D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,775,960 (GRCm39) |
M1694T |
probably damaging |
Het |
Vmn1r181 |
T |
A |
7: 23,684,137 (GRCm39) |
W201R |
probably damaging |
Het |
Wdr74 |
C |
T |
19: 8,715,592 (GRCm39) |
L198F |
possibly damaging |
Het |
Zfp560 |
T |
C |
9: 20,260,086 (GRCm39) |
T259A |
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 |
R1462:Cep170
|
UTSW |
1 |
176,584,211 (GRCm39) |
missense |
possibly damaging |
0.46 |
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'- ACTCTCCAGATCATGCAGACCACTT -3'
(R):5'- TCCAGGCTCAGGCTACATTCCA -3'
Sequencing Primer
(F):5'- AGTCTGTGCCTTTGGCACTT -3'
(R):5'- ttctttaccccatttcccctc -3'
|
Posted On |
2014-03-28 |