Incidental Mutation 'R2426:Cep170'
ID |
250184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
040388-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.740)
|
Stock # |
R2426 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 176602201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 302
(S302P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192961]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057037
AA Change: S302P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: S302P
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 |
probably benign
Transcript: ENSMUST00000192961
|
SMART Domains |
Protein: ENSMUSP00000142271 Gene: ENSMUSG00000057335
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 |
unknown
Transcript: ENSMUST00000194371
AA Change: S109P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194727
AA Change: S302P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: S302P
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: S302P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: S302P
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
T |
7: 119,882,446 (GRCm39) |
V1203L |
probably benign |
Het |
Adamtsl1 |
G |
A |
4: 86,075,025 (GRCm39) |
V131I |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
Agbl1 |
T |
C |
7: 76,071,650 (GRCm39) |
V324A |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,980,215 (GRCm39) |
I500F |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,266 (GRCm39) |
D851G |
probably damaging |
Het |
Amot |
T |
C |
X: 144,259,287 (GRCm39) |
K460E |
probably damaging |
Het |
Arhgef3 |
G |
T |
14: 27,106,138 (GRCm39) |
E161* |
probably null |
Het |
Atg9b |
A |
T |
5: 24,591,992 (GRCm39) |
I669N |
probably damaging |
Het |
Ccdc83 |
A |
G |
7: 89,877,639 (GRCm39) |
Y268H |
probably damaging |
Het |
Cyp4a31 |
T |
A |
4: 115,428,213 (GRCm39) |
M303K |
probably damaging |
Het |
Cyp4v3 |
T |
A |
8: 45,770,813 (GRCm39) |
Y231F |
probably benign |
Het |
Defa39 |
T |
G |
8: 22,192,653 (GRCm39) |
K114N |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,791,740 (GRCm39) |
L1411Q |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,469,861 (GRCm39) |
I629N |
probably damaging |
Het |
Dst |
A |
T |
1: 34,231,893 (GRCm39) |
H2837L |
probably benign |
Het |
Fam114a2 |
G |
A |
11: 57,383,906 (GRCm39) |
P343L |
probably benign |
Het |
Fbrs |
A |
G |
7: 127,086,511 (GRCm39) |
|
probably null |
Het |
Fbxl13 |
A |
C |
5: 21,727,135 (GRCm39) |
D620E |
probably damaging |
Het |
Frmd4a |
T |
A |
2: 4,534,673 (GRCm39) |
S164T |
probably damaging |
Het |
Gdi2 |
T |
G |
13: 3,612,034 (GRCm39) |
S330A |
probably benign |
Het |
Gm5878 |
A |
T |
6: 85,095,613 (GRCm39) |
M70K |
probably benign |
Het |
H2-Q6 |
G |
T |
17: 35,643,913 (GRCm39) |
A21S |
probably benign |
Het |
Hfm1 |
A |
T |
5: 106,995,519 (GRCm39) |
|
probably null |
Het |
Hnmt |
C |
T |
2: 23,909,167 (GRCm39) |
C82Y |
probably benign |
Het |
Il1rl1 |
C |
A |
1: 40,485,779 (GRCm39) |
A310D |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,757,569 (GRCm39) |
|
probably null |
Het |
Kcne4 |
C |
A |
1: 78,795,688 (GRCm39) |
A112E |
possibly damaging |
Het |
Krt32 |
T |
C |
11: 99,977,192 (GRCm39) |
K236R |
possibly damaging |
Het |
Maml2 |
T |
C |
9: 13,617,794 (GRCm39) |
L380P |
probably damaging |
Het |
Meis1 |
A |
T |
11: 18,938,356 (GRCm39) |
D218E |
possibly damaging |
Het |
Mon1b |
G |
A |
8: 114,365,752 (GRCm39) |
G360D |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,169,216 (GRCm39) |
S383P |
probably damaging |
Het |
Neb |
A |
G |
2: 52,059,065 (GRCm39) |
|
probably null |
Het |
Nlgn2 |
A |
T |
11: 69,717,912 (GRCm39) |
I431N |
probably damaging |
Het |
Nr2e1 |
A |
G |
10: 42,439,481 (GRCm39) |
L134P |
probably damaging |
Het |
Opcml |
G |
A |
9: 28,814,663 (GRCm39) |
|
probably null |
Het |
Or2t29 |
A |
T |
11: 58,433,920 (GRCm39) |
Y127* |
probably null |
Het |
Or6c207 |
T |
C |
10: 129,105,135 (GRCm39) |
Q19R |
probably benign |
Het |
Or7c19 |
T |
C |
8: 85,957,693 (GRCm39) |
S190P |
probably damaging |
Het |
Pate2 |
A |
T |
9: 35,581,776 (GRCm39) |
|
probably null |
Het |
Pgr |
G |
A |
9: 8,900,718 (GRCm39) |
V84M |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,002 (GRCm39) |
V296D |
probably damaging |
Het |
Plcb2 |
G |
A |
2: 118,546,130 (GRCm39) |
T555M |
probably damaging |
Het |
Pld5 |
T |
G |
1: 175,791,542 (GRCm39) |
D426A |
probably benign |
Het |
Prdm2 |
G |
T |
4: 142,838,320 (GRCm39) |
C1679* |
probably null |
Het |
Psme2b |
A |
T |
11: 48,836,890 (GRCm39) |
V19D |
probably benign |
Het |
Ptpn9 |
A |
T |
9: 56,934,712 (GRCm39) |
N159Y |
possibly damaging |
Het |
Sanbr |
T |
A |
11: 23,526,801 (GRCm39) |
R190W |
probably damaging |
Het |
Sdc3 |
A |
T |
4: 130,546,114 (GRCm39) |
T64S |
unknown |
Het |
Serping1 |
T |
G |
2: 84,600,563 (GRCm39) |
S260R |
probably damaging |
Het |
Slc20a1 |
T |
C |
2: 129,050,150 (GRCm39) |
F436S |
probably benign |
Het |
Sntb1 |
A |
T |
15: 55,769,575 (GRCm39) |
I138N |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,711,364 (GRCm39) |
Y643F |
probably damaging |
Het |
Spink1 |
G |
T |
18: 43,868,287 (GRCm39) |
S23* |
probably null |
Het |
Stag1 |
T |
C |
9: 100,727,169 (GRCm39) |
|
probably null |
Het |
Tnfaip8l1 |
G |
A |
17: 56,479,030 (GRCm39) |
V107I |
probably benign |
Het |
Tnik |
A |
G |
3: 28,700,830 (GRCm39) |
S907G |
probably damaging |
Het |
Ttf1 |
T |
A |
2: 28,957,197 (GRCm39) |
M489K |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp54 |
G |
A |
14: 20,615,008 (GRCm39) |
A811V |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,344,815 (GRCm39) |
N2352S |
probably benign |
Het |
Zan |
T |
C |
5: 137,387,254 (GRCm39) |
Y4933C |
unknown |
Het |
Zbtb8a |
A |
G |
4: 129,254,012 (GRCm39) |
S161P |
probably benign |
Het |
Zkscan5 |
A |
T |
5: 145,157,750 (GRCm39) |
I751L |
probably benign |
Het |
Zscan4d |
A |
G |
7: 10,899,022 (GRCm39) |
F85S |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,806,091 (GRCm39) |
M2647V |
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 |
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 |
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'- CAGGAACATCACTTTTAATGCTCTTGG -3'
(R):5'- CATTAGGGTGCAGCACAGAG -3'
Sequencing Primer
(F):5'- ATCACTTTTAATGCTCTTGGAATCC -3'
(R):5'- GAAGAAGCACTTTTTCCCTTCTGTAG -3'
|
Posted On |
2014-11-12 |