Incidental Mutation 'R6622:Cep170'
| ID |
524487 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 176583898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 827
(Q827L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
| AlphaFold |
Q6A065 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057037
AA Change: Q827L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: Q827L
| 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 damaging
Transcript: ENSMUST00000192927
AA Change: Q62L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142032
Gene: ENSMUSG00000057335
AA Change: Q62L
| 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 |
probably damaging
Transcript: ENSMUST00000194727
AA Change: Q827L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: Q827L
| 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 |
probably damaging
Transcript: ENSMUST00000195717
AA Change: Q827L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: Q827L
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
C |
5: 81,942,606 (GRCm39) |
D1412A |
probably benign |
Het |
| Arhgap26 |
A |
G |
18: 39,032,916 (GRCm39) |
|
probably benign |
Het |
| Card14 |
A |
G |
11: 119,224,814 (GRCm39) |
M614V |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,919,961 (GRCm39) |
T509A |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,788,815 (GRCm39) |
D1136G |
probably benign |
Het |
| Clock |
A |
T |
5: 76,389,801 (GRCm39) |
I349K |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,539 (GRCm39) |
V243E |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,723,960 (GRCm39) |
F93L |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,273,706 (GRCm39) |
A2563D |
probably damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,992,372 (GRCm39) |
C258G |
possibly damaging |
Het |
| Cycs |
G |
A |
6: 50,543,443 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,790,990 (GRCm39) |
H280Q |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,133,619 (GRCm39) |
R79H |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,153,114 (GRCm39) |
S197G |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,446,273 (GRCm39) |
G1456E |
probably benign |
Het |
| Dst |
G |
A |
1: 34,218,332 (GRCm39) |
V1591I |
probably benign |
Het |
| Epha5 |
A |
G |
5: 84,385,387 (GRCm39) |
S315P |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,873 (GRCm39) |
T1012A |
probably benign |
Het |
| Fxr2 |
G |
A |
11: 69,532,416 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
T |
A |
9: 58,765,010 (GRCm39) |
V534E |
unknown |
Het |
| Hrh4 |
A |
G |
18: 13,155,454 (GRCm39) |
Y331C |
probably damaging |
Het |
| Insyn1 |
A |
G |
9: 58,406,533 (GRCm39) |
I148V |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,554,362 (GRCm39) |
H812L |
probably benign |
Het |
| Krt14 |
T |
A |
11: 100,094,786 (GRCm39) |
R451S |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,108 (GRCm39) |
T80A |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,307,305 (GRCm39) |
T383A |
probably damaging |
Het |
| Pcdha9 |
T |
A |
18: 37,131,707 (GRCm39) |
L259M |
possibly damaging |
Het |
| Pdgfd |
T |
C |
9: 6,293,818 (GRCm39) |
C131R |
probably damaging |
Het |
| Prrc2a |
C |
G |
17: 35,374,396 (GRCm39) |
R1418P |
probably damaging |
Het |
| Ptpra |
G |
T |
2: 30,327,589 (GRCm39) |
E114D |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,395,760 (GRCm39) |
C1157S |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,597,397 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,297,202 (GRCm39) |
V748A |
probably damaging |
Het |
| Serinc5 |
T |
A |
13: 92,825,194 (GRCm39) |
S208T |
probably benign |
Het |
| Sftpb |
A |
G |
6: 72,282,639 (GRCm39) |
I74V |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 118,999,643 (GRCm39) |
I516S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,951,704 (GRCm39) |
C411Y |
possibly damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,111 (GRCm39) |
L340F |
probably damaging |
Het |
| Tent5a |
G |
T |
9: 85,208,509 (GRCm39) |
R105S |
probably damaging |
Het |
| Tet3 |
G |
A |
6: 83,380,426 (GRCm39) |
P581S |
probably benign |
Het |
| Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,763,385 (GRCm39) |
W296R |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,890,343 (GRCm39) |
L982H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,550,862 (GRCm39) |
R23183I |
possibly damaging |
Het |
| Tuft1 |
T |
A |
3: 94,542,726 (GRCm39) |
Y46F |
probably damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,205,014 (GRCm39) |
M1L |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,319,646 (GRCm39) |
R292G |
possibly damaging |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
| Zp2 |
C |
T |
7: 119,741,136 (GRCm39) |
M129I |
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 |
|
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 |
|
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'- TCAAGGTTGTGTCCATGCTAG -3'
(R):5'- CCAGTGGACTCCTACTAAGTTTC -3'
Sequencing Primer
(F):5'- CAAGGTTGTGTCCATGCTAGAATCAG -3'
(R):5'- TAAATGTAGGGAGGAATCTTCTAAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation