Incidental Mutation 'R9323:Cep170'
| ID |
706298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep170
|
| Ensembl Gene |
ENSMUSG00000057335 |
| Gene Name |
centrosomal protein 170 |
| Synonyms |
A330004A13Rik, 4933426L22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.740)
|
| Stock # |
R9323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 176586068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 575
(S575P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
| AlphaFold |
Q6A065 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057037
AA Change: S575P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: S575P
| 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 |
probably benign
Transcript: ENSMUST00000194727
AA Change: S575P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: S575P
| 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: S575P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: S575P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
G |
A |
16: 8,420,235 (GRCm39) |
W178* |
probably null |
Het |
| Alx1 |
G |
A |
10: 102,858,124 (GRCm39) |
R192* |
probably null |
Het |
| Apom |
A |
G |
17: 35,350,633 (GRCm39) |
C23R |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,162,148 (GRCm39) |
N35S |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,682,682 (GRCm39) |
Y43* |
probably null |
Het |
| Atosa |
C |
T |
9: 74,883,415 (GRCm39) |
|
probably benign |
Het |
| Bag4 |
T |
C |
8: 26,261,361 (GRCm39) |
S127G |
possibly damaging |
Het |
| Bag4 |
G |
T |
8: 26,275,180 (GRCm39) |
S7* |
probably null |
Het |
| Ccdc88b |
A |
G |
19: 6,826,475 (GRCm39) |
L1080P |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,828,401 (GRCm39) |
N285K |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,168,107 (GRCm39) |
D362E |
probably benign |
Het |
| Col4a2 |
C |
T |
8: 11,493,413 (GRCm39) |
P1374L |
possibly damaging |
Het |
| Cpt2 |
T |
C |
4: 107,761,556 (GRCm39) |
H617R |
probably benign |
Het |
| Cyp2d22 |
A |
G |
15: 82,258,207 (GRCm39) |
S138P |
probably damaging |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,619 (GRCm39) |
D359G |
probably benign |
Het |
| Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
| Dmrtc2 |
A |
T |
7: 24,572,341 (GRCm39) |
I121F |
probably benign |
Het |
| Dus1l |
C |
T |
11: 120,684,724 (GRCm39) |
R149H |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,640 (GRCm39) |
Y332N |
probably benign |
Het |
| Fbxo47 |
A |
T |
11: 97,770,254 (GRCm39) |
V46D |
probably benign |
Het |
| Grep1 |
A |
G |
17: 23,937,387 (GRCm39) |
S54P |
unknown |
Het |
| Grpel1 |
T |
A |
5: 36,628,007 (GRCm39) |
V96E |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
| Igkv4-80 |
C |
T |
6: 68,993,751 (GRCm39) |
A47T |
probably damaging |
Het |
| Il1a |
T |
A |
2: 129,149,826 (GRCm39) |
I25F |
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,811,523 (GRCm39) |
|
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,328,979 (GRCm39) |
Y131C |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
| Lancl1 |
T |
A |
1: 67,077,794 (GRCm39) |
|
probably benign |
Het |
| Lpl |
G |
A |
8: 69,340,196 (GRCm39) |
V64M |
possibly damaging |
Het |
| Marchf10 |
T |
C |
11: 105,280,581 (GRCm39) |
H568R |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,775,685 (GRCm39) |
V546M |
probably damaging |
Het |
| Mss51 |
A |
T |
14: 20,534,939 (GRCm39) |
I277N |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,360,829 (GRCm39) |
|
probably null |
Het |
| Myct1 |
A |
C |
10: 5,554,195 (GRCm39) |
I21L |
probably benign |
Het |
| Myo5c |
C |
A |
9: 75,153,531 (GRCm39) |
A139E |
probably damaging |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Npy2r |
A |
T |
3: 82,447,728 (GRCm39) |
I349N |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,378,255 (GRCm39) |
I19V |
probably benign |
Het |
| Or10g7 |
T |
C |
9: 39,905,360 (GRCm39) |
S85P |
possibly damaging |
Het |
| Or14j2 |
A |
C |
17: 37,886,135 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,220 (GRCm39) |
F104L |
possibly damaging |
Het |
| Or5p6 |
C |
T |
7: 107,631,230 (GRCm39) |
V107I |
probably benign |
Het |
| Or6c3b |
A |
T |
10: 129,527,829 (GRCm39) |
V27D |
probably benign |
Het |
| Or8d23 |
T |
C |
9: 38,841,818 (GRCm39) |
V117A |
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,551,298 (GRCm39) |
N194I |
probably damaging |
Het |
| Polg |
TCTGGATGA |
TCTGGATGACTGGATGA |
7: 79,114,779 (GRCm39) |
|
probably null |
Het |
| Polg |
GA |
GACTGGAGCA |
7: 79,114,786 (GRCm39) |
|
probably null |
Het |
| Ptpn9 |
T |
C |
9: 56,934,701 (GRCm39) |
M155T |
possibly damaging |
Het |
| Ret |
A |
G |
6: 118,158,975 (GRCm39) |
Y146H |
probably benign |
Het |
| Sdf2l1 |
T |
C |
16: 16,949,498 (GRCm39) |
H116R |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,981,596 (GRCm39) |
V514A |
probably damaging |
Het |
| Slc37a1 |
T |
C |
17: 31,552,643 (GRCm39) |
I316T |
probably damaging |
Het |
| Slc4a11 |
A |
C |
2: 130,528,830 (GRCm39) |
L473R |
possibly damaging |
Het |
| Smg7 |
A |
G |
1: 152,731,753 (GRCm39) |
M344T |
probably benign |
Het |
| Smg9 |
T |
C |
7: 24,114,465 (GRCm39) |
L268P |
probably damaging |
Het |
| Tiparp |
C |
T |
3: 65,439,272 (GRCm39) |
T196I |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
A |
T |
15: 72,565,431 (GRCm39) |
N953K |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,968,564 (GRCm39) |
V428A |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,583,170 (GRCm39) |
R2728G |
probably damaging |
Het |
| Zfp612 |
A |
G |
8: 110,815,372 (GRCm39) |
E193G |
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 |
|
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 |
|
|
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'- AGGTGGCATAGCATAGCATC -3'
(R):5'- TGTGGTTGAACGGAACAGCTAG -3'
Sequencing Primer
(F):5'- TACACATGGTCCACTAAAAGAGG -3'
(R):5'- GCTAGAGAGCCTTGATTGAAGAATC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation