Incidental Mutation 'R1132:Cep170'
ID |
94671 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
039205-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R1132 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 176577603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 1257
(R1257L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195717]
[ENSMUST00000195433]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057037
AA Change: R1257L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: R1257L
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: ENSMUST00000192113
|
Predicted Effect |
unknown
Transcript: ENSMUST00000192664
AA Change: R61L
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192927
AA Change: R456L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142032 Gene: ENSMUSG00000057335 AA Change: R456L
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 |
unknown
Transcript: ENSMUST00000192991
AA Change: R41L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194489
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194727
AA Change: R1257L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: R1257L
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 damaging
Transcript: ENSMUST00000195717
AA Change: R1257L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: R1257L
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: ENSMUST00000195121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195463
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194984
|
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apba1 |
T |
C |
19: 23,894,917 (GRCm39) |
V451A |
possibly damaging |
Het |
Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
C3 |
C |
T |
17: 57,514,531 (GRCm39) |
|
probably null |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cd163 |
G |
T |
6: 124,286,055 (GRCm39) |
G202* |
probably null |
Het |
Cdk8 |
A |
G |
5: 146,236,625 (GRCm39) |
T347A |
probably benign |
Het |
Cib1 |
A |
G |
7: 79,877,778 (GRCm39) |
F168S |
probably damaging |
Het |
Cntnap5c |
G |
A |
17: 58,601,351 (GRCm39) |
G833D |
probably damaging |
Het |
Dhx37 |
A |
T |
5: 125,498,103 (GRCm39) |
I702N |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,538,227 (GRCm39) |
K3586R |
possibly damaging |
Het |
Fbxo31 |
ACGGCGCGGCG |
ACGGCGCGGCGCGGCG |
8: 122,279,015 (GRCm39) |
|
probably null |
Het |
Fbxo31 |
CGCGG |
CGCGGAGCGG |
8: 122,279,019 (GRCm39) |
|
probably null |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Gaa |
T |
C |
11: 119,175,885 (GRCm39) |
S953P |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,452,305 (GRCm39) |
E315G |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,708,464 (GRCm39) |
Y840H |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,983,743 (GRCm39) |
E653G |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,517,639 (GRCm39) |
V1829A |
possibly damaging |
Het |
Myh8 |
C |
T |
11: 67,187,957 (GRCm39) |
Q910* |
probably null |
Het |
Or12d12 |
T |
C |
17: 37,610,423 (GRCm39) |
R297G |
probably benign |
Het |
Or14a257 |
A |
T |
7: 86,138,425 (GRCm39) |
F111L |
probably benign |
Het |
Or14j4 |
G |
T |
17: 37,921,333 (GRCm39) |
T103K |
possibly damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,758 (GRCm39) |
I150N |
possibly damaging |
Het |
Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,585,788 (GRCm39) |
K331E |
possibly damaging |
Het |
Rbbp6 |
A |
G |
7: 122,599,336 (GRCm39) |
|
probably benign |
Het |
Selenbp1 |
C |
G |
3: 94,844,644 (GRCm39) |
I100M |
probably benign |
Het |
Skint6 |
A |
G |
4: 112,755,296 (GRCm39) |
|
probably null |
Het |
Stac3 |
T |
C |
10: 127,343,128 (GRCm39) |
S208P |
probably benign |
Het |
Tfap2a |
T |
C |
13: 40,874,867 (GRCm39) |
|
probably null |
Het |
Trhde |
T |
C |
10: 114,248,383 (GRCm39) |
K939E |
possibly damaging |
Het |
Vmn1r22 |
T |
C |
6: 57,877,826 (GRCm39) |
I50M |
probably benign |
Het |
Vmn1r39 |
C |
T |
6: 66,781,428 (GRCm39) |
V260I |
probably benign |
Het |
Zdhhc25 |
T |
C |
15: 88,484,926 (GRCm39) |
L87P |
probably damaging |
Het |
Zfp202 |
T |
C |
9: 40,122,318 (GRCm39) |
L360P |
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 |
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 |
|
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'- TCTTAGACAGTGGGAAGGGAACCAAA -3'
(R):5'- GTGTGAACTCTCGTGGTGATCTTGTAAT -3'
Sequencing Primer
(F):5'- tgggcagcatatacagcaag -3'
(R):5'- AAGATGGAGGCGCTTTCCTA -3'
|
Posted On |
2014-01-05 |