Incidental Mutation 'IGL03201:Cep170'
| ID |
412962 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep170
|
| Ensembl Gene |
ENSMUSG00000057335 |
| Gene Name |
centrosomal protein 170 |
| Synonyms |
A330004A13Rik, 4933426L22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.740)
|
| Stock # |
IGL03201
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 176564454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 1464
(S1464F)
|
| 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: S1464F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: S1464F
| 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 |
unknown
Transcript: ENSMUST00000192664
AA Change: S268F
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192927
AA Change: S673F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142032
Gene: ENSMUSG00000057335
AA Change: S673F
| 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: S231F
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194489
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194727
AA Change: S1474F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: S1474F
| 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: S1464F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: S1464F
| 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: 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,468 (GRCm39) |
E105G |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,445,429 (GRCm39) |
D757G |
probably damaging |
Het |
| Arpc3 |
A |
T |
5: 122,539,781 (GRCm39) |
I45F |
probably damaging |
Het |
| C3 |
C |
A |
17: 57,529,249 (GRCm39) |
V597L |
probably damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,108,213 (GRCm39) |
N299D |
probably benign |
Het |
| Cdr1 |
T |
A |
X: 60,229,154 (GRCm39) |
Q4L |
unknown |
Het |
| Cfh |
A |
G |
1: 140,030,557 (GRCm39) |
Y826H |
probably damaging |
Het |
| Chic2 |
A |
G |
5: 75,171,954 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
C |
11: 70,509,338 (GRCm39) |
H81R |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,260,599 (GRCm39) |
I153T |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,272,300 (GRCm39) |
D699V |
unknown |
Het |
| Cul3 |
T |
G |
1: 80,259,144 (GRCm39) |
S379R |
probably damaging |
Het |
| Cyp3a11 |
T |
A |
5: 145,797,189 (GRCm39) |
I397F |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,022,906 (GRCm39) |
K1077R |
probably benign |
Het |
| Dnajc18 |
A |
G |
18: 35,813,972 (GRCm39) |
S266P |
probably benign |
Het |
| Dydc1 |
T |
G |
14: 40,800,647 (GRCm39) |
L74R |
probably damaging |
Het |
| Echdc2 |
G |
T |
4: 108,027,067 (GRCm39) |
A71S |
possibly damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,886,650 (GRCm39) |
D693V |
probably benign |
Het |
| Fscn3 |
T |
C |
6: 28,430,604 (GRCm39) |
V258A |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,869,516 (GRCm39) |
I4255N |
probably damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,382,200 (GRCm39) |
I171V |
possibly damaging |
Het |
| Ino80d |
G |
T |
1: 63,097,467 (GRCm39) |
T809K |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,220,566 (GRCm39) |
L433* |
probably null |
Het |
| Nlrp9c |
A |
T |
7: 26,084,533 (GRCm39) |
S349T |
probably benign |
Het |
| Parp11 |
T |
C |
6: 127,466,981 (GRCm39) |
I124T |
possibly damaging |
Het |
| Parp8 |
A |
T |
13: 116,999,605 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
T |
C |
4: 99,827,236 (GRCm39) |
F379L |
probably damaging |
Het |
| Phf21b |
T |
C |
15: 84,671,448 (GRCm39) |
H482R |
probably benign |
Het |
| Phka1 |
A |
C |
X: 101,584,716 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
C |
12: 79,100,430 (GRCm39) |
W133R |
probably damaging |
Het |
| Polr2a |
A |
C |
11: 69,636,516 (GRCm39) |
L405* |
probably null |
Het |
| Prrg3 |
T |
A |
X: 71,010,108 (GRCm39) |
V3E |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,551,648 (GRCm39) |
K484E |
probably damaging |
Het |
| Rcbtb1 |
T |
C |
14: 59,460,727 (GRCm39) |
L230P |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Ssbp2 |
T |
C |
13: 91,672,720 (GRCm39) |
Y27H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,665,692 (GRCm39) |
V157A |
probably damaging |
Het |
| Tbx15 |
G |
A |
3: 99,259,296 (GRCm39) |
S389N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,671,424 (GRCm39) |
|
probably benign |
Het |
| Ube2n |
T |
C |
10: 95,378,127 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
G |
A |
5: 149,505,352 (GRCm39) |
|
probably null |
Het |
| Wsb2 |
T |
C |
5: 117,514,620 (GRCm39) |
S298P |
possibly damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,974,166 (GRCm39) |
|
probably null |
Het |
| Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
| Zfp747 |
G |
A |
7: 126,973,180 (GRCm39) |
T330I |
probably damaging |
Het |
| Zfp949 |
A |
G |
9: 88,450,717 (GRCm39) |
R96G |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation