Incidental Mutation 'IGL02212:Cep170'
ID |
285530 |
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: 0.728)
|
Stock # |
IGL02212
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 176563502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 1504
(N1504I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195717]
[ENSMUST00000195433]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057037
AA Change: N1494I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: N1494I
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: N703I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142032 Gene: ENSMUSG00000057335 AA Change: N703I
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: N261I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193765
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194489
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194727
AA Change: N1504I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: N1504I
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: N1494I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: N1494I
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,079,233 (GRCm39) |
D1079V |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,127,195 (GRCm39) |
H467R |
probably benign |
Het |
Ambra1 |
T |
G |
2: 91,747,706 (GRCm39) |
D1056E |
probably damaging |
Het |
Aoah |
A |
C |
13: 21,187,071 (GRCm39) |
N456T |
probably benign |
Het |
Batf2 |
T |
A |
19: 6,221,991 (GRCm39) |
F267Y |
probably damaging |
Het |
Bbs7 |
C |
T |
3: 36,648,558 (GRCm39) |
V397I |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,723,808 (GRCm39) |
D824E |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Brip1 |
A |
T |
11: 86,029,841 (GRCm39) |
V601E |
possibly damaging |
Het |
Bub1 |
A |
G |
2: 127,647,271 (GRCm39) |
F773L |
probably damaging |
Het |
Cadps |
A |
T |
14: 12,522,345 (GRCm38) |
D606E |
possibly damaging |
Het |
Cenps |
T |
G |
4: 149,213,303 (GRCm39) |
D54A |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,382,748 (GRCm39) |
V1340A |
possibly damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,052,091 (GRCm39) |
S667T |
probably benign |
Het |
Defa38 |
C |
T |
8: 21,585,276 (GRCm39) |
|
probably benign |
Het |
Dgkb |
A |
G |
12: 38,189,413 (GRCm39) |
Y272C |
probably damaging |
Het |
Dlx3 |
A |
G |
11: 95,011,467 (GRCm39) |
D107G |
probably benign |
Het |
Drd3 |
A |
T |
16: 43,582,675 (GRCm39) |
N56I |
probably benign |
Het |
Elavl4 |
T |
A |
4: 110,063,609 (GRCm39) |
I331F |
probably damaging |
Het |
Fam167a |
T |
G |
14: 63,700,078 (GRCm39) |
S213A |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,698,729 (GRCm39) |
I2489N |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,151,957 (GRCm39) |
K587E |
probably damaging |
Het |
Fscn2 |
A |
G |
11: 120,252,881 (GRCm39) |
D116G |
probably damaging |
Het |
Galm |
T |
C |
17: 80,457,546 (GRCm39) |
V194A |
probably benign |
Het |
Gpr180 |
T |
A |
14: 118,397,588 (GRCm39) |
F361I |
probably damaging |
Het |
Gpx2 |
A |
T |
12: 76,839,682 (GRCm39) |
C105* |
probably null |
Het |
Gsdmc2 |
A |
T |
15: 63,699,911 (GRCm39) |
|
probably benign |
Het |
Hes2 |
T |
G |
4: 152,244,982 (GRCm39) |
S150R |
probably damaging |
Het |
Ighv1-56 |
C |
T |
12: 115,206,417 (GRCm39) |
|
probably benign |
Het |
Inhbb |
A |
T |
1: 119,345,713 (GRCm39) |
V192D |
probably benign |
Het |
Itgal |
A |
T |
7: 126,900,152 (GRCm39) |
M137L |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,265,382 (GRCm39) |
N470D |
probably benign |
Het |
Jph1 |
T |
C |
1: 17,161,981 (GRCm39) |
E227G |
probably damaging |
Het |
Kcnj6 |
A |
T |
16: 94,633,346 (GRCm39) |
I237N |
probably damaging |
Het |
Kctd8 |
G |
T |
5: 69,498,031 (GRCm39) |
P205Q |
probably benign |
Het |
Klhdc1 |
A |
T |
12: 69,297,540 (GRCm39) |
N37I |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,281,608 (GRCm39) |
H3921L |
probably benign |
Het |
Lrp8os2 |
T |
C |
4: 107,664,245 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
A |
C |
7: 80,012,056 (GRCm39) |
D700E |
probably benign |
Het |
Mast1 |
A |
T |
8: 85,648,026 (GRCm39) |
L485Q |
probably damaging |
Het |
Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
Mptx2 |
T |
A |
1: 173,102,248 (GRCm39) |
D147V |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,351,124 (GRCm39) |
|
probably null |
Het |
Mup21 |
T |
G |
4: 62,066,829 (GRCm39) |
E137A |
probably damaging |
Het |
Mutyh |
T |
A |
4: 116,672,803 (GRCm39) |
V52D |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,752,742 (GRCm39) |
S340C |
probably damaging |
Het |
Neb |
A |
G |
2: 52,198,323 (GRCm39) |
Y474H |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,815,626 (GRCm39) |
E560G |
possibly damaging |
Het |
Ntn4 |
A |
G |
10: 93,480,711 (GRCm39) |
D145G |
possibly damaging |
Het |
Nup93 |
G |
A |
8: 95,038,290 (GRCm39) |
|
probably null |
Het |
Or1j17 |
A |
G |
2: 36,578,194 (GRCm39) |
Y60C |
probably damaging |
Het |
Or2n1b |
C |
A |
17: 38,459,746 (GRCm39) |
T89K |
probably benign |
Het |
Or2y14 |
A |
T |
11: 49,404,737 (GRCm39) |
I91F |
probably damaging |
Het |
Or52b2 |
C |
T |
7: 104,986,350 (GRCm39) |
C191Y |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,465 (GRCm39) |
V40E |
possibly damaging |
Het |
Peg3 |
C |
T |
7: 6,714,415 (GRCm39) |
R269H |
probably benign |
Het |
Piwil1 |
T |
A |
5: 128,827,334 (GRCm39) |
F648I |
possibly damaging |
Het |
Psd4 |
A |
T |
2: 24,295,326 (GRCm39) |
K827* |
probably null |
Het |
Retsat |
T |
A |
6: 72,578,693 (GRCm39) |
L135* |
probably null |
Het |
Rtp3 |
A |
G |
9: 110,816,389 (GRCm39) |
|
probably benign |
Het |
Samd14 |
A |
G |
11: 94,914,176 (GRCm39) |
Y305C |
probably damaging |
Het |
Satb1 |
T |
A |
17: 52,082,319 (GRCm39) |
Q445L |
possibly damaging |
Het |
Shbg |
A |
G |
11: 69,508,035 (GRCm39) |
L110P |
probably damaging |
Het |
Slc17a6 |
T |
A |
7: 51,317,218 (GRCm39) |
I413N |
possibly damaging |
Het |
Slu7 |
A |
T |
11: 43,331,469 (GRCm39) |
Q201L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,938,638 (GRCm39) |
T439A |
probably benign |
Het |
Sstr5 |
A |
T |
17: 25,710,647 (GRCm39) |
L194Q |
possibly damaging |
Het |
Tjp2 |
A |
T |
19: 24,116,150 (GRCm39) |
L13Q |
probably damaging |
Het |
Tnk2 |
G |
A |
16: 32,498,960 (GRCm39) |
V758I |
probably damaging |
Het |
Ttll8 |
C |
A |
15: 88,801,450 (GRCm39) |
V413L |
probably benign |
Het |
Wiz |
T |
C |
17: 32,587,109 (GRCm39) |
D67G |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |