Incidental Mutation 'R6253:Cep170'
ID |
506306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
044370-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R6253 (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 T
at 176607960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 165
(D165E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192961]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057037
AA Change: D165E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: D165E
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 |
possibly damaging
Transcript: ENSMUST00000192961
AA Change: D165E
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142271 Gene: ENSMUSG00000057335 AA Change: D165E
Domain | Start | End | E-Value | Type |
FHA
|
22 |
73 |
1.27e-7 |
SMART |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193098
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194371
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194727
AA Change: D165E
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: D165E
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: D165E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: D165E
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
G |
2: 19,528,929 (GRCm39) |
Y151H |
possibly damaging |
Het |
Aasdh |
A |
G |
5: 77,034,105 (GRCm39) |
I482T |
possibly damaging |
Het |
Abca3 |
G |
A |
17: 24,616,526 (GRCm39) |
M989I |
probably benign |
Het |
Acvr2b |
C |
T |
9: 119,257,627 (GRCm39) |
P220L |
probably damaging |
Het |
Aqr |
T |
C |
2: 113,986,758 (GRCm39) |
D204G |
possibly damaging |
Het |
Arpp19 |
G |
T |
9: 74,964,016 (GRCm39) |
D123Y |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,983,881 (GRCm39) |
I554T |
probably damaging |
Het |
Bpifa5 |
A |
G |
2: 154,005,420 (GRCm39) |
M1V |
probably null |
Het |
Cdh3 |
T |
A |
8: 107,263,695 (GRCm39) |
|
probably null |
Het |
Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
Cog3 |
A |
G |
14: 75,957,152 (GRCm39) |
L627P |
probably damaging |
Het |
Col23a1 |
C |
T |
11: 51,464,995 (GRCm39) |
L453F |
probably damaging |
Het |
Cyp2a22 |
T |
A |
7: 26,633,657 (GRCm39) |
Q351L |
probably benign |
Het |
Ddx4 |
T |
G |
13: 112,772,557 (GRCm39) |
K77N |
probably benign |
Het |
Ddx4 |
C |
A |
13: 112,772,556 (GRCm39) |
E78* |
probably null |
Het |
Decr1 |
A |
T |
4: 15,931,179 (GRCm39) |
N92K |
probably benign |
Het |
Dnm2 |
T |
C |
9: 21,411,571 (GRCm39) |
L600P |
probably damaging |
Het |
Ece2 |
A |
C |
16: 20,457,932 (GRCm39) |
N356H |
probably damaging |
Het |
Ern1 |
A |
T |
11: 106,317,734 (GRCm39) |
I130N |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,187,097 (GRCm39) |
R1250C |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,005,505 (GRCm39) |
V1968D |
probably damaging |
Het |
Frmd6 |
A |
G |
12: 70,923,987 (GRCm39) |
K82E |
probably damaging |
Het |
Gm5431 |
A |
G |
11: 48,785,826 (GRCm39) |
V183A |
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,735,984 (GRCm39) |
S1744P |
possibly damaging |
Het |
Hnrnpa3 |
C |
G |
2: 75,492,914 (GRCm39) |
Q213E |
possibly damaging |
Het |
Hspa1a |
A |
G |
17: 35,189,526 (GRCm39) |
F459S |
probably damaging |
Het |
Ice1 |
A |
G |
13: 70,751,283 (GRCm39) |
L1601P |
probably damaging |
Het |
Igkv19-93 |
T |
A |
6: 68,713,323 (GRCm39) |
D102V |
probably damaging |
Het |
Kansl1 |
G |
A |
11: 104,248,352 (GRCm39) |
T534I |
probably benign |
Het |
Lpin2 |
T |
A |
17: 71,538,264 (GRCm39) |
S303R |
probably damaging |
Het |
Lrpprc |
T |
A |
17: 85,048,065 (GRCm39) |
I845F |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,749,593 (GRCm39) |
T4259A |
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,863,339 (GRCm39) |
S1197G |
probably benign |
Het |
Mtss1 |
A |
G |
15: 58,815,568 (GRCm39) |
I664T |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,192,793 (GRCm39) |
E1528G |
probably benign |
Het |
Myo5c |
A |
T |
9: 75,152,319 (GRCm39) |
E69V |
probably damaging |
Het |
Myom3 |
A |
T |
4: 135,513,203 (GRCm39) |
D627V |
probably benign |
Het |
Myom3 |
A |
G |
4: 135,528,314 (GRCm39) |
N1053S |
probably benign |
Het |
Or10a4 |
G |
A |
7: 106,697,464 (GRCm39) |
R264H |
possibly damaging |
Het |
Or2d2b |
A |
T |
7: 106,705,145 (GRCm39) |
S308T |
probably benign |
Het |
Or6z3 |
T |
C |
7: 6,463,547 (GRCm39) |
V13A |
probably benign |
Het |
Phactr1 |
T |
A |
13: 43,248,247 (GRCm39) |
S399T |
probably benign |
Het |
Plch2 |
T |
A |
4: 155,091,558 (GRCm39) |
Y84F |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,802,160 (GRCm39) |
S278P |
probably benign |
Het |
Prol1 |
A |
G |
5: 88,475,736 (GRCm39) |
Y42C |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,798,205 (GRCm39) |
E906G |
probably damaging |
Het |
Pwwp3a |
T |
A |
10: 80,068,848 (GRCm39) |
C331S |
probably benign |
Het |
Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
Rbp4 |
G |
A |
19: 38,113,428 (GRCm39) |
T30M |
probably benign |
Het |
Selenbp1 |
T |
C |
3: 94,851,157 (GRCm39) |
L351P |
possibly damaging |
Het |
Serpinb6b |
T |
C |
13: 33,156,255 (GRCm39) |
F115S |
probably damaging |
Het |
Tigd3 |
A |
T |
19: 5,942,870 (GRCm39) |
Y87N |
probably damaging |
Het |
Tigd5 |
T |
A |
15: 75,782,871 (GRCm39) |
L411H |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,258,272 (GRCm39) |
|
probably null |
Het |
Uhmk1 |
T |
C |
1: 170,027,449 (GRCm39) |
Q416R |
probably damaging |
Het |
Zfand4 |
T |
C |
6: 116,250,575 (GRCm39) |
F2L |
probably damaging |
Het |
Zfhx3 |
C |
T |
8: 109,682,020 (GRCm39) |
T3153M |
possibly damaging |
Het |
Zfp697 |
T |
G |
3: 98,334,855 (GRCm39) |
C207G |
possibly damaging |
Het |
Zfp935 |
T |
C |
13: 62,602,685 (GRCm39) |
T172A |
probably benign |
Het |
Znrf3 |
G |
T |
11: 5,230,865 (GRCm39) |
L883I |
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 |
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'- GAATTTGATGCCACAGCCAC -3'
(R):5'- TCAGTTATGTATCAGAGAGGGCTC -3'
Sequencing Primer
(F):5'- GCCACAGCCACTGAGGTATTTTTAC -3'
(R):5'- TGTCACACGTAGCAAGTTGC -3'
|
Posted On |
2018-03-15 |