Incidental Mutation 'R5007:Cep170'
ID |
390187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
042598-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R5007 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 176597380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 388
(R388S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057037
AA Change: R388S
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: R388S
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: ENSMUST00000083639
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193098
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194371
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194727
AA Change: R388S
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: R388S
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: R388S
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: R388S
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 |
|
Meta Mutation Damage Score |
0.0979 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.6%
|
Validation Efficiency |
99% (89/90) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
Abca8b |
T |
C |
11: 109,827,590 (GRCm39) |
T1473A |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,217,393 (GRCm39) |
Y134C |
probably damaging |
Het |
Alg9 |
T |
A |
9: 50,699,524 (GRCm39) |
M183K |
probably damaging |
Het |
Ambra1 |
T |
C |
2: 91,602,655 (GRCm39) |
I213T |
possibly damaging |
Het |
Ankrd55 |
T |
A |
13: 112,504,466 (GRCm39) |
V376D |
probably benign |
Het |
Ano4 |
A |
C |
10: 88,948,807 (GRCm39) |
V166G |
probably benign |
Het |
Aox3 |
T |
A |
1: 58,202,583 (GRCm39) |
C730S |
probably benign |
Het |
Apc |
T |
A |
18: 34,446,016 (GRCm39) |
Y953N |
probably damaging |
Het |
Ass1 |
T |
C |
2: 31,391,544 (GRCm39) |
F273S |
possibly damaging |
Het |
Atg2b |
T |
C |
12: 105,610,135 (GRCm39) |
|
probably null |
Het |
B3gnt9 |
A |
G |
8: 105,981,122 (GRCm39) |
Y89H |
probably damaging |
Het |
Cd38 |
T |
G |
5: 44,063,506 (GRCm39) |
F200V |
probably damaging |
Het |
Col22a1 |
A |
T |
15: 71,816,271 (GRCm39) |
D614E |
probably damaging |
Het |
Crybg3 |
C |
A |
16: 59,378,463 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
A |
T |
18: 80,463,695 (GRCm39) |
S114T |
probably damaging |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,172,439 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,362,283 (GRCm39) |
V3715M |
probably damaging |
Het |
Dok1 |
A |
T |
6: 83,009,297 (GRCm39) |
L185H |
probably damaging |
Het |
Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
Eif2ak1 |
G |
T |
5: 143,810,698 (GRCm39) |
R136L |
probably benign |
Het |
Eml5 |
A |
T |
12: 98,797,224 (GRCm39) |
S1063T |
probably damaging |
Het |
Fam171b |
T |
A |
2: 83,685,853 (GRCm39) |
L179* |
probably null |
Het |
Flot1 |
G |
T |
17: 36,135,267 (GRCm39) |
|
probably benign |
Het |
Fmn2 |
A |
T |
1: 174,571,866 (GRCm39) |
H1491L |
probably damaging |
Het |
Frem1 |
C |
T |
4: 82,859,049 (GRCm39) |
|
probably benign |
Het |
Gdf2 |
A |
G |
14: 33,666,863 (GRCm39) |
D195G |
probably benign |
Het |
Golga4 |
T |
G |
9: 118,387,368 (GRCm39) |
C1497G |
probably benign |
Het |
Gpaa1 |
T |
A |
15: 76,215,868 (GRCm39) |
C33* |
probably null |
Het |
Hectd1 |
A |
T |
12: 51,849,443 (GRCm39) |
C254S |
possibly damaging |
Het |
Hspa1b |
C |
T |
17: 35,177,086 (GRCm39) |
A300T |
probably benign |
Het |
Igf2bp2 |
A |
G |
16: 21,898,246 (GRCm39) |
I233T |
probably damaging |
Het |
Iqce |
C |
A |
5: 140,661,003 (GRCm39) |
A491S |
possibly damaging |
Het |
Irak3 |
A |
G |
10: 119,982,334 (GRCm39) |
|
probably null |
Het |
Kcnip1 |
T |
A |
11: 33,592,495 (GRCm39) |
H124L |
probably benign |
Het |
Klhdc10 |
G |
A |
6: 30,450,640 (GRCm39) |
R393Q |
probably benign |
Het |
Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,452,448 (GRCm39) |
V288A |
possibly damaging |
Het |
Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
Meltf |
A |
G |
16: 31,706,380 (GRCm39) |
D288G |
possibly damaging |
Het |
Mgat4e |
T |
A |
1: 134,468,890 (GRCm39) |
I385F |
probably benign |
Het |
Mical3 |
A |
C |
6: 121,015,030 (GRCm39) |
V211G |
probably damaging |
Het |
Mlh1 |
A |
G |
9: 111,100,478 (GRCm39) |
*39R |
probably null |
Het |
Mre11a |
A |
G |
9: 14,721,116 (GRCm39) |
D345G |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Nat1 |
T |
G |
8: 67,944,077 (GRCm39) |
L154R |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,161,905 (GRCm39) |
D851G |
probably damaging |
Het |
Npas4 |
A |
C |
19: 5,039,684 (GRCm39) |
V54G |
possibly damaging |
Het |
Or13n4 |
T |
C |
7: 106,423,364 (GRCm39) |
Y123C |
probably damaging |
Het |
Pcbp4 |
G |
A |
9: 106,339,292 (GRCm39) |
G100R |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,737 (GRCm39) |
T1072A |
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,708,906 (GRCm39) |
N803S |
probably benign |
Het |
Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
Ppm1l |
T |
A |
3: 69,224,931 (GRCm39) |
L11Q |
probably damaging |
Het |
Pram1 |
T |
A |
17: 33,864,411 (GRCm39) |
V658E |
probably damaging |
Het |
Prr12 |
C |
T |
7: 44,699,225 (GRCm39) |
|
probably benign |
Het |
Prxl2b |
A |
G |
4: 154,981,531 (GRCm39) |
|
probably null |
Het |
Ptprq |
A |
G |
10: 107,444,137 (GRCm39) |
V1489A |
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,768,540 (GRCm39) |
I2817F |
probably damaging |
Het |
Sall2 |
A |
G |
14: 52,551,950 (GRCm39) |
L413P |
probably damaging |
Het |
Slc7a9 |
T |
A |
7: 35,153,554 (GRCm39) |
M185K |
probably benign |
Het |
Stag2 |
C |
T |
X: 41,355,130 (GRCm39) |
H1149Y |
possibly damaging |
Het |
Timm10b |
T |
A |
7: 105,290,298 (GRCm39) |
Y64N |
probably damaging |
Het |
Tmem30c |
T |
C |
16: 57,086,868 (GRCm39) |
T312A |
probably benign |
Het |
Tmem9b |
G |
T |
7: 109,344,550 (GRCm39) |
C17* |
probably null |
Het |
Vmn2r68 |
C |
A |
7: 84,881,622 (GRCm39) |
R486L |
probably benign |
Het |
Xkr9 |
T |
A |
1: 13,771,387 (GRCm39) |
I301N |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,925,704 (GRCm39) |
Q446R |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,259,362 (GRCm39) |
V503A |
possibly damaging |
Het |
Zfp280b |
T |
A |
10: 75,875,048 (GRCm39) |
V309D |
probably damaging |
Het |
Zfp53 |
T |
A |
17: 21,729,772 (GRCm39) |
C602S |
probably benign |
Het |
Zfp616 |
A |
T |
11: 73,974,643 (GRCm39) |
N395I |
possibly damaging |
Het |
Zfp644 |
T |
C |
5: 106,783,867 (GRCm39) |
I862M |
probably benign |
Het |
Zfp715 |
T |
C |
7: 42,949,019 (GRCm39) |
T314A |
possibly 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 |
|
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 |
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'- TCCTGACATAAGATGCCTGAAC -3'
(R):5'- ATGCAGAACCTGTTACACTAAAGG -3'
Sequencing Primer
(F):5'- CTGACATAAGATGCCTGAACTTTGAG -3'
(R):5'- GGACATACAACTCTGTCTTAGAAAGG -3'
|
Posted On |
2016-06-06 |