Incidental Mutation 'R8835:Cep170'
ID |
674059 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep170
|
Ensembl Gene |
ENSMUSG00000057335 |
Gene Name |
centrosomal protein 170 |
Synonyms |
A330004A13Rik, 4933426L22Rik |
MMRRC Submission |
068663-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.728)
|
Stock # |
R8835 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 176584429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 650
(L650P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
AlphaFold |
Q6A065 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057037
AA Change: L650P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000059562 Gene: ENSMUSG00000057335 AA Change: L650P
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 benign
Transcript: ENSMUST00000192927
|
SMART Domains |
Protein: ENSMUSP00000142032 Gene: ENSMUSG00000057335
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 |
probably benign
Transcript: ENSMUST00000194727
AA Change: L650P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141793 Gene: ENSMUSG00000057335 AA Change: L650P
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: L650P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141769 Gene: ENSMUSG00000057335 AA Change: L650P
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (67/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
C |
3: 121,896,433 (GRCm39) |
G555A |
probably benign |
Het |
Afmid |
A |
G |
11: 117,718,914 (GRCm39) |
K15E |
probably benign |
Het |
Ankfn1 |
T |
C |
11: 89,429,379 (GRCm39) |
I2V |
probably benign |
Het |
Arhgap21 |
A |
T |
2: 20,972,144 (GRCm39) |
C26* |
probably null |
Het |
Arhgef38 |
A |
T |
3: 132,837,832 (GRCm39) |
D699E |
unknown |
Het |
Atxn2 |
T |
C |
5: 121,940,248 (GRCm39) |
S1008P |
possibly damaging |
Het |
C1rb |
A |
G |
6: 124,552,217 (GRCm39) |
K312E |
probably benign |
Het |
Cc2d1b |
G |
A |
4: 108,484,264 (GRCm39) |
R424Q |
probably damaging |
Het |
Ccdc27 |
G |
A |
4: 154,127,023 (GRCm39) |
T13I |
unknown |
Het |
Cdc42bpa |
G |
T |
1: 179,896,916 (GRCm39) |
V400F |
probably damaging |
Het |
Cemip |
C |
A |
7: 83,586,651 (GRCm39) |
G1301V |
probably damaging |
Het |
Cfap100 |
T |
A |
6: 90,386,597 (GRCm39) |
D222V |
|
Het |
Cog8 |
A |
T |
8: 107,773,920 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
A |
G |
1: 82,447,313 (GRCm39) |
L1279P |
unknown |
Het |
Cyyr1 |
A |
T |
16: 85,254,553 (GRCm39) |
Y116* |
probably null |
Het |
Dlgap4 |
A |
T |
2: 156,587,946 (GRCm39) |
S597C |
probably damaging |
Het |
Dpysl5 |
T |
A |
5: 30,936,282 (GRCm39) |
|
probably null |
Het |
Dtl |
G |
T |
1: 191,293,609 (GRCm39) |
H189Q |
probably damaging |
Het |
Epha1 |
A |
T |
6: 42,342,723 (GRCm39) |
N275K |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,321,874 (GRCm39) |
C110R |
|
Het |
Fhod1 |
A |
G |
8: 106,065,484 (GRCm39) |
|
probably null |
Het |
Fndc1 |
A |
C |
17: 7,958,111 (GRCm39) |
F1712C |
probably damaging |
Het |
Gcnt7 |
G |
A |
2: 172,295,957 (GRCm39) |
T289M |
probably damaging |
Het |
Gm11020 |
A |
T |
8: 105,048,293 (GRCm39) |
E32V |
probably null |
Het |
Hoxb1 |
C |
T |
11: 96,256,627 (GRCm39) |
|
probably benign |
Het |
Ibtk |
G |
A |
9: 85,619,563 (GRCm39) |
L126F |
possibly damaging |
Het |
Il17rb |
T |
G |
14: 29,722,308 (GRCm39) |
E241A |
possibly damaging |
Het |
Kdm3b |
G |
A |
18: 34,941,802 (GRCm39) |
R631Q |
probably damaging |
Het |
Lnpep |
A |
T |
17: 17,750,118 (GRCm39) |
S991T |
possibly damaging |
Het |
Mctp2 |
T |
G |
7: 71,852,161 (GRCm39) |
E455A |
probably benign |
Het |
Mgat4a |
A |
T |
1: 37,491,372 (GRCm39) |
I421N |
possibly damaging |
Het |
Myof |
C |
A |
19: 37,955,547 (GRCm39) |
V526L |
possibly damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nav2 |
G |
A |
7: 49,248,551 (GRCm39) |
G2297D |
possibly damaging |
Het |
Nipa2 |
A |
T |
7: 55,583,307 (GRCm39) |
|
probably benign |
Het |
Nkx6-1 |
G |
T |
5: 101,811,971 (GRCm39) |
P44T |
unknown |
Het |
Nploc4 |
T |
C |
11: 120,309,122 (GRCm39) |
K160R |
possibly damaging |
Het |
Olfm3 |
C |
A |
3: 114,916,061 (GRCm39) |
A331D |
probably damaging |
Het |
Or10g6 |
A |
C |
9: 39,934,171 (GRCm39) |
S161R |
possibly damaging |
Het |
Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
Or52s1 |
T |
A |
7: 102,861,928 (GRCm39) |
I287K |
probably damaging |
Het |
Otof |
T |
C |
5: 30,528,264 (GRCm39) |
N1898S |
probably benign |
Het |
Pde1a |
G |
A |
2: 79,708,522 (GRCm39) |
L299F |
probably damaging |
Het |
Pole |
T |
C |
5: 110,454,775 (GRCm39) |
Y1003H |
probably damaging |
Het |
Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
Prom1 |
T |
G |
5: 44,175,722 (GRCm39) |
Y533S |
probably damaging |
Het |
Prrt4 |
C |
A |
6: 29,169,986 (GRCm39) |
C822F |
probably damaging |
Het |
Prss12 |
A |
C |
3: 123,285,201 (GRCm39) |
D542A |
possibly damaging |
Het |
Ptrh2 |
T |
C |
11: 86,580,412 (GRCm39) |
Y10H |
probably damaging |
Het |
Pum1 |
C |
T |
4: 130,471,064 (GRCm39) |
T439M |
probably damaging |
Het |
Rarb |
A |
T |
14: 16,575,011 (GRCm38) |
F2I |
probably benign |
Het |
Rpp21 |
G |
A |
17: 36,566,678 (GRCm39) |
S127L |
probably benign |
Het |
Scgb1b19 |
T |
G |
7: 32,986,948 (GRCm39) |
V33G |
probably damaging |
Het |
Smc1b |
A |
T |
15: 85,013,949 (GRCm39) |
V74D |
possibly damaging |
Het |
Spint3 |
T |
A |
2: 164,411,923 (GRCm39) |
K29* |
probably null |
Het |
Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
Tacc2 |
T |
A |
7: 130,228,258 (GRCm39) |
W1648R |
probably benign |
Het |
Tbc1d21 |
C |
G |
9: 58,273,991 (GRCm39) |
V62L |
probably damaging |
Het |
Tectb |
A |
G |
19: 55,172,270 (GRCm39) |
N130S |
probably benign |
Het |
Tln2 |
A |
T |
9: 67,304,975 (GRCm39) |
|
probably benign |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Tpd52l1 |
G |
T |
10: 31,255,314 (GRCm39) |
T11K |
probably benign |
Het |
Ttll10 |
G |
T |
4: 156,133,055 (GRCm39) |
P10T |
probably benign |
Het |
Vmn1r215 |
A |
G |
13: 23,260,409 (GRCm39) |
I150V |
possibly damaging |
Het |
Zdhhc11 |
T |
A |
13: 74,127,411 (GRCm39) |
Y263N |
probably damaging |
Het |
Zfp354a |
C |
T |
11: 50,960,628 (GRCm39) |
R279* |
probably null |
Het |
Zfp715 |
A |
G |
7: 42,948,430 (GRCm39) |
I510T |
|
Het |
Zfp735 |
A |
T |
11: 73,601,692 (GRCm39) |
H212L |
possibly damaging |
Het |
Zfpm1 |
A |
G |
8: 123,063,772 (GRCm39) |
T944A |
unknown |
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 |
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 |
|
|
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'- CCTGAGTGAAGGAGGGCTTTAC -3'
(R):5'- CTTATGCTGTAACTAGTAGACATTCC -3'
Sequencing Primer
(F):5'- GAGGGCTTTACCATCTCCACCAG -3'
(R):5'- CATTCCTTTTATATGTGTCCTTTTGC -3'
|
Posted On |
2021-07-15 |