Incidental Mutation 'R6091:Cep170'
| ID |
485900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep170
|
| Ensembl Gene |
ENSMUSG00000057335 |
| Gene Name |
centrosomal protein 170 |
| Synonyms |
A330004A13Rik, 4933426L22Rik |
| MMRRC Submission |
044248-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.728)
|
| Stock # |
R6091 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
176561219-176641633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 176583397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 994
(G994D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057037]
[ENSMUST00000192927]
[ENSMUST00000194727]
[ENSMUST00000195433]
[ENSMUST00000195717]
|
| AlphaFold |
Q6A065 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057037
AA Change: G994D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: G994D
| 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 |
possibly damaging
Transcript: ENSMUST00000192927
AA Change: G229D
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142032
Gene: ENSMUSG00000057335
AA Change: G229D
| 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 |
possibly damaging
Transcript: ENSMUST00000194727
AA Change: G994D
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: G994D
| 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 |
noncoding transcript
Transcript: ENSMUST00000194984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195121
|
| 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 damaging
Transcript: ENSMUST00000195717
AA Change: G994D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: G994D
| 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: ENSMUST00000195463
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
96% (54/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
G |
2: 35,252,348 (GRCm39) |
T50P |
possibly damaging |
Het |
| Adad1 |
A |
G |
3: 37,139,118 (GRCm39) |
E396G |
possibly damaging |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,829 (GRCm39) |
C232S |
probably damaging |
Het |
| AI606181 |
T |
C |
19: 41,582,063 (GRCm39) |
S78P |
unknown |
Het |
| Amph |
T |
A |
13: 19,309,293 (GRCm39) |
M457K |
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,223,171 (GRCm39) |
M174K |
probably benign |
Het |
| C3 |
T |
A |
17: 57,528,967 (GRCm39) |
K632* |
probably null |
Het |
| Chd7 |
T |
C |
4: 8,751,875 (GRCm39) |
V124A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,761,691 (GRCm39) |
K2259E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,784,402 (GRCm39) |
T137A |
unknown |
Het |
| Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
| Ddx42 |
A |
T |
11: 106,125,796 (GRCm39) |
Q282L |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,804,390 (GRCm39) |
T1833A |
possibly damaging |
Het |
| Fpr-rs3 |
A |
G |
17: 20,844,532 (GRCm39) |
I203T |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,818,796 (GRCm39) |
I2139T |
probably benign |
Het |
| Frmpd2 |
T |
C |
14: 33,244,820 (GRCm39) |
V546A |
probably damaging |
Het |
| Gbp11 |
G |
T |
5: 105,479,254 (GRCm39) |
T123N |
possibly damaging |
Het |
| Hs3st1 |
G |
A |
5: 39,772,007 (GRCm39) |
P212L |
probably damaging |
Het |
| Ifnb1 |
T |
A |
4: 88,440,813 (GRCm39) |
M67L |
probably benign |
Het |
| Ighv1-54 |
T |
C |
12: 115,157,497 (GRCm39) |
N50S |
probably benign |
Het |
| Ikzf4 |
G |
A |
10: 128,470,542 (GRCm39) |
T326I |
probably benign |
Het |
| Ints2 |
A |
T |
11: 86,127,429 (GRCm39) |
V501E |
probably damaging |
Het |
| Mfsd1 |
C |
A |
3: 67,507,270 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mrps11 |
G |
A |
7: 78,438,466 (GRCm39) |
A73T |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,229,291 (GRCm39) |
E311G |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,347,635 (GRCm39) |
T176A |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,460,482 (GRCm39) |
L1495R |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,069,113 (GRCm39) |
T451A |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,220,715 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,310,443 (GRCm39) |
L201P |
probably damaging |
Het |
| Nfxl1 |
G |
T |
5: 72,671,533 (GRCm39) |
L909I |
probably benign |
Het |
| Nr3c1 |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
18: 39,620,011 (GRCm39) |
|
probably benign |
Het |
| Or5aq1b |
T |
A |
2: 86,901,705 (GRCm39) |
S258C |
probably benign |
Het |
| Plscr5 |
A |
G |
9: 92,086,437 (GRCm39) |
T136A |
probably benign |
Het |
| Ppp1r3a |
G |
A |
6: 14,719,339 (GRCm39) |
T525I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,215,979 (GRCm38) |
G1143R |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,771,398 (GRCm39) |
T2541A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,247 (GRCm39) |
L1244P |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,316,482 (GRCm39) |
H1673Y |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,428 (GRCm39) |
I44T |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,681 (GRCm39) |
N53Y |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,276,539 (GRCm39) |
T338A |
possibly damaging |
Het |
| Taf6l |
T |
C |
19: 8,755,920 (GRCm39) |
T243A |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,459,891 (GRCm39) |
R487G |
probably damaging |
Het |
| Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,929,338 (GRCm39) |
V2794M |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,132,000 (GRCm39) |
C741G |
probably damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,684 (GRCm39) |
I208F |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,496,790 (GRCm39) |
I21F |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,545,958 (GRCm39) |
D610G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,096,468 (GRCm39) |
S229G |
probably benign |
Het |
| Xirp1 |
A |
G |
9: 119,847,029 (GRCm39) |
V618A |
probably benign |
Het |
| Zbtb32 |
A |
G |
7: 30,291,254 (GRCm39) |
S14P |
possibly damaging |
Het |
| Zfp24 |
A |
G |
18: 24,147,269 (GRCm39) |
S348P |
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 |
|
|
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 |
|
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'- TCATCGGCTGAGGTAAGTGG -3'
(R):5'- GACAATTCAATTTCCCCAGAGTC -3'
Sequencing Primer
(F):5'- GAGTCCGTCCATGAGATTTGCAG -3'
(R):5'- CAATTTCCCCAGAGTCTGATGTAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation