Incidental Mutation 'R1847:Cep162'
| ID |
207808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
039872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1847 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87086133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 1064
(H1064Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: H1064Y
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: H1064Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
coiled coil region
|
630 |
674 |
N/A |
INTRINSIC |
|
coiled coil region
|
695 |
899 |
N/A |
INTRINSIC |
|
coiled coil region
|
953 |
1124 |
N/A |
INTRINSIC |
|
coiled coil region
|
1235 |
1386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157106
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
C |
A |
16: 14,263,313 (GRCm39) |
R758S |
probably benign |
Het |
| Acnat1 |
A |
T |
4: 49,447,716 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Adamts1 |
T |
C |
16: 85,599,114 (GRCm39) |
E162G |
possibly damaging |
Het |
| Akap11 |
A |
G |
14: 78,751,101 (GRCm39) |
S429P |
probably benign |
Het |
| Alg14 |
T |
C |
3: 121,155,415 (GRCm39) |
Y212H |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,357,007 (GRCm39) |
T97A |
probably damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,420,821 (GRCm39) |
N310Y |
possibly damaging |
Het |
| Cenpl |
A |
T |
1: 160,913,574 (GRCm39) |
Y328F |
probably damaging |
Het |
| Cnksr3 |
T |
A |
10: 7,104,324 (GRCm39) |
E126D |
probably benign |
Het |
| Ctsh |
T |
A |
9: 89,943,618 (GRCm39) |
M81K |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,932,112 (GRCm39) |
T284A |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,616 (GRCm39) |
M196K |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,725,212 (GRCm39) |
G4314C |
probably damaging |
Het |
| Dph1 |
A |
G |
11: 75,070,557 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ect2 |
C |
T |
3: 27,204,221 (GRCm39) |
M29I |
probably benign |
Het |
| Eif3h |
T |
C |
15: 51,661,066 (GRCm39) |
Y167C |
probably damaging |
Het |
| Epc2 |
C |
T |
2: 49,422,101 (GRCm39) |
R332C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,897,282 (GRCm39) |
|
probably null |
Het |
| Gfm2 |
A |
G |
13: 97,299,442 (GRCm39) |
I386V |
probably benign |
Het |
| Gpd1l |
G |
A |
9: 114,743,399 (GRCm39) |
T167I |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,546,950 (GRCm39) |
K567* |
probably null |
Het |
| Igfn1 |
T |
G |
1: 135,897,126 (GRCm39) |
S1147R |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,874,590 (GRCm39) |
V406A |
probably benign |
Het |
| Kcna2 |
A |
G |
3: 107,012,429 (GRCm39) |
I337V |
possibly damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,209,615 (GRCm39) |
|
probably null |
Het |
| Kri1 |
G |
T |
9: 21,191,788 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,110,322 (GRCm39) |
I801K |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,807,458 (GRCm39) |
N871Y |
probably damaging |
Het |
| Map3k10 |
G |
T |
7: 27,360,981 (GRCm39) |
|
probably null |
Het |
| Mrps25 |
T |
C |
6: 92,155,721 (GRCm39) |
T71A |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,390,321 (GRCm39) |
W945* |
probably null |
Het |
| Ncan |
A |
T |
8: 70,555,104 (GRCm39) |
I1021N |
probably damaging |
Het |
| Ncf4 |
C |
A |
15: 78,134,582 (GRCm39) |
S11R |
probably benign |
Het |
| Neb |
A |
C |
2: 52,086,307 (GRCm39) |
S5255R |
possibly damaging |
Het |
| Nop2 |
TGATGAAGATGAAGATGA |
TGATGAAGATGA |
6: 125,114,042 (GRCm39) |
|
probably benign |
Het |
| Or4c102 |
G |
A |
2: 88,422,516 (GRCm39) |
A123T |
probably damaging |
Het |
| Or5ak22 |
A |
T |
2: 85,230,785 (GRCm39) |
F31I |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,065 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
T |
C |
19: 5,203,742 (GRCm39) |
I328V |
probably damaging |
Het |
| Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
| Pan2 |
A |
G |
10: 128,140,247 (GRCm39) |
H56R |
possibly damaging |
Het |
| Pigo |
G |
A |
4: 43,024,710 (GRCm39) |
R124* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,763,571 (GRCm39) |
D1188G |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,603,355 (GRCm39) |
N327D |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,172,656 (GRCm39) |
C223R |
possibly damaging |
Het |
| Rad50 |
A |
G |
11: 53,592,934 (GRCm39) |
V72A |
possibly damaging |
Het |
| Rcor3 |
T |
A |
1: 191,785,133 (GRCm39) |
D445V |
possibly damaging |
Het |
| Rundc1 |
T |
A |
11: 101,324,507 (GRCm39) |
H404Q |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,779,236 (GRCm39) |
K2083E |
probably benign |
Het |
| Scd3 |
C |
A |
19: 44,224,281 (GRCm39) |
H171Q |
probably damaging |
Het |
| Scrn2 |
T |
C |
11: 96,923,021 (GRCm39) |
F155L |
probably benign |
Het |
| Serpina12 |
A |
T |
12: 103,998,769 (GRCm39) |
L323Q |
probably damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,467,843 (GRCm39) |
M467K |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,528,970 (GRCm39) |
R1742S |
possibly damaging |
Het |
| Thbd |
A |
T |
2: 148,249,604 (GRCm39) |
L88* |
probably null |
Het |
| Tln2 |
G |
A |
9: 67,269,969 (GRCm39) |
Q477* |
probably null |
Het |
| Tnn |
T |
A |
1: 159,943,752 (GRCm39) |
E1020D |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,726,990 (GRCm39) |
H3Q |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmp1 |
G |
A |
11: 86,534,413 (GRCm39) |
Q165* |
probably null |
Het |
| Zfp758 |
T |
A |
17: 22,594,204 (GRCm39) |
M230K |
probably benign |
Het |
|
| Other mutations in Cep162 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Cep162
|
APN |
9 |
87,109,220 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL00584:Cep162
|
APN |
9 |
87,103,143 (GRCm39) |
splice site |
probably benign |
|
|
IGL01387:Cep162
|
APN |
9 |
87,093,864 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01862:Cep162
|
APN |
9 |
87,135,986 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02304:Cep162
|
APN |
9 |
87,109,200 (GRCm39) |
splice site |
probably benign |
|
|
IGL02558:Cep162
|
APN |
9 |
87,107,779 (GRCm39) |
missense |
probably benign |
|
|
IGL02558:Cep162
|
APN |
9 |
87,107,786 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02602:Cep162
|
APN |
9 |
87,128,206 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02636:Cep162
|
APN |
9 |
87,130,432 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02680:Cep162
|
APN |
9 |
87,128,797 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03195:Cep162
|
APN |
9 |
87,107,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
circus
|
UTSW |
9 |
87,088,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
moscow
|
UTSW |
9 |
87,075,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
smiley
|
UTSW |
9 |
87,099,134 (GRCm39) |
nonsense |
probably null |
|
|
PIT4378001:Cep162
|
UTSW |
9 |
87,099,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4431001:Cep162
|
UTSW |
9 |
87,126,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4434001:Cep162
|
UTSW |
9 |
87,075,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Cep162
|
UTSW |
9 |
87,119,878 (GRCm39) |
splice site |
probably benign |
|
|
R0218:Cep162
|
UTSW |
9 |
87,093,862 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0366:Cep162
|
UTSW |
9 |
87,102,537 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0468:Cep162
|
UTSW |
9 |
87,075,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0764:Cep162
|
UTSW |
9 |
87,083,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Cep162
|
UTSW |
9 |
87,103,255 (GRCm39) |
missense |
probably benign |
|
|
R1614:Cep162
|
UTSW |
9 |
87,094,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Cep162
|
UTSW |
9 |
87,085,736 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1831:Cep162
|
UTSW |
9 |
87,088,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Cep162
|
UTSW |
9 |
87,082,048 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2228:Cep162
|
UTSW |
9 |
87,126,384 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2256:Cep162
|
UTSW |
9 |
87,088,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Cep162
|
UTSW |
9 |
87,088,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2936:Cep162
|
UTSW |
9 |
87,109,467 (GRCm39) |
missense |
probably benign |
|
|
R3005:Cep162
|
UTSW |
9 |
87,114,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3508:Cep162
|
UTSW |
9 |
87,114,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3689:Cep162
|
UTSW |
9 |
87,107,747 (GRCm39) |
nonsense |
probably null |
|
|
R3743:Cep162
|
UTSW |
9 |
87,099,230 (GRCm39) |
splice site |
probably benign |
|
|
R4118:Cep162
|
UTSW |
9 |
87,086,229 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4380:Cep162
|
UTSW |
9 |
87,082,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4450:Cep162
|
UTSW |
9 |
87,107,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Cep162
|
UTSW |
9 |
87,094,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4598:Cep162
|
UTSW |
9 |
87,085,848 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4700:Cep162
|
UTSW |
9 |
87,088,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Cep162
|
UTSW |
9 |
87,108,022 (GRCm39) |
intron |
probably benign |
|
|
R5356:Cep162
|
UTSW |
9 |
87,088,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Cep162
|
UTSW |
9 |
87,109,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5579:Cep162
|
UTSW |
9 |
87,085,724 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5859:Cep162
|
UTSW |
9 |
87,086,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Cep162
|
UTSW |
9 |
87,085,763 (GRCm39) |
missense |
probably benign |
|
|
R6143:Cep162
|
UTSW |
9 |
87,094,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6422:Cep162
|
UTSW |
9 |
87,114,069 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6517:Cep162
|
UTSW |
9 |
87,104,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6576:Cep162
|
UTSW |
9 |
87,099,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6782:Cep162
|
UTSW |
9 |
87,093,737 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6867:Cep162
|
UTSW |
9 |
87,099,134 (GRCm39) |
nonsense |
probably null |
|
|
R7293:Cep162
|
UTSW |
9 |
87,085,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7355:Cep162
|
UTSW |
9 |
87,136,008 (GRCm39) |
nonsense |
probably null |
|
|
R7391:Cep162
|
UTSW |
9 |
87,130,547 (GRCm39) |
nonsense |
probably null |
|
|
R7426:Cep162
|
UTSW |
9 |
87,074,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Cep162
|
UTSW |
9 |
87,086,250 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7710:Cep162
|
UTSW |
9 |
87,114,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Cep162
|
UTSW |
9 |
87,126,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7949:Cep162
|
UTSW |
9 |
87,088,901 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8351:Cep162
|
UTSW |
9 |
87,074,903 (GRCm39) |
nonsense |
probably null |
|
|
R8451:Cep162
|
UTSW |
9 |
87,074,903 (GRCm39) |
nonsense |
probably null |
|
|
R8552:Cep162
|
UTSW |
9 |
87,126,361 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8755:Cep162
|
UTSW |
9 |
87,114,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8762:Cep162
|
UTSW |
9 |
87,109,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9640:Cep162
|
UTSW |
9 |
87,126,352 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0063:Cep162
|
UTSW |
9 |
87,104,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Cep162
|
UTSW |
9 |
87,082,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCCTCGACAGCATCATC -3'
(R):5'- TCTTTCCTCAGATTCAGTACGAAC -3'
Sequencing Primer
(F):5'- TCGACAGCATCATCCTTCTC -3'
(R):5'- TTCAGTACGAACAGCGGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation