Incidental Mutation 'R4598:Cep162'
ID |
345367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep162
|
Ensembl Gene |
ENSMUSG00000056919 |
Gene Name |
centrosomal protein 162 |
Synonyms |
4922501C03Rik |
MMRRC Submission |
041814-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R4598 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87085848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 1159
(Y1159H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
AlphaFold |
Q6ZQ06 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093802
AA Change: Y1159H
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000091319 Gene: ENSMUSG00000056919 AA Change: Y1159H
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
G |
A |
1: 11,818,188 (GRCm39) |
|
probably null |
Het |
Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
Abcb7 |
A |
C |
X: 103,366,988 (GRCm39) |
D135E |
probably benign |
Het |
Ace |
T |
A |
11: 105,872,585 (GRCm39) |
|
probably null |
Het |
Acnat1 |
T |
C |
4: 49,450,781 (GRCm39) |
D110G |
probably benign |
Het |
Ak9 |
C |
T |
10: 41,259,907 (GRCm39) |
P862S |
probably damaging |
Het |
Atp1a3 |
A |
G |
7: 24,678,766 (GRCm39) |
S972P |
probably damaging |
Het |
Bmf |
C |
A |
2: 118,379,609 (GRCm39) |
A56S |
probably benign |
Het |
C6 |
T |
C |
15: 4,792,852 (GRCm39) |
L319P |
possibly damaging |
Het |
Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
Cdc14b |
T |
C |
13: 64,395,088 (GRCm39) |
T69A |
probably benign |
Het |
Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,511,444 (GRCm39) |
N41K |
probably damaging |
Het |
Clock |
T |
C |
5: 76,383,657 (GRCm39) |
M499V |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,327,227 (GRCm39) |
I473V |
probably benign |
Het |
D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
Eif4e3 |
T |
A |
6: 99,617,671 (GRCm39) |
I67L |
probably benign |
Het |
Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
Esp31 |
T |
A |
17: 38,952,012 (GRCm39) |
|
probably null |
Het |
Esrp2 |
A |
G |
8: 106,859,343 (GRCm39) |
M498T |
probably damaging |
Het |
F5 |
T |
C |
1: 164,032,366 (GRCm39) |
I1771T |
probably benign |
Het |
Fancd2 |
C |
A |
6: 113,562,438 (GRCm39) |
H1259Q |
probably benign |
Het |
Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
Kat2b |
A |
G |
17: 53,977,826 (GRCm39) |
Y791C |
probably benign |
Het |
Kazn |
A |
G |
4: 141,937,403 (GRCm39) |
V108A |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
Med13 |
T |
C |
11: 86,169,392 (GRCm39) |
T1955A |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,420,884 (GRCm39) |
S841C |
probably damaging |
Het |
Megf10 |
G |
A |
18: 57,322,675 (GRCm39) |
|
probably null |
Het |
Mep1a |
A |
G |
17: 43,802,469 (GRCm39) |
|
probably null |
Het |
Mrap2 |
A |
T |
9: 87,064,842 (GRCm39) |
E194D |
probably damaging |
Het |
Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,089,968 (GRCm39) |
F530L |
probably damaging |
Het |
Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
Or52e7 |
A |
C |
7: 104,685,280 (GRCm39) |
I292L |
probably benign |
Het |
Or6c216 |
T |
C |
10: 129,678,864 (GRCm39) |
T16A |
possibly damaging |
Het |
Or9i16 |
A |
T |
19: 13,865,381 (GRCm39) |
H64Q |
probably damaging |
Het |
Oxtr |
C |
T |
6: 112,466,713 (GRCm39) |
G16R |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,201,829 (GRCm39) |
K464N |
probably benign |
Het |
Pja2 |
A |
T |
17: 64,620,025 (GRCm39) |
M1K |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,573,280 (GRCm39) |
N1875K |
probably damaging |
Het |
Pogz |
T |
C |
3: 94,787,491 (GRCm39) |
S1360P |
possibly damaging |
Het |
Proc |
A |
T |
18: 32,256,512 (GRCm39) |
L385Q |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,402,492 (GRCm39) |
I132T |
probably benign |
Het |
Rpgr |
A |
G |
X: 10,062,255 (GRCm39) |
S343P |
probably benign |
Het |
Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
Scyl1 |
A |
G |
19: 5,820,481 (GRCm39) |
S118P |
probably damaging |
Het |
Sec61a1 |
T |
C |
6: 88,483,131 (GRCm39) |
N414D |
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Sema7a |
A |
G |
9: 57,860,834 (GRCm39) |
D65G |
probably benign |
Het |
Slc25a45 |
A |
G |
19: 5,934,464 (GRCm39) |
Y144C |
probably damaging |
Het |
Slc26a6 |
A |
G |
9: 108,733,579 (GRCm39) |
Y103C |
probably damaging |
Het |
Stat3 |
C |
T |
11: 100,794,500 (GRCm39) |
D270N |
probably damaging |
Het |
Taar8b |
T |
C |
10: 23,967,736 (GRCm39) |
S153G |
probably benign |
Het |
Top1 |
A |
G |
2: 160,562,885 (GRCm39) |
E697G |
possibly damaging |
Het |
Trappc11 |
G |
A |
8: 47,966,801 (GRCm39) |
T470I |
probably damaging |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Usp29 |
A |
G |
7: 6,965,479 (GRCm39) |
T441A |
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,804,029 (GRCm39) |
L182* |
probably null |
Het |
Zgrf1 |
T |
C |
3: 127,394,679 (GRCm39) |
I1345T |
probably benign |
Het |
Zscan25 |
G |
T |
5: 145,227,815 (GRCm39) |
R493L |
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 |
R1847:Cep162
|
UTSW |
9 |
87,086,133 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
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'- AAACCGAGCTTCTTTTGGTTC -3'
(R):5'- TCAATGAAGAGCTGGCAGC -3'
Sequencing Primer
(F):5'- AAACCGAGCTTCTTTTGGTTCTCATG -3'
(R):5'- CTGGCAGCGAAGGGGAG -3'
|
Posted On |
2015-09-25 |