Incidental Mutation 'R7710:Cep162'
ID |
594548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep162
|
Ensembl Gene |
ENSMUSG00000056919 |
Gene Name |
centrosomal protein 162 |
Synonyms |
4922501C03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R7710 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87114172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 300
(Y300C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
AlphaFold |
Q6ZQ06 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093802
AA Change: Y300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091319 Gene: ENSMUSG00000056919 AA Change: Y300C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,150,810 (GRCm39) |
E151K |
|
Het |
Ap3b1 |
T |
C |
13: 94,587,581 (GRCm39) |
S452P |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,251,200 (GRCm39) |
I463V |
probably benign |
Het |
Calhm4 |
A |
T |
10: 33,920,045 (GRCm39) |
M74K |
possibly damaging |
Het |
Ccdc142 |
T |
C |
6: 83,078,677 (GRCm39) |
S5P |
probably benign |
Het |
Cd300ld |
C |
T |
11: 114,875,038 (GRCm39) |
V199M |
probably damaging |
Het |
Ces2h |
C |
T |
8: 105,727,497 (GRCm39) |
Q5* |
probably null |
Het |
Col9a3 |
C |
T |
2: 180,251,158 (GRCm39) |
L310F |
probably damaging |
Het |
Copa |
A |
G |
1: 171,937,411 (GRCm39) |
D454G |
possibly damaging |
Het |
Ctnnbip1 |
A |
C |
4: 149,630,277 (GRCm39) |
M29L |
probably benign |
Het |
Ctnnbl1 |
A |
G |
2: 157,616,491 (GRCm39) |
D64G |
probably benign |
Het |
Dcxr |
T |
A |
11: 120,617,908 (GRCm39) |
T23S |
probably benign |
Het |
Dennd1b |
T |
A |
1: 138,990,670 (GRCm39) |
H211Q |
probably damaging |
Het |
Ercc8 |
G |
A |
13: 108,320,397 (GRCm39) |
A328T |
probably benign |
Het |
Fam217a |
T |
C |
13: 35,095,111 (GRCm39) |
D216G |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,201,589 (GRCm39) |
Y495F |
probably benign |
Het |
Fbxw13 |
G |
A |
9: 109,024,968 (GRCm39) |
S15F |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,792,962 (GRCm39) |
C964* |
probably null |
Het |
Fshr |
T |
A |
17: 89,292,683 (GRCm39) |
H665L |
probably benign |
Het |
Gm10447 |
A |
T |
11: 53,347,437 (GRCm39) |
C31S |
unknown |
Het |
Gm13272 |
A |
T |
4: 88,698,586 (GRCm39) |
Q167L |
probably benign |
Het |
Gtpbp2 |
T |
C |
17: 46,478,713 (GRCm39) |
I510T |
possibly damaging |
Het |
Hps6 |
G |
A |
19: 45,993,007 (GRCm39) |
A315T |
probably benign |
Het |
Igfbp6 |
A |
C |
15: 102,056,285 (GRCm39) |
T115P |
probably damaging |
Het |
Ikzf4 |
A |
G |
10: 128,468,610 (GRCm39) |
V623A |
possibly damaging |
Het |
Il11ra1 |
T |
C |
4: 41,764,846 (GRCm39) |
V100A |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,756,840 (GRCm39) |
T493A |
probably benign |
Het |
Itgax |
C |
T |
7: 127,735,028 (GRCm39) |
T453I |
probably benign |
Het |
Kras |
T |
C |
6: 145,166,354 (GRCm39) |
T183A |
probably benign |
Het |
Lhcgr |
T |
C |
17: 89,050,210 (GRCm39) |
T439A |
probably damaging |
Het |
Lrrn4 |
T |
C |
2: 132,721,451 (GRCm39) |
H122R |
probably benign |
Het |
Muc2 |
A |
T |
7: 141,287,452 (GRCm39) |
R210S |
possibly damaging |
Het |
Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,022,891 (GRCm39) |
D167G |
unknown |
Het |
Nedd8 |
G |
A |
14: 55,909,446 (GRCm39) |
|
probably benign |
Het |
Or5b94 |
A |
C |
19: 12,652,340 (GRCm39) |
Y257S |
probably damaging |
Het |
Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
Pbxip1 |
T |
A |
3: 89,355,408 (GRCm39) |
D642E |
probably damaging |
Het |
Pcdhb10 |
A |
T |
18: 37,546,654 (GRCm39) |
R577* |
probably null |
Het |
Pcna-ps2 |
T |
A |
19: 9,261,489 (GRCm39) |
Y249* |
probably null |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pla2g6 |
A |
T |
15: 79,171,358 (GRCm39) |
V744E |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,897,903 (GRCm39) |
I207V |
probably benign |
Het |
Prr11 |
T |
C |
11: 86,994,433 (GRCm39) |
D71G |
probably benign |
Het |
Rnf150 |
A |
C |
8: 83,590,781 (GRCm39) |
Y48S |
probably damaging |
Het |
Rsf1 |
G |
A |
7: 97,331,041 (GRCm39) |
G1237D |
|
Het |
Rusc2 |
C |
T |
4: 43,416,119 (GRCm39) |
T475I |
probably benign |
Het |
Scgb1b20 |
T |
A |
7: 33,072,867 (GRCm39) |
I25N |
probably damaging |
Het |
Sdr39u1 |
T |
C |
14: 56,137,116 (GRCm39) |
N65S |
probably benign |
Het |
Sh3gl3 |
T |
C |
7: 81,933,294 (GRCm39) |
V219A |
possibly damaging |
Het |
Shcbp1 |
A |
G |
8: 4,814,965 (GRCm39) |
F171S |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,648,006 (GRCm39) |
F6S |
probably damaging |
Het |
Slc12a4 |
C |
T |
8: 106,672,203 (GRCm39) |
R868H |
possibly damaging |
Het |
Smg6 |
T |
C |
11: 74,821,445 (GRCm39) |
V572A |
probably benign |
Het |
Syn3 |
A |
G |
10: 86,243,534 (GRCm39) |
V135A |
probably damaging |
Het |
Tars3 |
A |
T |
7: 65,314,717 (GRCm39) |
D425V |
probably benign |
Het |
Tmem253 |
A |
T |
14: 52,254,608 (GRCm39) |
Q21L |
possibly damaging |
Het |
Trpm3 |
G |
T |
19: 22,896,154 (GRCm39) |
R997L |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
Ugt1a9 |
A |
G |
1: 87,998,831 (GRCm39) |
T94A |
probably benign |
Het |
Vmn1r62 |
A |
G |
7: 5,678,182 (GRCm39) |
|
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,916,472 (GRCm39) |
C362R |
probably damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp94 |
T |
C |
7: 24,003,107 (GRCm39) |
K112E |
probably benign |
Het |
Zfp954 |
A |
T |
7: 7,120,889 (GRCm39) |
V47E |
probably damaging |
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 |
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 |
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'- ATCCGTCCACTAAGTCTGTCAG -3'
(R):5'- TATCAGGACCGGTCTCACCTTG -3'
Sequencing Primer
(F):5'- AAGTCTGTCAGCTTTTACCGGAC -3'
(R):5'- CACTCTGATAGCTTACCCAGG -3'
|
Posted On |
2019-11-12 |