Incidental Mutation 'R6143:Cep162'
ID |
488685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep162
|
Ensembl Gene |
ENSMUSG00000056919 |
Gene Name |
centrosomal protein 162 |
Synonyms |
4922501C03Rik |
MMRRC Submission |
044290-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R6143 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to A
at 87094904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
AlphaFold |
Q6ZQ06 |
Predicted Effect |
probably null
Transcript: ENSMUST00000093802
|
SMART Domains |
Protein: ENSMUSP00000091319 Gene: ENSMUSG00000056919
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730061H03Rik |
A |
G |
14: 55,797,736 (GRCm39) |
|
probably benign |
Het |
Abcd2 |
A |
T |
15: 91,075,150 (GRCm39) |
V221E |
possibly damaging |
Het |
Arhgap39 |
T |
A |
15: 76,614,606 (GRCm39) |
K853* |
probably null |
Het |
Art2a |
T |
C |
7: 101,204,430 (GRCm39) |
D36G |
possibly damaging |
Het |
Atp13a1 |
C |
T |
8: 70,258,010 (GRCm39) |
P922S |
probably benign |
Het |
Brwd1 |
C |
T |
16: 95,804,156 (GRCm39) |
G2005R |
probably benign |
Het |
Bzw2 |
A |
T |
12: 36,170,725 (GRCm39) |
M133K |
probably benign |
Het |
Cacna1s |
T |
G |
1: 136,004,496 (GRCm39) |
S346A |
probably damaging |
Het |
Cebpb |
C |
A |
2: 167,531,220 (GRCm39) |
D93E |
probably benign |
Het |
Col9a2 |
A |
T |
4: 120,911,060 (GRCm39) |
Y565F |
probably damaging |
Het |
Csgalnact1 |
T |
A |
8: 68,826,202 (GRCm39) |
N372I |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,138,315 (GRCm39) |
D1579G |
probably damaging |
Het |
Cyfip2 |
A |
C |
11: 46,144,792 (GRCm39) |
Y687* |
probably null |
Het |
Cyp2d34 |
G |
A |
15: 82,504,977 (GRCm39) |
R28W |
probably benign |
Het |
Dbndd2 |
C |
A |
2: 164,330,206 (GRCm39) |
Q13K |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,233,377 (GRCm39) |
S245R |
probably benign |
Het |
Dnajb5 |
A |
T |
4: 42,956,990 (GRCm39) |
T226S |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,838,430 (GRCm39) |
E211G |
probably benign |
Het |
Dnpep |
G |
A |
1: 75,291,872 (GRCm39) |
H214Y |
probably damaging |
Het |
Drc3 |
G |
A |
11: 60,261,406 (GRCm39) |
V186M |
possibly damaging |
Het |
Dvl3 |
A |
G |
16: 20,345,789 (GRCm39) |
D413G |
possibly damaging |
Het |
Dyrk4 |
C |
T |
6: 126,863,614 (GRCm39) |
|
probably null |
Het |
Edc4 |
T |
A |
8: 106,612,506 (GRCm39) |
D181E |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,393,487 (GRCm39) |
Y247C |
possibly damaging |
Het |
Gm5622 |
A |
T |
14: 51,892,372 (GRCm39) |
R50S |
possibly damaging |
Het |
Gpbp1 |
G |
A |
13: 111,603,389 (GRCm39) |
T20I |
probably damaging |
Het |
Hnrnpdl |
A |
T |
5: 100,184,410 (GRCm39) |
Y276* |
probably null |
Het |
Hsd3b7 |
A |
C |
7: 127,400,404 (GRCm39) |
E51A |
probably damaging |
Het |
Ighv5-16 |
G |
T |
12: 113,802,238 (GRCm39) |
F87L |
probably damaging |
Het |
Iqsec1 |
C |
T |
6: 90,786,666 (GRCm39) |
|
probably null |
Het |
Irgm2 |
A |
T |
11: 58,111,435 (GRCm39) |
E387D |
possibly damaging |
Het |
Klhl23 |
C |
A |
2: 69,664,040 (GRCm39) |
P463Q |
possibly damaging |
Het |
Mast4 |
A |
T |
13: 102,990,391 (GRCm39) |
N43K |
probably damaging |
Het |
Mme |
T |
G |
3: 63,207,532 (GRCm39) |
|
probably null |
Het |
Mrps31 |
T |
G |
8: 22,901,539 (GRCm39) |
S20A |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,157,091 (GRCm39) |
R176G |
probably damaging |
Het |
Naf1 |
T |
C |
8: 67,330,347 (GRCm39) |
V291A |
possibly damaging |
Het |
Nbeal1 |
A |
T |
1: 60,290,466 (GRCm39) |
H1021L |
possibly damaging |
Het |
Ncaph2 |
T |
C |
15: 89,248,206 (GRCm39) |
|
probably null |
Het |
Neurod4 |
T |
G |
10: 130,106,869 (GRCm39) |
Y135S |
probably damaging |
Het |
Nrp2 |
A |
T |
1: 62,799,974 (GRCm39) |
N396I |
probably damaging |
Het |
Nvl |
T |
G |
1: 180,962,560 (GRCm39) |
T137P |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,703,335 (GRCm39) |
D273G |
probably damaging |
Het |
Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
Pcdhgc4 |
T |
A |
18: 37,950,653 (GRCm39) |
S690T |
possibly damaging |
Het |
Pck1 |
A |
T |
2: 172,995,805 (GRCm39) |
D101V |
probably damaging |
Het |
Pdilt |
T |
A |
7: 119,094,265 (GRCm39) |
N329Y |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,825,447 (GRCm39) |
R648W |
probably damaging |
Het |
Prtn3 |
T |
A |
10: 79,716,382 (GRCm39) |
I63N |
probably damaging |
Het |
Psg22 |
C |
T |
7: 18,456,723 (GRCm39) |
A163V |
probably benign |
Het |
Pten |
A |
G |
19: 32,777,485 (GRCm39) |
T160A |
possibly damaging |
Het |
Retreg2 |
A |
G |
1: 75,123,530 (GRCm39) |
D449G |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,317,868 (GRCm39) |
Y1531C |
probably benign |
Het |
Sgk2 |
T |
A |
2: 162,841,174 (GRCm39) |
C195S |
probably damaging |
Het |
Slc19a3 |
C |
T |
1: 83,004,060 (GRCm39) |
V14I |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,526,107 (GRCm39) |
R253* |
probably null |
Het |
Speg |
G |
A |
1: 75,391,031 (GRCm39) |
V1512I |
probably damaging |
Het |
Srsf1 |
G |
A |
11: 87,940,425 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
G |
T |
19: 40,597,671 (GRCm39) |
T190N |
probably benign |
Het |
Tmprss11f |
T |
A |
5: 86,687,558 (GRCm39) |
I117L |
probably benign |
Het |
Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
Vmn2r118 |
G |
T |
17: 55,899,871 (GRCm39) |
L678I |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,668,884 (GRCm39) |
S1594P |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,875,135 (GRCm39) |
H1791N |
possibly 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 |
|
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'- CTTCAGGAAGCCTCAGTCAG -3'
(R):5'- GCAGTATTTCAGATGCGTTGAG -3'
Sequencing Primer
(F):5'- AGTCAGGCTACGACCACAGG -3'
(R):5'- GAAGGAGAAAATATCCCATGACTTC -3'
|
Posted On |
2017-10-10 |