Incidental Mutation 'R5859:Cep162'
ID |
455070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep162
|
Ensembl Gene |
ENSMUSG00000056919 |
Gene Name |
centrosomal protein 162 |
Synonyms |
4922501C03Rik |
MMRRC Submission |
044071-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R5859 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87086145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1060
(A1060T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
AlphaFold |
Q6ZQ06 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093802
AA Change: A1060T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000091319 Gene: ENSMUSG00000056919 AA Change: A1060T
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 |
0.0775 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
Validation Efficiency |
93% (70/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,303,477 (GRCm39) |
V150E |
probably benign |
Het |
Alg11 |
A |
G |
8: 22,555,857 (GRCm39) |
K373E |
probably benign |
Het |
Arl14ep |
C |
T |
2: 106,799,398 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
G |
A |
11: 4,608,284 (GRCm39) |
G227R |
probably benign |
Het |
Ash1l |
C |
T |
3: 88,976,300 (GRCm39) |
P2627S |
probably damaging |
Het |
Btla |
T |
G |
16: 45,059,402 (GRCm39) |
|
probably null |
Het |
Btnl10 |
C |
T |
11: 58,813,138 (GRCm39) |
P256S |
probably benign |
Het |
Cfap54 |
T |
A |
10: 92,852,386 (GRCm39) |
K907* |
probably null |
Het |
Chpf |
A |
T |
1: 75,452,072 (GRCm39) |
F461I |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,670,114 (GRCm39) |
Y79C |
probably damaging |
Het |
Copb2 |
G |
A |
9: 98,450,161 (GRCm39) |
C40Y |
probably benign |
Het |
Cyfip1 |
T |
C |
7: 55,574,929 (GRCm39) |
L1060P |
probably damaging |
Het |
Drg1 |
G |
A |
11: 3,209,273 (GRCm39) |
|
probably benign |
Het |
Erich3 |
A |
G |
3: 154,468,134 (GRCm39) |
D862G |
possibly damaging |
Het |
Flii |
G |
T |
11: 60,607,137 (GRCm39) |
Y946* |
probably null |
Het |
Glt8d2 |
T |
C |
10: 82,507,915 (GRCm39) |
M1V |
probably null |
Het |
Gm21136 |
T |
A |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
Gramd1c |
T |
C |
16: 43,812,454 (GRCm39) |
T393A |
possibly damaging |
Het |
Gucy2d |
T |
A |
7: 98,101,090 (GRCm39) |
I471N |
probably benign |
Het |
Hps3 |
G |
A |
3: 20,063,034 (GRCm39) |
T711M |
probably benign |
Het |
Hs3st4 |
A |
T |
7: 123,582,831 (GRCm39) |
D143V |
probably benign |
Het |
Kif17 |
T |
A |
4: 138,018,744 (GRCm39) |
M461K |
possibly damaging |
Het |
Klhdc7a |
T |
A |
4: 139,694,885 (GRCm39) |
S21C |
probably damaging |
Het |
Klk15 |
G |
A |
7: 43,587,800 (GRCm39) |
R76H |
probably benign |
Het |
Lnpk |
G |
A |
2: 74,399,372 (GRCm39) |
T57I |
possibly damaging |
Het |
Ltbp2 |
A |
G |
12: 84,840,837 (GRCm39) |
V999A |
possibly damaging |
Het |
Ltbr |
T |
C |
6: 125,289,771 (GRCm39) |
H141R |
probably damaging |
Het |
Lvrn |
T |
C |
18: 47,026,816 (GRCm39) |
F805L |
probably damaging |
Het |
Ms4a13 |
A |
T |
19: 11,161,280 (GRCm39) |
C86* |
probably null |
Het |
Ncbp1 |
A |
G |
4: 46,163,026 (GRCm39) |
N480S |
probably benign |
Het |
Nelfcd |
T |
G |
2: 174,268,856 (GRCm39) |
*592G |
probably null |
Het |
Neurog2 |
T |
C |
3: 127,427,664 (GRCm39) |
V96A |
probably benign |
Het |
Nod1 |
A |
T |
6: 54,907,162 (GRCm39) |
W902R |
probably benign |
Het |
Or12d13 |
T |
C |
17: 37,647,260 (GRCm39) |
I288V |
possibly damaging |
Het |
Or4k15c |
T |
A |
14: 50,321,484 (GRCm39) |
Y218F |
probably damaging |
Het |
Or55b3 |
T |
C |
7: 102,126,957 (GRCm39) |
Y40C |
possibly damaging |
Het |
Or6d13 |
T |
C |
6: 116,517,861 (GRCm39) |
L149P |
probably damaging |
Het |
Pcdha11 |
A |
T |
18: 37,140,336 (GRCm39) |
H655L |
probably damaging |
Het |
Plpp7 |
A |
G |
2: 31,985,996 (GRCm39) |
E58G |
probably benign |
Het |
Psph |
A |
T |
5: 129,867,685 (GRCm39) |
|
probably benign |
Het |
Rab11fip1 |
A |
C |
8: 27,644,748 (GRCm39) |
S346A |
probably damaging |
Het |
Rreb1 |
C |
A |
13: 38,131,384 (GRCm39) |
P1513T |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,131,385 (GRCm39) |
P1513L |
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
Scap |
A |
G |
9: 110,203,115 (GRCm39) |
N263S |
probably benign |
Het |
Sec24d |
A |
T |
3: 123,072,961 (GRCm39) |
|
probably benign |
Het |
Slain2 |
T |
C |
5: 73,105,888 (GRCm39) |
|
probably benign |
Het |
Slc6a18 |
G |
T |
13: 73,816,278 (GRCm39) |
T367N |
probably benign |
Het |
Slk |
T |
A |
19: 47,597,481 (GRCm39) |
D96E |
probably benign |
Het |
Spag5 |
G |
A |
11: 78,204,360 (GRCm39) |
V514I |
probably benign |
Het |
St8sia2 |
T |
C |
7: 73,616,654 (GRCm39) |
D107G |
probably damaging |
Het |
Tgfbr3 |
T |
A |
5: 107,288,381 (GRCm39) |
I427F |
probably benign |
Het |
Tlr2 |
T |
G |
3: 83,743,810 (GRCm39) |
T758P |
possibly damaging |
Het |
Tmem270 |
A |
G |
5: 134,931,738 (GRCm39) |
V68A |
probably benign |
Het |
Vmn2r106 |
T |
A |
17: 20,505,583 (GRCm39) |
H37L |
possibly damaging |
Het |
Vmn2r27 |
T |
G |
6: 124,177,647 (GRCm39) |
R452S |
probably damaging |
Het |
Wdr5 |
A |
G |
2: 27,423,362 (GRCm39) |
Y252C |
probably damaging |
Het |
Zswim9 |
C |
T |
7: 12,995,371 (GRCm39) |
V262M |
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 |
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'- TTTCCTCAGATTCAGTACGAACAG -3'
Sequencing Primer
(F):5'- TCGACAGCATCATCCTTCTC -3'
(R):5'- TTCAGTACGAACAGCGGCTAG -3'
|
Posted On |
2017-02-10 |