Incidental Mutation 'R5356:Cep162'
ID |
424111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep162
|
Ensembl Gene |
ENSMUSG00000056919 |
Gene Name |
centrosomal protein 162 |
Synonyms |
4922501C03Rik |
MMRRC Submission |
042935-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R5356 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87088948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 978
(E978G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
AlphaFold |
Q6ZQ06 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093802
AA Change: E978G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091319 Gene: ENSMUSG00000056919 AA Change: E978G
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
C |
T |
3: 37,119,405 (GRCm39) |
T162I |
probably damaging |
Het |
Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
Amn1 |
T |
C |
6: 149,068,392 (GRCm39) |
I205M |
possibly damaging |
Het |
Ankrd50 |
A |
C |
3: 38,510,334 (GRCm39) |
S678A |
probably damaging |
Het |
Atg13 |
G |
A |
2: 91,522,811 (GRCm39) |
R78* |
probably null |
Het |
Bmper |
T |
G |
9: 23,285,157 (GRCm39) |
F235L |
probably benign |
Het |
Btn2a2 |
C |
T |
13: 23,667,045 (GRCm39) |
V187I |
probably benign |
Het |
Cabs1 |
G |
A |
5: 88,127,492 (GRCm39) |
V48I |
probably benign |
Het |
Cacnb3 |
A |
G |
15: 98,539,498 (GRCm39) |
I212V |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,199,993 (GRCm39) |
L3445Q |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,038,911 (GRCm39) |
L1067* |
probably null |
Het |
Cyp20a1 |
G |
A |
1: 60,418,546 (GRCm39) |
V329I |
probably benign |
Het |
Cyp2d11 |
A |
T |
15: 82,274,712 (GRCm39) |
N288K |
probably benign |
Het |
D430041D05Rik |
T |
G |
2: 104,085,754 (GRCm39) |
T932P |
probably damaging |
Het |
Dlk1 |
T |
A |
12: 109,421,447 (GRCm39) |
C54S |
probably damaging |
Het |
Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
Entpd6 |
T |
A |
2: 150,612,303 (GRCm39) |
F416L |
probably damaging |
Het |
Evx1 |
A |
G |
6: 52,293,602 (GRCm39) |
T257A |
probably benign |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,596 (GRCm39) |
S182T |
probably damaging |
Het |
Glra3 |
A |
T |
8: 56,393,936 (GRCm39) |
I16F |
probably benign |
Het |
Gm11437 |
C |
A |
11: 84,043,513 (GRCm39) |
L259F |
possibly damaging |
Het |
Gorasp1 |
A |
T |
9: 119,757,024 (GRCm39) |
L386Q |
probably damaging |
Het |
Gpsm1 |
T |
C |
2: 26,230,574 (GRCm39) |
V508A |
possibly damaging |
Het |
Gstm1 |
T |
A |
3: 107,920,052 (GRCm39) |
I180F |
probably benign |
Het |
Hc |
T |
C |
2: 34,885,007 (GRCm39) |
D1400G |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,295,052 (GRCm39) |
V3422A |
possibly damaging |
Het |
Map3k4 |
A |
G |
17: 12,466,195 (GRCm39) |
V1128A |
possibly damaging |
Het |
Mboat2 |
G |
C |
12: 25,007,572 (GRCm39) |
V363L |
probably benign |
Het |
Mgat3 |
A |
G |
15: 80,096,655 (GRCm39) |
N494S |
probably damaging |
Het |
Mgat3 |
A |
G |
15: 80,095,811 (GRCm39) |
I213V |
possibly damaging |
Het |
Mtf2 |
A |
T |
5: 108,254,476 (GRCm39) |
T426S |
possibly damaging |
Het |
Muc3a |
T |
C |
5: 137,245,021 (GRCm39) |
I151V |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,191,219 (GRCm39) |
E874G |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,389,192 (GRCm39) |
G2030R |
probably damaging |
Het |
Ncdn |
T |
C |
4: 126,641,021 (GRCm39) |
Y493C |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,263,112 (GRCm39) |
F441L |
probably damaging |
Het |
Ndc80 |
A |
T |
17: 71,828,103 (GRCm39) |
S75T |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,364,282 (GRCm39) |
F1571L |
possibly damaging |
Het |
Nherf2 |
A |
G |
17: 24,860,945 (GRCm39) |
V88A |
probably damaging |
Het |
Nme8 |
A |
G |
13: 19,836,469 (GRCm39) |
F236L |
probably damaging |
Het |
Nsmce4a |
C |
A |
7: 130,138,778 (GRCm39) |
V289L |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 59,208,056 (GRCm39) |
D634V |
probably damaging |
Het |
Pcsk6 |
G |
C |
7: 65,620,340 (GRCm39) |
E479Q |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,812,551 (GRCm39) |
Q3828R |
probably damaging |
Het |
Ptov1 |
T |
A |
7: 44,514,089 (GRCm39) |
T295S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,083,535 (GRCm39) |
M824T |
probably benign |
Het |
Rbm6 |
T |
A |
9: 107,729,865 (GRCm39) |
H129L |
probably damaging |
Het |
Rbm8a2 |
A |
G |
1: 175,806,255 (GRCm39) |
I74T |
possibly damaging |
Het |
Ret |
A |
G |
6: 118,174,079 (GRCm39) |
S6P |
possibly damaging |
Het |
Rspo3 |
A |
T |
10: 29,376,064 (GRCm39) |
C70* |
probably null |
Het |
Sike1 |
C |
A |
3: 102,909,106 (GRCm39) |
A202D |
possibly damaging |
Het |
Slco4c1 |
G |
T |
1: 96,759,835 (GRCm39) |
P499H |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,794,356 (GRCm39) |
|
probably benign |
Het |
Tmem135 |
A |
G |
7: 88,954,723 (GRCm39) |
V98A |
probably benign |
Het |
Tor4a |
T |
A |
2: 25,085,918 (GRCm39) |
|
probably null |
Het |
Txlna |
A |
G |
4: 129,524,166 (GRCm39) |
F397S |
probably damaging |
Het |
Tyk2 |
A |
G |
9: 21,027,040 (GRCm39) |
I581T |
probably benign |
Het |
Unc13a |
C |
T |
8: 72,115,158 (GRCm39) |
D164N |
probably benign |
Het |
Vwa3b |
T |
C |
1: 37,153,664 (GRCm39) |
I502T |
probably damaging |
Het |
Xrcc6 |
A |
G |
15: 81,913,419 (GRCm39) |
T6A |
probably benign |
Het |
Zfp524 |
T |
C |
7: 5,021,432 (GRCm39) |
V320A |
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 |
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 |
|
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'- AGCCTGTCTGGAACACAAAGG -3'
(R):5'- GAACGCACTTTCCTAGGTTAAAG -3'
Sequencing Primer
(F):5'- ACCCGATGGACTTAGGCTTC -3'
(R):5'- CGCACTTTCCTAGGTTAAAGAAATGG -3'
|
Posted On |
2016-08-04 |