Incidental Mutation 'R8762:Cep162'
| ID |
671859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
068622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8762 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87109314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 430
(S430G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: S430G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: S430G
| 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 |
|
| Meta Mutation Damage Score |
0.0617 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
G |
11: 101,301,226 (GRCm39) |
V272A |
probably benign |
Het |
| Acbd6 |
G |
A |
1: 155,562,706 (GRCm39) |
E236K |
probably damaging |
Het |
| Actr1b |
T |
C |
1: 36,748,909 (GRCm39) |
N9S |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,401,595 (GRCm39) |
D133E |
probably benign |
Het |
| Adam6b |
G |
A |
12: 113,453,227 (GRCm39) |
V15M |
probably damaging |
Het |
| Adam9 |
T |
A |
8: 25,457,235 (GRCm39) |
N631I |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,714,461 (GRCm39) |
N157S |
probably benign |
Het |
| Amy2a1 |
A |
T |
3: 113,325,276 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,967,515 (GRCm39) |
Y180F |
probably benign |
Het |
| Arhgef7 |
T |
C |
8: 11,831,216 (GRCm39) |
V105A |
probably benign |
Het |
| Bambi |
G |
A |
18: 3,511,277 (GRCm39) |
D33N |
probably damaging |
Het |
| Bicc1 |
G |
A |
10: 70,779,216 (GRCm39) |
T724I |
probably benign |
Het |
| Brd2 |
T |
A |
17: 34,335,934 (GRCm39) |
Q93L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,972,759 (GRCm39) |
D222G |
possibly damaging |
Het |
| Cdh1 |
G |
T |
8: 107,386,336 (GRCm39) |
D420Y |
probably damaging |
Het |
| Cfap161 |
T |
A |
7: 83,443,282 (GRCm39) |
R27S |
possibly damaging |
Het |
| Chek1 |
C |
T |
9: 36,629,636 (GRCm39) |
A237T |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 54,922,995 (GRCm39) |
K271M |
probably damaging |
Het |
| Coro7 |
A |
C |
16: 4,452,203 (GRCm39) |
V410G |
probably benign |
Het |
| Crmp1 |
C |
A |
5: 37,441,440 (GRCm39) |
N507K |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,761,369 (GRCm39) |
R755G |
possibly damaging |
Het |
| Disc1 |
A |
G |
8: 125,881,796 (GRCm39) |
D577G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,156,811 (GRCm39) |
Y649H |
possibly damaging |
Het |
| Flywch1 |
A |
G |
17: 23,975,731 (GRCm39) |
S504P |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,097,851 (GRCm39) |
V46D |
probably damaging |
Het |
| Fpr-rs7 |
C |
T |
17: 20,333,789 (GRCm39) |
V234M |
probably benign |
Het |
| Ighv5-16 |
T |
C |
12: 113,802,288 (GRCm39) |
N71D |
probably benign |
Het |
| Kash5 |
G |
T |
7: 44,845,481 (GRCm39) |
D152E |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,937,157 (GRCm39) |
M480V |
probably benign |
Het |
| L3mbtl3 |
T |
A |
10: 26,152,121 (GRCm39) |
D825V |
probably damaging |
Het |
| Lef1 |
T |
A |
3: 130,988,366 (GRCm39) |
M311K |
probably damaging |
Het |
| Magi1 |
T |
A |
6: 93,792,789 (GRCm39) |
R150* |
probably null |
Het |
| Magi3 |
C |
T |
3: 103,958,169 (GRCm39) |
V639I |
probably damaging |
Het |
| Mocos |
A |
T |
18: 24,812,554 (GRCm39) |
R483W |
probably damaging |
Het |
| Mrps11 |
G |
T |
7: 78,438,487 (GRCm39) |
V80F |
possibly damaging |
Het |
| Myh2 |
A |
T |
11: 67,084,578 (GRCm39) |
R1706W |
probably damaging |
Het |
| Neurod6 |
T |
A |
6: 55,656,228 (GRCm39) |
L136F |
probably damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,711,306 (GRCm39) |
Y308N |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,525,905 (GRCm39) |
|
probably benign |
Het |
| Or1e28-ps1 |
G |
T |
11: 73,615,307 (GRCm39) |
T181N |
unknown |
Het |
| Or5g25 |
A |
T |
2: 85,478,034 (GRCm39) |
S210R |
probably damaging |
Het |
| Oscar |
A |
G |
7: 3,613,900 (GRCm39) |
S227P |
probably benign |
Het |
| Phgdh |
A |
C |
3: 98,247,024 (GRCm39) |
I42R |
possibly damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,761,935 (GRCm39) |
G174D |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,591,213 (GRCm39) |
T203A |
possibly damaging |
Het |
| Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
A |
T |
3: 117,119,482 (GRCm39) |
V309D |
probably damaging |
Het |
| Pltp |
T |
C |
2: 164,686,652 (GRCm39) |
K324E |
possibly damaging |
Het |
| Pml |
C |
T |
9: 58,154,348 (GRCm39) |
R175H |
probably damaging |
Het |
| Psg20 |
C |
A |
7: 18,408,557 (GRCm39) |
V388F |
probably benign |
Het |
| Qrfprl |
T |
C |
6: 65,424,393 (GRCm39) |
V182A |
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,237,557 (GRCm39) |
D209G |
possibly damaging |
Het |
| Rif1 |
A |
T |
2: 52,001,742 (GRCm39) |
N90I |
|
Het |
| Sec31a |
T |
C |
5: 100,526,688 (GRCm39) |
H57R |
|
Het |
| Sidt1 |
T |
C |
16: 44,152,707 (GRCm39) |
N62S |
probably benign |
Het |
| Slc18a2 |
T |
A |
19: 59,261,355 (GRCm39) |
M172K |
probably benign |
Het |
| Slc34a3 |
T |
C |
2: 25,121,003 (GRCm39) |
T362A |
probably benign |
Het |
| Smtn |
T |
G |
11: 3,476,407 (GRCm39) |
D158A |
probably benign |
Het |
| Spen |
C |
T |
4: 141,200,261 (GRCm39) |
V2789M |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,910,849 (GRCm39) |
N608K |
probably benign |
Het |
| Tctn3 |
A |
G |
19: 40,595,636 (GRCm39) |
V383A |
unknown |
Het |
| Themis3 |
A |
T |
17: 66,866,676 (GRCm39) |
M188K |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,652,313 (GRCm39) |
V124A |
probably benign |
Het |
| Tshr |
G |
A |
12: 91,504,324 (GRCm39) |
V421M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,539,426 (GRCm39) |
D34520V |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,608,294 (GRCm39) |
Y17876* |
probably null |
Het |
| Zrsr2-ps1 |
T |
C |
11: 22,923,694 (GRCm39) |
L156P |
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 |
|
|
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 |
|
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'- TGGTAATAAGGCCCACCCAC -3'
(R):5'- CTGAGGAATTCATGCTACCTTCAG -3'
Sequencing Primer
(F):5'- CAGGAAAGACAGCACCCAAAGATG -3'
(R):5'- GCTCTGTTTTATTCTGTAGCCTTAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation