Incidental Mutation 'R9640:Cep162'
| ID |
725930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R9640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87126352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 187
(S187P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: S187P
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: S187P
| 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: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
C |
16: 14,436,589 (GRCm39) |
V214A |
|
Het |
| A830018L16Rik |
A |
G |
1: 12,021,200 (GRCm39) |
K403R |
probably damaging |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,412,809 (GRCm39) |
R44W |
possibly damaging |
Het |
| Abhd17c |
A |
T |
7: 83,800,814 (GRCm39) |
L80Q |
probably damaging |
Het |
| Adam30 |
T |
A |
3: 98,069,620 (GRCm39) |
D484E |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,010 (GRCm39) |
V2299E |
possibly damaging |
Het |
| Atp6v1c1 |
C |
T |
15: 38,689,381 (GRCm39) |
R281W |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,201,553 (GRCm39) |
|
probably null |
Het |
| Ccdc50 |
T |
C |
16: 27,225,461 (GRCm39) |
V58A |
probably damaging |
Het |
| Clip4 |
C |
T |
17: 72,163,264 (GRCm39) |
T612M |
possibly damaging |
Het |
| Corin |
C |
T |
5: 72,592,597 (GRCm39) |
V267I |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 40,000,180 (GRCm39) |
I434K |
probably benign |
Het |
| Ddx43 |
T |
G |
9: 78,303,389 (GRCm39) |
D76E |
probably benign |
Het |
| Dusp5 |
A |
G |
19: 53,526,051 (GRCm39) |
E231G |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,166,394 (GRCm39) |
V242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,831,896 (GRCm39) |
R1973S |
probably benign |
Het |
| Gas2l3 |
A |
T |
10: 89,266,774 (GRCm39) |
D55E |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,477,303 (GRCm39) |
I195V |
probably benign |
Het |
| H2-M1 |
G |
T |
17: 36,983,031 (GRCm39) |
T20K |
probably benign |
Het |
| H2-Q2 |
T |
G |
17: 35,562,206 (GRCm39) |
L151R |
probably damaging |
Het |
| Hbegf |
T |
C |
18: 36,640,643 (GRCm39) |
Y138C |
probably damaging |
Het |
| Hectd1 |
C |
A |
12: 51,795,197 (GRCm39) |
E2411* |
probably null |
Het |
| Igkv11-125 |
T |
A |
6: 67,890,783 (GRCm39) |
S34T |
possibly damaging |
Het |
| Jam2 |
A |
T |
16: 84,609,960 (GRCm39) |
T191S |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,185,089 (GRCm39) |
I457T |
probably damaging |
Het |
| Khk |
A |
G |
5: 31,079,303 (GRCm39) |
D15G |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,526,875 (GRCm39) |
Y2244* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,078,929 (GRCm39) |
N1841S |
|
Het |
| Lrp4 |
A |
G |
2: 91,316,296 (GRCm39) |
T805A |
probably benign |
Het |
| Lrp6 |
C |
T |
6: 134,441,414 (GRCm39) |
R1184Q |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,900,699 (GRCm39) |
L442* |
probably null |
Het |
| Mapk8ip3 |
T |
C |
17: 25,155,647 (GRCm39) |
N61S |
possibly damaging |
Het |
| Matcap2 |
A |
T |
9: 22,351,228 (GRCm39) |
I457L |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,754,539 (GRCm39) |
V4685E |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,745,325 (GRCm39) |
E134G |
possibly damaging |
Het |
| Mtss2 |
T |
C |
8: 111,464,575 (GRCm39) |
V403A |
probably benign |
Het |
| Ndst4 |
C |
A |
3: 125,232,196 (GRCm39) |
T255K |
probably damaging |
Het |
| Or1i2 |
G |
C |
10: 78,448,311 (GRCm39) |
L55V |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,761 (GRCm39) |
M58L |
probably damaging |
Het |
| Or5ae2 |
G |
A |
7: 84,506,114 (GRCm39) |
C181Y |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,396 (GRCm39) |
L51P |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,515,355 (GRCm39) |
D126E |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,397,142 (GRCm39) |
T675A |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,121,116 (GRCm39) |
D185G |
probably damaging |
Het |
| Rnase2a |
G |
A |
14: 51,493,117 (GRCm39) |
R83C |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,583,994 (GRCm39) |
T784A |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,189 (GRCm39) |
T272S |
|
Het |
| Sorcs2 |
G |
T |
5: 36,222,765 (GRCm39) |
S330* |
probably null |
Het |
| Spdef |
G |
T |
17: 27,936,183 (GRCm39) |
H253Q |
|
Het |
| Tas2r144 |
A |
G |
6: 42,192,428 (GRCm39) |
E56G |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,074,825 (GRCm39) |
C479R |
probably damaging |
Het |
| Ttc36 |
A |
T |
9: 44,714,034 (GRCm39) |
L28Q |
probably benign |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,098 (GRCm39) |
S109P |
possibly damaging |
Het |
| Vamp5 |
G |
A |
6: 72,347,276 (GRCm39) |
|
probably benign |
Het |
| Wwox |
A |
G |
8: 115,166,540 (GRCm39) |
D10G |
possibly damaging |
Het |
| Zfp40 |
T |
C |
17: 23,394,493 (GRCm39) |
Y698C |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,106,458 (GRCm39) |
D183G |
probably benign |
Het |
| Zfp932 |
T |
C |
5: 110,157,064 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,209,899 (GRCm39) |
L57H |
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 |
|
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 |
|
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'- GGCAGTTGTAATGCTTAGCTGC -3'
(R):5'- AGTTACCTGAGTCATGGGATGATAC -3'
Sequencing Primer
(F):5'- CTTAGCTGCTGAGATAATACCACAGG -3'
(R):5'- CCTGAGTCATGGGATGATACATATAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation