Incidental Mutation 'R7355:Cep162'
| ID |
570886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
045441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 87136008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 12
(E12*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093802
AA Change: E12*
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: E12*
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,486,621 (GRCm39) |
R1469W |
probably benign |
Het |
| Acad10 |
G |
T |
5: 121,768,780 (GRCm39) |
Y728* |
probably null |
Het |
| Adamts17 |
T |
C |
7: 66,725,052 (GRCm39) |
V160A |
|
Het |
| Astn1 |
A |
T |
1: 158,491,846 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
T |
C |
14: 60,282,453 (GRCm39) |
K104E |
possibly damaging |
Het |
| Axl |
T |
C |
7: 25,473,531 (GRCm39) |
Y365C |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,423,173 (GRCm39) |
Y409F |
probably benign |
Het |
| Caln1 |
A |
T |
5: 130,443,732 (GRCm39) |
T22S |
probably benign |
Het |
| Camk1 |
C |
A |
6: 113,315,307 (GRCm39) |
G164C |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,861,655 (GRCm39) |
T512A |
possibly damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,481,312 (GRCm39) |
D353G |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,064,553 (GRCm39) |
V365E |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,196 (GRCm39) |
H231R |
unknown |
Het |
| Cntnap3 |
T |
C |
13: 64,919,776 (GRCm39) |
T694A |
probably benign |
Het |
| Colq |
C |
A |
14: 31,267,066 (GRCm39) |
G158V |
probably damaging |
Het |
| Ctif |
G |
A |
18: 75,743,756 (GRCm39) |
H139Y |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,042,144 (GRCm39) |
F934Y |
probably damaging |
Het |
| Dclre1a |
T |
A |
19: 56,535,567 (GRCm39) |
T6S |
possibly damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,180 (GRCm39) |
D529G |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,147,377 (GRCm39) |
Q3955L |
probably benign |
Het |
| Gjd4 |
A |
G |
18: 9,280,860 (GRCm39) |
S73P |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,274,226 (GRCm39) |
Q1460K |
probably benign |
Het |
| Golga5 |
A |
T |
12: 102,438,494 (GRCm39) |
I70F |
possibly damaging |
Het |
| Gon4l |
T |
A |
3: 88,770,827 (GRCm39) |
I502N |
probably damaging |
Het |
| Gtf2ird2 |
C |
G |
5: 134,245,491 (GRCm39) |
A583G |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,838,081 (GRCm39) |
W694G |
possibly damaging |
Het |
| Ifit1bl2 |
C |
T |
19: 34,597,061 (GRCm39) |
G185D |
probably damaging |
Het |
| Igfbp6 |
G |
A |
15: 102,056,375 (GRCm39) |
A145T |
probably benign |
Het |
| Junb |
C |
T |
8: 85,705,013 (GRCm39) |
A16T |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,269 (GRCm39) |
V333I |
possibly damaging |
Het |
| Ly6c1 |
T |
C |
15: 74,919,256 (GRCm39) |
T45A |
possibly damaging |
Het |
| Mon2 |
T |
A |
10: 122,845,421 (GRCm39) |
Q1428L |
probably benign |
Het |
| Nfatc2ip |
C |
T |
7: 125,986,783 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
C |
A |
3: 103,643,395 (GRCm39) |
G329W |
probably damaging |
Het |
| Or10ag56 |
T |
C |
2: 87,139,754 (GRCm39) |
V207A |
probably benign |
Het |
| Or10al2 |
A |
G |
17: 37,983,301 (GRCm39) |
Y129C |
probably benign |
Het |
| Or6d15 |
T |
A |
6: 116,559,916 (GRCm39) |
|
probably benign |
Het |
| Or9g3 |
C |
T |
2: 85,584,023 (GRCm39) |
P106L |
probably benign |
Het |
| Pcsk7 |
A |
G |
9: 45,820,672 (GRCm39) |
M35V |
probably benign |
Het |
| Phf14 |
A |
G |
6: 12,081,006 (GRCm39) |
N921S |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,011,982 (GRCm39) |
S396F |
possibly damaging |
Het |
| Ppp4r4 |
A |
T |
12: 103,570,841 (GRCm39) |
K766* |
probably null |
Het |
| Pprc1 |
T |
C |
19: 46,053,785 (GRCm39) |
V1105A |
unknown |
Het |
| Prdm9 |
T |
G |
17: 15,765,497 (GRCm39) |
N428H |
probably benign |
Het |
| Prkcg |
C |
T |
7: 3,372,025 (GRCm39) |
T497I |
possibly damaging |
Het |
| Prkcz |
A |
G |
4: 155,441,953 (GRCm39) |
W60R |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,822,571 (GRCm39) |
F217L |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,763,906 (GRCm39) |
Y283* |
probably null |
Het |
| Rest |
A |
G |
5: 77,415,875 (GRCm39) |
M30V |
probably benign |
Het |
| Rfxank |
C |
T |
8: 70,587,957 (GRCm39) |
R150H |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,042,175 (GRCm39) |
Q250L |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,854,987 (GRCm39) |
D366G |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,076,155 (GRCm39) |
D596G |
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,922,371 (GRCm39) |
L568Q |
probably benign |
Het |
| Slain1 |
AT |
ATT |
14: 103,940,012 (GRCm39) |
|
probably null |
Het |
| Slc10a5 |
A |
T |
3: 10,399,375 (GRCm39) |
Y428* |
probably null |
Het |
| Slc25a54 |
T |
C |
3: 109,010,085 (GRCm39) |
W195R |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,239,422 (GRCm39) |
I414T |
probably damaging |
Het |
| Snx4 |
C |
T |
16: 33,087,236 (GRCm39) |
P127L |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,714,191 (GRCm39) |
L166H |
not run |
Het |
| Tapt1 |
C |
T |
5: 44,334,459 (GRCm39) |
V511I |
probably benign |
Het |
| Tbata |
A |
G |
10: 61,010,099 (GRCm39) |
|
probably benign |
Het |
| Tbx4 |
T |
A |
11: 85,802,835 (GRCm39) |
V264E |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,278,438 (GRCm39) |
Y1023* |
probably null |
Het |
| Thop1 |
A |
G |
10: 80,911,465 (GRCm39) |
D117G |
probably damaging |
Het |
| Trip12 |
A |
G |
1: 84,792,604 (GRCm39) |
L13P |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,969,616 (GRCm39) |
N93S |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,237,754 (GRCm39) |
V637E |
probably damaging |
Het |
| Vinac1 |
G |
T |
2: 128,879,149 (GRCm39) |
Q926K |
unknown |
Het |
| Yipf3 |
T |
A |
17: 46,561,566 (GRCm39) |
M168K |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,173,287 (GRCm39) |
C185* |
probably null |
Het |
| Zfyve21 |
A |
T |
12: 111,791,485 (GRCm39) |
I157F |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,286,828 (GRCm39) |
D2253E |
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 |
|
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'- CTGAGGACGGCTGGATAATTC -3'
(R):5'- CTCCAATGGTGTCTCGTAATTGC -3'
Sequencing Primer
(F):5'- AGGACGGCTGGATAATTCTGTAG -3'
(R):5'- GGTGTCTCGTAATTGCAATATAACTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation