Incidental Mutation 'R1941:Cep162'
| ID |
214016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
039959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1941 (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 G
at 87082048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 1286
(I1286L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: I1286L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: I1286L
| 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
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.8%
- 20x: 91.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Art2b |
A |
C |
7: 101,229,524 (GRCm39) |
F125C |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,159,612 (GRCm39) |
Y1616C |
probably damaging |
Het |
| Chd9 |
T |
A |
8: 91,703,697 (GRCm39) |
|
probably null |
Het |
| Col11a2 |
T |
A |
17: 34,263,925 (GRCm39) |
S247T |
probably benign |
Het |
| Col6a4 |
T |
G |
9: 105,952,209 (GRCm39) |
D563A |
probably benign |
Het |
| Crebbp |
C |
T |
16: 3,997,555 (GRCm39) |
M176I |
probably benign |
Het |
| Cyp4a12b |
A |
G |
4: 115,295,256 (GRCm39) |
N454S |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,643,024 (GRCm39) |
|
probably null |
Het |
| Dock7 |
G |
A |
4: 98,872,952 (GRCm39) |
L1165F |
probably benign |
Het |
| Fam117a |
A |
T |
11: 95,271,624 (GRCm39) |
N399Y |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,195,488 (GRCm39) |
K396R |
unknown |
Het |
| Foxk1 |
T |
A |
5: 142,442,429 (GRCm39) |
V693E |
possibly damaging |
Het |
| Gml |
A |
G |
15: 74,689,020 (GRCm39) |
L10P |
probably damaging |
Het |
| Gpx8 |
A |
G |
13: 113,182,809 (GRCm39) |
L34P |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,684,162 (GRCm39) |
L689P |
possibly damaging |
Het |
| Mt4 |
G |
A |
8: 94,864,874 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Naa15 |
C |
A |
3: 51,363,355 (GRCm39) |
Y346* |
probably null |
Het |
| Ntrk3 |
C |
T |
7: 77,897,010 (GRCm39) |
V676I |
probably damaging |
Het |
| Oasl2 |
G |
A |
5: 115,049,423 (GRCm39) |
|
probably benign |
Het |
| Or1e1c |
T |
A |
11: 73,266,447 (GRCm39) |
F294I |
probably damaging |
Het |
| Or6c215 |
T |
A |
10: 129,638,281 (GRCm39) |
M38L |
probably benign |
Het |
| Or6c8 |
T |
G |
10: 128,915,823 (GRCm39) |
N3T |
probably damaging |
Het |
| Or7e169 |
G |
A |
9: 19,757,246 (GRCm39) |
S223F |
probably damaging |
Het |
| Or7g20 |
A |
C |
9: 18,947,162 (GRCm39) |
T248P |
possibly damaging |
Het |
| Otud7a |
C |
T |
7: 63,379,574 (GRCm39) |
R273* |
probably null |
Het |
| Pcare |
T |
G |
17: 72,059,063 (GRCm39) |
T205P |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 76,121,594 (GRCm39) |
R329Q |
probably benign |
Het |
| Pga5 |
G |
T |
19: 10,646,820 (GRCm39) |
|
probably null |
Het |
| Ppp1r1a |
A |
G |
15: 103,441,528 (GRCm39) |
|
probably null |
Het |
| Pus10 |
A |
G |
11: 23,661,198 (GRCm39) |
Q262R |
possibly damaging |
Het |
| Rbm17 |
T |
C |
2: 11,593,885 (GRCm39) |
K241R |
possibly damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,259,701 (GRCm39) |
D114E |
probably damaging |
Het |
| Safb |
T |
A |
17: 56,905,992 (GRCm39) |
|
probably benign |
Het |
| Sgpl1 |
T |
C |
10: 60,939,086 (GRCm39) |
Y371C |
probably damaging |
Het |
| Siglec1 |
C |
A |
2: 130,920,051 (GRCm39) |
A827S |
possibly damaging |
Het |
| Smg5 |
T |
A |
3: 88,252,687 (GRCm39) |
S158T |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Spaca6 |
A |
G |
17: 18,058,664 (GRCm39) |
I71V |
probably benign |
Het |
| Spaca6 |
A |
G |
17: 18,058,692 (GRCm39) |
E80G |
probably damaging |
Het |
| Steap1 |
C |
A |
5: 5,790,541 (GRCm39) |
A136S |
probably damaging |
Het |
| Supv3l1 |
G |
C |
10: 62,285,391 (GRCm39) |
P25R |
probably benign |
Het |
| Tex21 |
T |
C |
12: 76,268,458 (GRCm39) |
K108R |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,933,201 (GRCm39) |
Y688H |
probably damaging |
Het |
| Tnr |
G |
A |
1: 159,677,704 (GRCm39) |
E30K |
possibly damaging |
Het |
| Tnrc18 |
G |
T |
5: 142,800,905 (GRCm39) |
P18T |
probably damaging |
Het |
| Ttk |
T |
G |
9: 83,735,179 (GRCm39) |
S422A |
probably benign |
Het |
| Ubap1 |
A |
G |
4: 41,378,968 (GRCm39) |
K61E |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,284,952 (GRCm39) |
R522H |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,616,242 (GRCm39) |
E1185D |
possibly damaging |
Het |
| Wwp2 |
A |
G |
8: 108,244,547 (GRCm39) |
T194A |
probably benign |
Het |
| Zfp36 |
A |
G |
7: 28,077,071 (GRCm39) |
V279A |
probably damaging |
Het |
| Zfp870 |
C |
A |
17: 33,101,778 (GRCm39) |
R517L |
possibly 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 |
|
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 |
|
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'- TCATATGGTGGTTACTGTGTAAGCC -3'
(R):5'- CGTAGTATTCAAGGAGGAGCC -3'
Sequencing Primer
(F):5'- AGCCATATTAAAACAGGTTTGGG -3'
(R):5'- GAGGAGCCTTATTAGCCAAATAATTC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation