Incidental Mutation 'R8755:Cep162'
| ID |
664120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
068596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R8755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87114064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 336
(E336G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: E336G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: E336G
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,255,520 (GRCm39) |
D86E |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,843,130 (GRCm39) |
D583G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,598,556 (GRCm39) |
D1127E |
probably benign |
Het |
| Anks4b |
T |
A |
7: 119,773,307 (GRCm39) |
|
probably null |
Het |
| Ano8 |
A |
T |
8: 71,935,724 (GRCm39) |
F298Y |
probably benign |
Het |
| Arhgef2 |
C |
A |
3: 88,536,850 (GRCm39) |
Q7K |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,693,890 (GRCm39) |
I1868V |
probably benign |
Het |
| Cand2 |
T |
C |
6: 115,769,941 (GRCm39) |
L917P |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,238,083 (GRCm39) |
D44G |
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,435 (GRCm39) |
N224S |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,866,069 (GRCm39) |
M2792T |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,886,957 (GRCm39) |
K143* |
probably null |
Het |
| Cyth1 |
T |
A |
11: 118,074,768 (GRCm39) |
M178L |
probably benign |
Het |
| Dcaf11 |
C |
T |
14: 55,798,023 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,967,225 (GRCm39) |
W1203G |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,133 (GRCm39) |
S141T |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,786,895 (GRCm39) |
S725P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,120 (GRCm39) |
D49E |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,861,086 (GRCm39) |
D647E |
unknown |
Het |
| Gstp1 |
T |
C |
19: 4,086,698 (GRCm39) |
Y109C |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,468,031 (GRCm39) |
E202G |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 14,985,563 (GRCm39) |
F698L |
probably benign |
Het |
| Hephl1 |
G |
T |
9: 15,023,280 (GRCm39) |
P41T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,509,371 (GRCm39) |
E3659V |
probably benign |
Het |
| Il27ra |
A |
T |
8: 84,765,988 (GRCm39) |
D229E |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,103,369 (GRCm39) |
D706V |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,133,926 (GRCm39) |
C1893S |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Laptm4b |
A |
G |
15: 34,273,420 (GRCm39) |
D111G |
probably damaging |
Het |
| Ldb3 |
T |
A |
14: 34,299,256 (GRCm39) |
S123C |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,345 (GRCm39) |
E121K |
possibly damaging |
Het |
| Mmp13 |
T |
A |
9: 7,277,996 (GRCm39) |
S296R |
possibly damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,439,238 (GRCm39) |
F232S |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,148,817 (GRCm39) |
C990S |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,279 (GRCm39) |
C758S |
possibly damaging |
Het |
| Nwd1 |
A |
T |
8: 73,394,192 (GRCm39) |
D485V |
probably damaging |
Het |
| Or13a21 |
T |
G |
7: 139,999,417 (GRCm39) |
S90R |
probably benign |
Het |
| Or6c2 |
T |
C |
10: 129,362,332 (GRCm39) |
F79L |
possibly damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,786 (GRCm39) |
I225N |
probably damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,108 (GRCm39) |
R122Q |
probably benign |
Het |
| Pgm5 |
T |
A |
19: 24,812,212 (GRCm39) |
I107F |
probably damaging |
Het |
| Pid1 |
G |
T |
1: 84,016,066 (GRCm39) |
H114N |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,703,807 (GRCm39) |
T710A |
probably benign |
Het |
| Plpbp |
T |
A |
8: 27,535,165 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
G |
7: 107,343,432 (GRCm39) |
F824V |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Psg17 |
T |
A |
7: 18,550,836 (GRCm39) |
T340S |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,961,133 (GRCm39) |
S239P |
probably damaging |
Het |
| Ralbp1 |
A |
C |
17: 66,166,036 (GRCm39) |
S383A |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,300,969 (GRCm39) |
L613* |
probably null |
Het |
| Rgs11 |
T |
C |
17: 26,422,346 (GRCm39) |
V49A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,791,693 (GRCm39) |
V1404I |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Slc22a13 |
T |
A |
9: 119,038,126 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,316,526 (GRCm39) |
I591L |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,088,733 (GRCm39) |
V46E |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,194,039 (GRCm39) |
G132S |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,408,851 (GRCm39) |
R724* |
probably null |
Het |
| Tmco3 |
A |
T |
8: 13,341,782 (GRCm39) |
I19L |
probably benign |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tpm1 |
A |
T |
9: 66,935,371 (GRCm39) |
L248Q |
probably benign |
Het |
| Tprn |
T |
A |
2: 25,154,027 (GRCm39) |
I443N |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,651,290 (GRCm39) |
H1545L |
possibly damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,104 (GRCm39) |
M786K |
probably damaging |
Het |
| Wipi1 |
C |
T |
11: 109,494,645 (GRCm39) |
V63M |
probably damaging |
Het |
| Zcchc4 |
G |
A |
5: 52,976,724 (GRCm39) |
R506H |
unknown |
Het |
| Zfand6 |
A |
T |
7: 84,281,899 (GRCm39) |
V110E |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,381 (GRCm39) |
Y80N |
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 |
|
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 |
|
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'- GGTTTCATTTGATCACGCCC -3'
(R):5'- TCCGGAATGACTCTGTTTTGTC -3'
Sequencing Primer
(F):5'- TTTGATCACGCCCATTACATTCAAAC -3'
(R):5'- GCACAGGAGTTGTATTTATTTCCAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation