Incidental Mutation 'R2228:Cep162'
| ID |
239864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
040229-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R2228 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87126384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 176
(T176K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: T176K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: T176K
| 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: ENSMUST00000144137
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,559,935 (GRCm39) |
T242A |
probably benign |
Het |
| Adam24 |
A |
T |
8: 41,133,404 (GRCm39) |
I291L |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,694,056 (GRCm39) |
R407L |
possibly damaging |
Het |
| Aldh3b2 |
C |
T |
19: 4,031,133 (GRCm39) |
P461S |
probably benign |
Het |
| Araf |
T |
C |
X: 20,717,912 (GRCm39) |
F144L |
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,861,091 (GRCm39) |
D193Y |
probably damaging |
Het |
| Atp6v1b2 |
C |
A |
8: 69,555,411 (GRCm39) |
|
probably null |
Het |
| Bclaf1 |
T |
A |
10: 20,215,624 (GRCm39) |
|
probably benign |
Het |
| Cadps |
A |
G |
14: 12,465,935 (GRCm38) |
Y987H |
probably benign |
Het |
| Capn6 |
T |
G |
X: 142,587,785 (GRCm39) |
T498P |
possibly damaging |
Het |
| Ccdc153 |
T |
A |
9: 44,154,314 (GRCm39) |
L47Q |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,948,856 (GRCm39) |
|
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,956,088 (GRCm39) |
D297G |
probably benign |
Het |
| Entpd8 |
T |
C |
2: 24,975,028 (GRCm39) |
M453T |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,099,734 (GRCm39) |
L18Q |
probably damaging |
Het |
| Fem1b |
G |
T |
9: 62,704,020 (GRCm39) |
C413* |
probably null |
Het |
| Flrt1 |
T |
A |
19: 7,072,723 (GRCm39) |
D608V |
probably damaging |
Het |
| Fstl5 |
C |
A |
3: 76,389,659 (GRCm39) |
N285K |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,004,107 (GRCm39) |
H235R |
probably damaging |
Het |
| Htr2c |
G |
C |
X: 145,977,186 (GRCm39) |
W325C |
probably damaging |
Het |
| Htr2c |
G |
T |
X: 145,977,188 (GRCm39) |
C326F |
probably damaging |
Het |
| Ifit1bl2 |
G |
T |
19: 34,596,630 (GRCm39) |
L329M |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,792 (GRCm39) |
S920P |
probably damaging |
Het |
| Macroh2a1 |
C |
T |
13: 56,232,075 (GRCm39) |
G235S |
probably damaging |
Het |
| Mcm8 |
T |
A |
2: 132,662,041 (GRCm39) |
I125K |
possibly damaging |
Het |
| Micall1 |
C |
T |
15: 79,014,036 (GRCm39) |
R644W |
probably damaging |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,801,463 (GRCm39) |
E1887G |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,970,904 (GRCm39) |
T296A |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,364,361 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,123,007 (GRCm39) |
R3734G |
probably benign |
Het |
| Nup93 |
C |
T |
8: 95,030,819 (GRCm39) |
T305I |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,802 (GRCm39) |
M271L |
probably benign |
Het |
| P2ry4 |
A |
G |
X: 99,637,553 (GRCm39) |
L115P |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp1r26 |
T |
C |
2: 28,343,798 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Ppp1r3c |
C |
A |
19: 36,711,098 (GRCm39) |
R224L |
probably benign |
Het |
| Ptafr |
T |
G |
4: 132,306,691 (GRCm39) |
I27R |
possibly damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,835,104 (GRCm39) |
C182R |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,192,076 (GRCm39) |
F1455L |
possibly damaging |
Het |
| Rufy1 |
C |
T |
11: 50,288,611 (GRCm39) |
|
probably null |
Het |
| Samd9l |
T |
C |
6: 3,376,910 (GRCm39) |
H117R |
probably benign |
Het |
| Sfxn4 |
C |
T |
19: 60,839,458 (GRCm39) |
G200E |
probably damaging |
Het |
| Sipa1l3 |
T |
A |
7: 29,077,364 (GRCm39) |
K803* |
probably null |
Het |
| Smim23 |
C |
A |
11: 32,771,870 (GRCm39) |
Q65H |
probably damaging |
Het |
| Spata18 |
A |
T |
5: 73,824,244 (GRCm39) |
I156L |
possibly damaging |
Het |
| Sppl2b |
G |
A |
10: 80,701,451 (GRCm39) |
V389M |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,292,651 (GRCm39) |
I973V |
probably damaging |
Het |
| Ssx2ip |
C |
T |
3: 146,123,531 (GRCm39) |
P10L |
probably damaging |
Het |
| Taf2 |
A |
C |
15: 54,928,042 (GRCm39) |
D120E |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,555,068 (GRCm39) |
L42S |
probably benign |
Het |
| Tex15 |
C |
A |
8: 34,061,265 (GRCm39) |
H232N |
probably benign |
Het |
| Tg |
A |
T |
15: 66,545,860 (GRCm39) |
Q194L |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,198,513 (GRCm39) |
|
probably null |
Het |
| Tro |
A |
T |
X: 149,438,477 (GRCm39) |
M60K |
probably benign |
Het |
| Ttc38 |
G |
A |
15: 85,728,704 (GRCm39) |
V219I |
probably benign |
Het |
| U2af2 |
T |
C |
7: 5,078,672 (GRCm39) |
I417T |
probably damaging |
Het |
| Ube2r2 |
C |
T |
4: 41,174,044 (GRCm39) |
H61Y |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r113 |
C |
T |
7: 20,521,832 (GRCm39) |
S208F |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,024,955 (GRCm39) |
K16E |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,641,745 (GRCm39) |
Y437N |
probably damaging |
Het |
| Zdhhc4 |
A |
C |
5: 143,306,162 (GRCm39) |
W189G |
probably damaging |
Het |
| Zfp512 |
A |
T |
5: 31,622,919 (GRCm39) |
K73N |
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 |
|
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'- GGCACTGTACACTCTGCTTC -3'
(R):5'- ACCTGAGTCATGGGATGATACATATAC -3'
Sequencing Primer
(F):5'- CTGCTTCTCGGAGAATCTCC -3'
(R):5'- TGCACGCATATAAAGTTATGTGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation