Incidental Mutation 'R5468:Cep162'
| ID |
433353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
043029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5468 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87109290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 438
(L438V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: L438V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: L438V
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188289
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
C |
T |
7: 44,009,659 (GRCm39) |
R181Q |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,244,062 (GRCm39) |
L1975Q |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,036,443 (GRCm39) |
I180N |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,577,202 (GRCm39) |
D221G |
probably damaging |
Het |
| Adamts4 |
A |
G |
1: 171,080,178 (GRCm39) |
T244A |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,696 (GRCm39) |
I43N |
probably damaging |
Het |
| Anxa1 |
A |
T |
19: 20,355,847 (GRCm39) |
Y207N |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,395,510 (GRCm39) |
L662P |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,788,667 (GRCm39) |
I593K |
probably damaging |
Het |
| Arsj |
T |
C |
3: 126,232,037 (GRCm39) |
V261A |
possibly damaging |
Het |
| Atp7b |
A |
T |
8: 22,549,986 (GRCm39) |
|
probably null |
Het |
| C2cd2 |
C |
T |
16: 97,669,791 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,384,568 (GRCm39) |
S2571T |
probably damaging |
Het |
| Cfap74 |
A |
T |
4: 155,510,498 (GRCm39) |
N361I |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,743,633 (GRCm39) |
I548T |
probably damaging |
Het |
| Cracd |
A |
T |
5: 76,988,610 (GRCm39) |
|
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,816,594 (GRCm39) |
N382S |
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,907,557 (GRCm39) |
N4306K |
probably damaging |
Het |
| Fam181a |
A |
T |
12: 103,282,937 (GRCm39) |
M281L |
probably benign |
Het |
| Fam186b |
A |
G |
15: 99,176,751 (GRCm39) |
I713T |
possibly damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,323,053 (GRCm39) |
Y1068F |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,493,247 (GRCm39) |
I231V |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,272,735 (GRCm39) |
D1681G |
possibly damaging |
Het |
| Gm10999 |
G |
A |
8: 129,858,130 (GRCm39) |
P5S |
probably damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Impg1 |
T |
C |
9: 80,347,318 (GRCm39) |
I9V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,948,678 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
A |
G |
1: 153,109,310 (GRCm39) |
S1161P |
probably damaging |
Het |
| Lipm |
T |
A |
19: 34,086,954 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
G |
T |
3: 158,024,073 (GRCm39) |
N107K |
probably damaging |
Het |
| Lypd8 |
T |
C |
11: 58,277,586 (GRCm39) |
S123P |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,002,729 (GRCm39) |
D1084G |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,964,519 (GRCm39) |
S1000P |
probably benign |
Het |
| Ms4a7 |
C |
T |
19: 11,299,778 (GRCm39) |
C71Y |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,537,615 (GRCm39) |
S34P |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,064,785 (GRCm39) |
N406S |
probably benign |
Het |
| Nbr1 |
A |
T |
11: 101,463,290 (GRCm39) |
M586L |
probably benign |
Het |
| Nfatc1 |
C |
T |
18: 80,693,070 (GRCm39) |
R677H |
probably benign |
Het |
| Nlrc3 |
A |
C |
16: 3,781,899 (GRCm39) |
S503R |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,064,425 (GRCm39) |
F968I |
probably benign |
Het |
| Onecut1 |
A |
T |
9: 74,770,614 (GRCm39) |
T346S |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,343,455 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8b35 |
G |
A |
9: 37,904,307 (GRCm39) |
C168Y |
probably damaging |
Het |
| Or8g32 |
A |
G |
9: 39,305,257 (GRCm39) |
N57D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,730,966 (GRCm39) |
K3156M |
unknown |
Het |
| Pigo |
C |
T |
4: 43,024,562 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,809,072 (GRCm39) |
F580S |
probably damaging |
Het |
| Plekhm2 |
G |
T |
4: 141,355,411 (GRCm39) |
P879H |
probably damaging |
Het |
| Ppm1e |
T |
A |
11: 87,121,716 (GRCm39) |
Y747F |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,361,952 (GRCm39) |
F69L |
possibly damaging |
Het |
| Prss27 |
C |
A |
17: 24,257,287 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Prss29 |
T |
A |
17: 25,540,020 (GRCm39) |
N139K |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,339,191 (GRCm39) |
T1777S |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,678,584 (GRCm39) |
H844L |
possibly damaging |
Het |
| Rubcnl |
G |
A |
14: 75,269,471 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Sec14l5 |
A |
G |
16: 4,985,004 (GRCm39) |
|
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,801,356 (GRCm39) |
N435K |
probably damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,936,226 (GRCm39) |
K223E |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,106,502 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,476,811 (GRCm39) |
F817S |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,796,632 (GRCm39) |
N197D |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,040,207 (GRCm39) |
T183A |
probably benign |
Het |
| Uroc1 |
A |
T |
6: 90,315,586 (GRCm39) |
M156L |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,291,160 (GRCm39) |
V196A |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,983,950 (GRCm39) |
Y592H |
probably benign |
Het |
| Zfp553 |
T |
C |
7: 126,836,202 (GRCm39) |
S586P |
probably benign |
Het |
| Zfp619 |
C |
T |
7: 39,185,152 (GRCm39) |
A394V |
unknown |
Het |
| Zfp985 |
A |
G |
4: 147,667,702 (GRCm39) |
Y190C |
probably benign |
Het |
| Zmynd10 |
T |
A |
9: 107,427,536 (GRCm39) |
D309E |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,352,646 (GRCm39) |
L73P |
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 |
|
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'- TGAATGCTACTTTGGGGCTAC -3'
(R):5'- TGTAGCCTTAAGAAAGCAACGG -3'
Sequencing Primer
(F):5'- CTACTTTGAGCTTGAGACTGGAC -3'
(R):5'- CGGACAGTAAAGAAGCTGAATCTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation