Incidental Mutation 'R2257:Cep162'
ID |
243471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep162
|
Ensembl Gene |
ENSMUSG00000056919 |
Gene Name |
centrosomal protein 162 |
Synonyms |
4922501C03Rik |
MMRRC Submission |
040257-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R2257 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 87088967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 972
(D972Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
AlphaFold |
Q6ZQ06 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093802
AA Change: D972Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091319 Gene: ENSMUSG00000056919 AA Change: D972Y
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
|
Meta Mutation Damage Score |
0.2844 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (70/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
A |
T |
X: 69,438,012 (GRCm39) |
W94R |
probably damaging |
Het |
Abcc3 |
C |
T |
11: 94,254,420 (GRCm39) |
V693M |
probably damaging |
Het |
Acp7 |
A |
C |
7: 28,313,838 (GRCm39) |
W399G |
probably damaging |
Het |
Ap1s1 |
T |
C |
5: 137,070,633 (GRCm39) |
Y94C |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,158,793 (GRCm39) |
I186T |
probably damaging |
Het |
Atg4a |
A |
G |
X: 139,890,984 (GRCm39) |
I91V |
probably benign |
Het |
Atp7b |
T |
G |
8: 22,488,282 (GRCm39) |
T1102P |
probably damaging |
Het |
Cabs1 |
T |
C |
5: 88,128,074 (GRCm39) |
S242P |
probably damaging |
Het |
Cass4 |
T |
C |
2: 172,269,390 (GRCm39) |
F493L |
probably damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cdk14 |
T |
A |
5: 4,938,924 (GRCm39) |
M433L |
probably benign |
Het |
Cfap100 |
C |
G |
6: 90,390,802 (GRCm39) |
R184P |
possibly damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Clasrp |
A |
G |
7: 19,320,510 (GRCm39) |
|
probably benign |
Het |
Copb1 |
T |
A |
7: 113,853,110 (GRCm39) |
D29V |
possibly damaging |
Het |
Cyp2b9 |
G |
A |
7: 25,873,030 (GRCm39) |
|
probably null |
Het |
Dhx36 |
C |
T |
3: 62,385,064 (GRCm39) |
G683S |
probably damaging |
Het |
Dnaaf11 |
T |
A |
15: 66,309,436 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,838,301 (GRCm39) |
I1110N |
probably damaging |
Het |
Dnajc3 |
C |
G |
14: 119,210,114 (GRCm39) |
P322A |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,785,189 (GRCm39) |
T785A |
probably damaging |
Het |
Fam228a |
T |
C |
12: 4,787,775 (GRCm39) |
|
probably benign |
Het |
Fam83e |
A |
T |
7: 45,378,193 (GRCm39) |
K406* |
probably null |
Het |
Fam83e |
A |
T |
7: 45,378,194 (GRCm39) |
K406M |
possibly damaging |
Het |
Fam90a1a |
T |
A |
8: 22,453,533 (GRCm39) |
L296Q |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,403,408 (GRCm39) |
Y53C |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,166,928 (GRCm39) |
I22V |
probably damaging |
Het |
Fryl |
T |
A |
5: 73,230,187 (GRCm39) |
N1657Y |
possibly damaging |
Het |
Greb1l |
A |
G |
18: 10,503,307 (GRCm39) |
M453V |
possibly damaging |
Het |
Grm8 |
A |
T |
6: 27,760,224 (GRCm39) |
C369S |
probably damaging |
Het |
Hdc |
G |
A |
2: 126,458,000 (GRCm39) |
|
probably null |
Het |
Hsf3 |
A |
T |
X: 95,363,928 (GRCm39) |
L191* |
probably null |
Het |
Iqca1l |
C |
T |
5: 24,757,038 (GRCm39) |
|
probably benign |
Het |
Kif4 |
A |
T |
X: 99,769,737 (GRCm39) |
N1126Y |
probably benign |
Het |
Lat2 |
T |
C |
5: 134,631,481 (GRCm39) |
D191G |
probably damaging |
Het |
Lipt2 |
C |
T |
7: 99,808,601 (GRCm39) |
T38I |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,137,566 (GRCm39) |
L634P |
probably damaging |
Het |
Magea2 |
A |
T |
X: 153,810,855 (GRCm39) |
L243Q |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,835,568 (GRCm39) |
L543P |
probably damaging |
Het |
Mgat4a |
T |
C |
1: 37,529,394 (GRCm39) |
N24D |
probably benign |
Het |
Mical3 |
A |
T |
6: 121,010,696 (GRCm39) |
S429T |
possibly damaging |
Het |
Mrps35 |
A |
G |
6: 146,972,125 (GRCm39) |
E256G |
possibly damaging |
Het |
Mybbp1a |
T |
A |
11: 72,337,021 (GRCm39) |
S586T |
probably benign |
Het |
Myo1e |
G |
A |
9: 70,285,655 (GRCm39) |
|
probably null |
Het |
Nob1 |
A |
G |
8: 108,143,729 (GRCm39) |
|
probably benign |
Het |
Nom1 |
T |
A |
5: 29,642,750 (GRCm39) |
V417D |
probably damaging |
Het |
Nphs1 |
A |
T |
7: 30,167,417 (GRCm39) |
I782F |
possibly damaging |
Het |
Numa1 |
A |
G |
7: 101,649,998 (GRCm39) |
E1243G |
probably damaging |
Het |
Or52e7 |
A |
G |
7: 104,685,026 (GRCm39) |
Y207C |
probably benign |
Het |
Or7g27 |
A |
G |
9: 19,249,789 (GRCm39) |
E11G |
probably benign |
Het |
Padi4 |
G |
A |
4: 140,487,251 (GRCm39) |
T217I |
possibly damaging |
Het |
Pias3 |
C |
T |
3: 96,606,962 (GRCm39) |
T75I |
probably benign |
Het |
Ppp1r37 |
G |
T |
7: 19,295,943 (GRCm39) |
|
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,380,044 (GRCm39) |
P185L |
unknown |
Het |
Prss57 |
C |
T |
10: 79,623,204 (GRCm39) |
C81Y |
probably damaging |
Het |
Psen1 |
C |
T |
12: 83,761,594 (GRCm39) |
S132L |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,788,949 (GRCm39) |
S468P |
possibly damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc2a9 |
T |
C |
5: 38,610,542 (GRCm39) |
T86A |
probably damaging |
Het |
Slco1a6 |
A |
T |
6: 142,036,742 (GRCm39) |
M555K |
probably benign |
Het |
Thoc1 |
C |
A |
18: 9,993,466 (GRCm39) |
D608E |
possibly damaging |
Het |
Tmem121b |
A |
T |
6: 120,469,030 (GRCm39) |
Y562* |
probably null |
Het |
Tmem121b |
A |
G |
6: 120,469,032 (GRCm39) |
Y562H |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,506,696 (GRCm39) |
M122K |
possibly damaging |
Het |
Tmub1 |
C |
A |
5: 24,651,922 (GRCm39) |
G14V |
possibly damaging |
Het |
Uap1 |
A |
T |
1: 169,986,312 (GRCm39) |
|
probably benign |
Het |
Ugdh |
A |
T |
5: 65,574,458 (GRCm39) |
|
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,661,669 (GRCm39) |
C715* |
probably null |
Het |
Vps13a |
G |
A |
19: 16,659,538 (GRCm39) |
T1663I |
possibly damaging |
Het |
Vps13c |
A |
C |
9: 67,860,228 (GRCm39) |
I2815L |
possibly damaging |
Het |
Zc3h3 |
G |
T |
15: 75,711,415 (GRCm39) |
Q349K |
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 |
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'- TACATGGAATCACCCTGGTGG -3'
(R):5'- AAGCTGTAAACAACATGACTGGTG -3'
Sequencing Primer
(F):5'- CCTGGTGGGCAAGGATG -3'
(R):5'- GACTGGTGTAGCTTATTAAACTGC -3'
|
Posted On |
2014-10-16 |