Incidental Mutation 'R6114:Cep162'
| ID |
485027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep162
|
| Ensembl Gene |
ENSMUSG00000056919 |
| Gene Name |
centrosomal protein 162 |
| Synonyms |
4922501C03Rik |
| MMRRC Submission |
044263-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87085763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1187
(I1187T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
| AlphaFold |
Q6ZQ06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: I1187T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: I1187T
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
94% (60/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
A |
14: 68,809,252 (GRCm39) |
V237L |
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,990,163 (GRCm39) |
S878P |
probably damaging |
Het |
| Ahcy |
A |
C |
2: 154,904,079 (GRCm39) |
L386R |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,804,700 (GRCm39) |
N607D |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,933,574 (GRCm39) |
D776G |
possibly damaging |
Het |
| Art4 |
T |
A |
6: 136,834,211 (GRCm39) |
T11S |
unknown |
Het |
| Blm |
T |
C |
7: 80,163,235 (GRCm39) |
T39A |
probably damaging |
Het |
| Cabin1 |
T |
A |
10: 75,583,805 (GRCm39) |
M221L |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,573,101 (GRCm39) |
T1675A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,980,012 (GRCm39) |
H285L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,836,227 (GRCm39) |
E339G |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,859,006 (GRCm39) |
W150R |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,568,385 (GRCm39) |
H807R |
probably damaging |
Het |
| Copb1 |
T |
A |
7: 113,846,036 (GRCm39) |
H178L |
probably benign |
Het |
| Cpxm2 |
A |
G |
7: 131,756,035 (GRCm39) |
V103A |
probably benign |
Het |
| Egfr |
A |
G |
11: 16,854,374 (GRCm39) |
T849A |
possibly damaging |
Het |
| Endou |
T |
A |
15: 97,611,757 (GRCm39) |
K294* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,709 (GRCm39) |
N322D |
probably damaging |
Het |
| Hsph1 |
C |
A |
5: 149,550,852 (GRCm39) |
V416L |
possibly damaging |
Het |
| Igkv4-78 |
T |
A |
6: 69,036,743 (GRCm39) |
T97S |
possibly damaging |
Het |
| Itga10 |
G |
T |
3: 96,556,351 (GRCm39) |
C162F |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,691 (GRCm39) |
E222G |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,058,639 (GRCm39) |
N120S |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,508,617 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,029 (GRCm39) |
I1318V |
probably benign |
Het |
| Lst1 |
T |
C |
17: 35,407,336 (GRCm39) |
T11A |
possibly damaging |
Het |
| Mfn1 |
C |
A |
3: 32,617,985 (GRCm39) |
A106D |
probably damaging |
Het |
| Ms4a12 |
G |
T |
19: 11,192,654 (GRCm39) |
N227K |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,314,678 (GRCm39) |
N273Y |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or10a3b |
A |
T |
7: 108,444,593 (GRCm39) |
M208K |
possibly damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,701 (GRCm39) |
C142S |
possibly damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,202 (GRCm39) |
H217L |
probably benign |
Het |
| Pcdhgc3 |
C |
G |
18: 37,940,925 (GRCm39) |
T442R |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,500,686 (GRCm39) |
N1468S |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,160,319 (GRCm39) |
|
probably null |
Het |
| Pitx2 |
C |
G |
3: 128,998,062 (GRCm39) |
|
probably null |
Het |
| Reck |
T |
A |
4: 43,922,895 (GRCm39) |
I390N |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,278,605 (GRCm39) |
N254S |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,222,217 (GRCm39) |
|
probably null |
Het |
| Scn8a |
A |
G |
15: 100,938,477 (GRCm39) |
T1949A |
probably damaging |
Het |
| Slc22a15 |
A |
T |
3: 101,768,168 (GRCm39) |
Y346* |
probably null |
Het |
| Slc24a5 |
A |
G |
2: 124,925,012 (GRCm39) |
T218A |
probably benign |
Het |
| Slc38a10 |
G |
A |
11: 120,020,138 (GRCm39) |
Q305* |
probably null |
Het |
| Slc45a4 |
G |
A |
15: 73,477,453 (GRCm39) |
P28S |
probably damaging |
Het |
| Smyd5 |
A |
T |
6: 85,417,244 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,786,494 (GRCm39) |
D403G |
probably damaging |
Het |
| Stx7 |
A |
G |
10: 24,060,883 (GRCm39) |
|
probably null |
Het |
| Svil |
T |
C |
18: 5,108,639 (GRCm39) |
S1522P |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,640,081 (GRCm39) |
T352M |
probably damaging |
Het |
| Tcf25 |
A |
T |
8: 124,111,114 (GRCm39) |
K192M |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,141,458 (GRCm39) |
G804S |
possibly damaging |
Het |
| Teddm1a |
C |
G |
1: 153,767,614 (GRCm39) |
S26C |
probably damaging |
Het |
| Usp13 |
C |
T |
3: 32,908,818 (GRCm39) |
P155S |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,489,571 (GRCm39) |
D451V |
possibly damaging |
Het |
| Vmn1r173 |
A |
G |
7: 23,402,254 (GRCm39) |
N163S |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,032,587 (GRCm39) |
C787F |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
| Zbtb40 |
T |
A |
4: 136,716,002 (GRCm39) |
I988F |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
| Zfp536 |
A |
T |
7: 37,179,161 (GRCm39) |
I84N |
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 |
|
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 |
|
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'- GGAAGTCCTCTATCTTCACATACTAC -3'
(R):5'- ATGATGCTGTCGAGGCAGATC -3'
Sequencing Primer
(F):5'- GCTTCACAGCTGAGAATGACTTG -3'
(R):5'- TGTCGAGGCAGATCCCCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation