Incidental Mutation 'PIT4431001:Cep162'
ID |
555252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep162
|
Ensembl Gene |
ENSMUSG00000056919 |
Gene Name |
centrosomal protein 162 |
Synonyms |
4922501C03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
PIT4431001 (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 A
at 87126398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 171
(R171S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
AlphaFold |
Q6ZQ06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093802
AA Change: R171S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000091319 Gene: ENSMUSG00000056919 AA Change: R171S
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: 93.2%
- 3x: 90.7%
- 10x: 84.7%
- 20x: 71.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
A |
G |
5: 146,439,322 (GRCm39) |
I29V |
probably benign |
Het |
5730455P16Rik |
C |
A |
11: 80,254,750 (GRCm39) |
C357F |
probably damaging |
Het |
Actr1a |
A |
T |
19: 46,370,731 (GRCm39) |
|
probably null |
Het |
Adcy1 |
C |
G |
11: 7,014,089 (GRCm39) |
Q164E |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,295,536 (GRCm39) |
S1176R |
possibly damaging |
Het |
Atad2b |
A |
G |
12: 5,081,795 (GRCm39) |
T1235A |
possibly damaging |
Het |
Atosb |
C |
A |
4: 43,036,024 (GRCm39) |
G236C |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 59,892,075 (GRCm39) |
D1091G |
probably benign |
Het |
Bmp6 |
T |
C |
13: 38,669,906 (GRCm39) |
S397P |
probably benign |
Het |
C3 |
A |
T |
17: 57,513,242 (GRCm39) |
N1468K |
probably benign |
Het |
Ccnjl |
CGCG |
CGCGGCG |
11: 43,470,534 (GRCm39) |
|
probably benign |
Het |
Ccr1 |
T |
C |
9: 123,764,231 (GRCm39) |
I100V |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,455,706 (GRCm39) |
H994R |
probably damaging |
Het |
Cntn3 |
T |
A |
6: 102,441,527 (GRCm39) |
K6N |
probably benign |
Het |
Cope |
A |
G |
8: 70,765,417 (GRCm39) |
E289G |
probably damaging |
Het |
Cpne8 |
T |
G |
15: 90,436,178 (GRCm39) |
E279A |
probably damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,923,555 (GRCm39) |
|
probably null |
Het |
Dcp2 |
A |
G |
18: 44,545,638 (GRCm39) |
K333R |
probably benign |
Het |
Dpp6 |
G |
T |
5: 27,836,496 (GRCm39) |
V329F |
probably benign |
Het |
Drc1 |
T |
A |
5: 30,504,417 (GRCm39) |
D186E |
probably damaging |
Het |
Dsc2 |
G |
A |
18: 20,179,334 (GRCm39) |
Q245* |
probably null |
Het |
Eef1e1 |
T |
C |
13: 38,842,938 (GRCm39) |
E11G |
probably damaging |
Het |
Emilin2 |
G |
A |
17: 71,562,990 (GRCm39) |
P915S |
probably benign |
Het |
Fpgt |
A |
G |
3: 154,792,422 (GRCm39) |
M535T |
possibly damaging |
Het |
Fxyd3 |
G |
A |
7: 30,770,780 (GRCm39) |
L37F |
probably damaging |
Het |
Gal3st2c |
T |
A |
1: 93,935,834 (GRCm39) |
I62N |
probably damaging |
Het |
Gdpd3 |
T |
C |
7: 126,365,647 (GRCm39) |
I2T |
probably benign |
Het |
Gm9611 |
T |
C |
14: 42,115,888 (GRCm39) |
M169V |
|
Het |
Ints3 |
G |
A |
3: 90,303,767 (GRCm39) |
T720I |
probably damaging |
Het |
Itpr2 |
T |
G |
6: 146,256,218 (GRCm39) |
M992L |
probably benign |
Het |
L3mbtl2 |
T |
A |
15: 81,560,508 (GRCm39) |
H256Q |
probably benign |
Het |
Lama2 |
T |
C |
10: 26,977,426 (GRCm39) |
T1918A |
probably damaging |
Het |
Lpcat2b |
G |
A |
5: 107,581,997 (GRCm39) |
G442D |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,894,767 (GRCm39) |
V2268M |
|
Het |
Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
Mtr |
C |
T |
13: 12,227,329 (GRCm39) |
V772M |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,013,515 (GRCm39) |
T103A |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,159,853 (GRCm39) |
I294V |
possibly damaging |
Het |
Ncam1 |
A |
T |
9: 49,709,993 (GRCm39) |
F13I |
probably benign |
Het |
Or4a75 |
T |
C |
2: 89,448,201 (GRCm39) |
I112V |
probably benign |
Het |
Paqr6 |
A |
T |
3: 88,273,084 (GRCm39) |
I52F |
possibly damaging |
Het |
Pde2a |
T |
G |
7: 101,151,104 (GRCm39) |
V271G |
probably damaging |
Het |
Pde7b |
T |
C |
10: 20,276,291 (GRCm39) |
H405R |
possibly damaging |
Het |
Plxnb1 |
A |
G |
9: 108,929,786 (GRCm39) |
Y214C |
probably damaging |
Het |
Pmp22 |
T |
C |
11: 63,042,067 (GRCm39) |
F101L |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,188,318 (GRCm39) |
L520P |
probably damaging |
Het |
Pramel1 |
A |
G |
4: 143,124,960 (GRCm39) |
T295A |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,408,475 (GRCm39) |
I415N |
probably damaging |
Het |
Ptcd2 |
T |
A |
13: 99,476,527 (GRCm39) |
R71* |
probably null |
Het |
Ptgs1 |
A |
T |
2: 36,130,692 (GRCm39) |
N197I |
probably damaging |
Het |
Rbfox3 |
T |
C |
11: 118,386,047 (GRCm39) |
D333G |
probably damaging |
Het |
Rfx7 |
T |
A |
9: 72,525,253 (GRCm39) |
H814Q |
probably benign |
Het |
Rptn |
TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG |
TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG |
3: 93,304,704 (GRCm39) |
|
probably benign |
Het |
Serpina3i |
A |
T |
12: 104,231,432 (GRCm39) |
H23L |
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,443,290 (GRCm39) |
V860E |
probably benign |
Het |
Slc12a1 |
T |
A |
2: 125,032,124 (GRCm39) |
Y592N |
possibly damaging |
Het |
Slco2a1 |
T |
C |
9: 102,927,467 (GRCm39) |
F120S |
probably damaging |
Het |
Smyd4 |
T |
C |
11: 75,294,339 (GRCm39) |
F740S |
probably damaging |
Het |
Sppl2a |
T |
C |
2: 126,765,396 (GRCm39) |
Y242C |
probably damaging |
Het |
Sqle |
A |
G |
15: 59,195,509 (GRCm39) |
K288R |
probably benign |
Het |
Tbc1d17 |
A |
G |
7: 44,494,498 (GRCm39) |
S246P |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,688,642 (GRCm39) |
T2315M |
probably damaging |
Het |
Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
Thumpd3 |
T |
A |
6: 113,036,939 (GRCm39) |
N279K |
probably benign |
Het |
Tmed5 |
T |
A |
5: 108,277,887 (GRCm39) |
H95L |
possibly damaging |
Het |
Tmem161a |
T |
C |
8: 70,634,674 (GRCm39) |
L443P |
probably damaging |
Het |
Ttc38 |
C |
A |
15: 85,720,328 (GRCm39) |
Q97K |
probably benign |
Het |
Unc13c |
C |
A |
9: 73,656,829 (GRCm39) |
C1124F |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,896,958 (GRCm39) |
T102A |
possibly damaging |
Het |
Vwce |
G |
A |
19: 10,641,946 (GRCm39) |
E891K |
possibly damaging |
Het |
Xkr5 |
A |
T |
8: 18,984,361 (GRCm39) |
S394T |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,390,326 (GRCm39) |
C4747Y |
unknown |
Het |
Zfp804a |
T |
C |
2: 82,089,536 (GRCm39) |
F1122L |
probably benign |
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 |
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 |
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'- CTGCTTCTCGGAGAATCTCC -3'
(R):5'- GAGTTACCTGAGTCATGGGATGATAC -3'
Sequencing Primer
(F):5'- GAGAATCTCCCTGGACAACGTG -3'
(R):5'- CCTGAGTCATGGGATGATACATATAC -3'
|
Posted On |
2019-06-07 |