Incidental Mutation 'R3508:Cep162'
ID |
267468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep162
|
Ensembl Gene |
ENSMUSG00000056919 |
Gene Name |
centrosomal protein 162 |
Synonyms |
4922501C03Rik |
MMRRC Submission |
040664-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3508 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
87071630-87137589 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 87114030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093802]
|
AlphaFold |
Q6ZQ06 |
Predicted Effect |
probably null
Transcript: ENSMUST00000093802
|
SMART Domains |
Protein: ENSMUSP00000091319 Gene: ENSMUSG00000056919
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,953,991 (GRCm39) |
F816L |
probably benign |
Het |
Adgrl3 |
C |
A |
5: 81,872,103 (GRCm39) |
N932K |
probably damaging |
Het |
Apol8 |
T |
C |
15: 77,633,643 (GRCm39) |
E311G |
probably damaging |
Het |
Atad2b |
G |
A |
12: 5,000,595 (GRCm39) |
|
probably null |
Het |
Carmil1 |
A |
G |
13: 24,203,659 (GRCm39) |
|
probably benign |
Het |
Cdc20b |
T |
C |
13: 113,217,576 (GRCm39) |
S332P |
possibly damaging |
Het |
Cfap54 |
T |
A |
10: 92,721,286 (GRCm39) |
S2482C |
unknown |
Het |
Cnpy1 |
T |
C |
5: 28,412,365 (GRCm39) |
E107G |
probably damaging |
Het |
Crtac1 |
C |
T |
19: 42,293,180 (GRCm39) |
V310I |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Elmo1 |
T |
C |
13: 20,789,402 (GRCm39) |
I706T |
probably damaging |
Het |
F12 |
T |
C |
13: 55,568,872 (GRCm39) |
T297A |
probably benign |
Het |
Fanci |
A |
G |
7: 79,083,220 (GRCm39) |
I736V |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,148,247 (GRCm39) |
N2667S |
probably benign |
Het |
Flt4 |
T |
C |
11: 49,524,941 (GRCm39) |
S596P |
probably damaging |
Het |
Fndc1 |
G |
A |
17: 7,983,940 (GRCm39) |
R1329* |
probably null |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
H2-M10.1 |
T |
G |
17: 36,636,506 (GRCm39) |
R99S |
possibly damaging |
Het |
Homer3 |
T |
A |
8: 70,744,005 (GRCm39) |
V243D |
probably benign |
Het |
Hspa14 |
A |
G |
2: 3,492,045 (GRCm39) |
S437P |
probably damaging |
Het |
Inpp1 |
A |
T |
1: 52,838,550 (GRCm39) |
I33N |
probably damaging |
Het |
Ipo5 |
T |
A |
14: 121,176,956 (GRCm39) |
Y714N |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,461,026 (GRCm39) |
E898G |
possibly damaging |
Het |
Klhdc7b |
T |
A |
15: 89,271,095 (GRCm39) |
M1K |
probably null |
Het |
Krt87 |
A |
G |
15: 101,386,039 (GRCm39) |
Y241H |
probably benign |
Het |
Mfsd4b1 |
A |
G |
10: 39,878,715 (GRCm39) |
I394T |
probably benign |
Het |
Micall1 |
A |
G |
15: 79,006,965 (GRCm39) |
D264G |
probably damaging |
Het |
Mms22l |
T |
G |
4: 24,586,224 (GRCm39) |
D905E |
probably benign |
Het |
Musk |
A |
G |
4: 58,327,347 (GRCm39) |
D217G |
probably damaging |
Het |
Napb |
T |
C |
2: 148,540,880 (GRCm39) |
T236A |
probably benign |
Het |
Nbn |
T |
A |
4: 15,962,387 (GRCm39) |
D38E |
probably damaging |
Het |
Ncaph |
T |
C |
2: 126,969,113 (GRCm39) |
N87D |
probably benign |
Het |
Or4a78 |
A |
G |
2: 89,497,816 (GRCm39) |
V138A |
probably benign |
Het |
Pcdhb13 |
T |
A |
18: 37,576,204 (GRCm39) |
V194E |
probably damaging |
Het |
Pck1 |
T |
C |
2: 173,000,177 (GRCm39) |
V536A |
possibly damaging |
Het |
Pld5 |
C |
T |
1: 175,821,603 (GRCm39) |
G188S |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
Pnkd |
A |
G |
1: 74,389,793 (GRCm39) |
T306A |
probably benign |
Het |
Ppm1k |
T |
C |
6: 57,491,975 (GRCm39) |
E279G |
probably damaging |
Het |
Ppm1l |
G |
T |
3: 69,456,813 (GRCm39) |
K243N |
possibly damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,838,801 (GRCm39) |
T26A |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,964,202 (GRCm39) |
V67A |
probably benign |
Het |
Rxfp4 |
T |
C |
3: 88,559,899 (GRCm39) |
E184G |
probably damaging |
Het |
Scp2d1 |
A |
G |
2: 144,665,918 (GRCm39) |
I86V |
probably benign |
Het |
Sec16a |
G |
T |
2: 26,315,862 (GRCm39) |
P1718Q |
probably damaging |
Het |
Sgcg |
T |
A |
14: 61,459,195 (GRCm39) |
T245S |
probably benign |
Het |
Slc18a2 |
A |
G |
19: 59,261,989 (GRCm39) |
T215A |
probably benign |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Sox17 |
G |
T |
1: 4,562,378 (GRCm39) |
P146Q |
probably damaging |
Het |
Spata31d1e |
A |
T |
13: 59,890,319 (GRCm39) |
Y500* |
probably null |
Het |
Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
Sybu |
T |
A |
15: 44,536,478 (GRCm39) |
E616V |
probably damaging |
Het |
Tk2 |
C |
T |
8: 104,957,825 (GRCm39) |
V174I |
probably benign |
Het |
Tmc5 |
G |
A |
7: 118,244,618 (GRCm39) |
V499I |
probably benign |
Het |
Tonsl |
T |
C |
15: 76,523,956 (GRCm39) |
T15A |
probably benign |
Het |
Ttll12 |
A |
G |
15: 83,464,831 (GRCm39) |
I448T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,584,101 (GRCm39) |
S22336P |
probably damaging |
Het |
Ubap1 |
C |
A |
4: 41,379,163 (GRCm39) |
H126N |
probably damaging |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,226,777 (GRCm39) |
N354D |
probably damaging |
Het |
Vpreb3 |
A |
C |
10: 75,785,037 (GRCm39) |
H45P |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,546,380 (GRCm39) |
Y160* |
probably null |
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 |
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'- AGCTCTAACTGTGGAGTTGATC -3'
(R):5'- TGTATGAGGTGATGCACAGG -3'
Sequencing Primer
(F):5'- CCAGGTGGGGTTTCATTTGATCAC -3'
(R):5'- CCACAGGTGTTCCTTATGGACAAAG -3'
|
Posted On |
2015-02-18 |