Incidental Mutation 'R4591:Cep192'
| ID |
342871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep192
|
| Ensembl Gene |
ENSMUSG00000024542 |
| Gene Name |
centrosomal protein 192 |
| Synonyms |
D430014P18Rik, 4631422C13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4591 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67968039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 841
(N841I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
| AlphaFold |
E9Q4Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025425
AA Change: N841I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: N841I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1189 |
1204 |
N/A |
INTRINSIC |
|
low complexity region
|
2051 |
2069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225077
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
C |
3: 68,777,599 (GRCm39) |
S187P |
possibly damaging |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,959 (GRCm39) |
N59S |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,981,636 (GRCm39) |
D1030V |
probably damaging |
Het |
| Acmsd |
A |
T |
1: 127,676,934 (GRCm39) |
N153I |
probably damaging |
Het |
| Adprh |
C |
A |
16: 38,266,345 (GRCm39) |
V266L |
probably benign |
Het |
| Aldh5a1 |
G |
A |
13: 25,107,991 (GRCm39) |
P217S |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
| Alyref |
C |
T |
11: 120,486,799 (GRCm39) |
R154Q |
probably benign |
Het |
| Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
| Aox3 |
A |
T |
1: 58,191,815 (GRCm39) |
I456F |
probably damaging |
Het |
| Art4 |
A |
G |
6: 136,831,755 (GRCm39) |
Y129H |
probably damaging |
Het |
| Asb16 |
C |
A |
11: 102,167,551 (GRCm39) |
H306N |
probably damaging |
Het |
| Atp8a2 |
C |
A |
14: 59,892,078 (GRCm39) |
R1090L |
probably benign |
Het |
| Brap |
G |
T |
5: 121,800,113 (GRCm39) |
V1F |
probably null |
Het |
| C1qb |
C |
A |
4: 136,609,528 (GRCm39) |
G31W |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,275,425 (GRCm39) |
Y666H |
probably benign |
Het |
| Casr |
T |
C |
16: 36,320,732 (GRCm39) |
N472S |
probably benign |
Het |
| Ccdc91 |
T |
G |
6: 147,491,963 (GRCm39) |
S282A |
unknown |
Het |
| Cd300lg |
A |
G |
11: 101,937,006 (GRCm39) |
T164A |
probably benign |
Het |
| Cd79b |
A |
T |
11: 106,202,872 (GRCm39) |
D243E |
probably damaging |
Het |
| Cdh6 |
C |
A |
15: 13,051,572 (GRCm39) |
V354F |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,863,497 (GRCm39) |
N126S |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,980,012 (GRCm39) |
T963A |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,955,592 (GRCm39) |
|
probably null |
Het |
| Coro1a |
A |
G |
7: 126,302,164 (GRCm39) |
V61A |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,745,983 (GRCm39) |
D1712V |
probably damaging |
Het |
| Ddn |
T |
C |
15: 98,705,687 (GRCm39) |
D3G |
possibly damaging |
Het |
| Dnal1 |
T |
C |
12: 84,180,627 (GRCm39) |
F89S |
probably benign |
Het |
| Dusp3 |
T |
A |
11: 101,864,446 (GRCm39) |
|
probably benign |
Het |
| Dyrk3 |
C |
A |
1: 131,057,895 (GRCm39) |
G58C |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,479,279 (GRCm39) |
F2775S |
probably benign |
Het |
| Frk |
A |
G |
10: 34,481,829 (GRCm39) |
N373S |
probably benign |
Het |
| Glmn |
A |
G |
5: 107,708,917 (GRCm39) |
|
probably null |
Het |
| Gm11565 |
A |
T |
11: 99,805,769 (GRCm39) |
T54S |
possibly damaging |
Het |
| Gm14410 |
A |
G |
2: 176,885,820 (GRCm39) |
I148T |
possibly damaging |
Het |
| Gm21834 |
T |
A |
17: 58,048,880 (GRCm39) |
H112L |
possibly damaging |
Het |
| Gm5862 |
A |
G |
5: 26,224,486 (GRCm39) |
I161T |
possibly damaging |
Het |
| Grid2 |
G |
T |
6: 64,297,086 (GRCm39) |
G483V |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 106,995,533 (GRCm39) |
S1293T |
probably benign |
Het |
| Il1a |
G |
A |
2: 129,148,447 (GRCm39) |
R88W |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,357,043 (GRCm39) |
V29D |
possibly damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,139 (GRCm39) |
L463F |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,005,110 (GRCm39) |
E225G |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,366,419 (GRCm39) |
F227L |
probably damaging |
Het |
| Lrrc43 |
A |
G |
5: 123,639,227 (GRCm39) |
M419V |
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,030,837 (GRCm39) |
Q1247R |
unknown |
Het |
| Mamdc4 |
T |
A |
2: 25,454,609 (GRCm39) |
M1068L |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,707,636 (GRCm39) |
S1642A |
probably damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,539,365 (GRCm39) |
E102G |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,655,506 (GRCm39) |
E819G |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,349,345 (GRCm39) |
L38P |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,440,048 (GRCm39) |
R542G |
probably benign |
Het |
| Or10c1 |
C |
T |
17: 37,522,010 (GRCm39) |
V245I |
probably benign |
Het |
| Or4d2b |
A |
G |
11: 87,780,375 (GRCm39) |
S116P |
probably benign |
Het |
| Or5ac19 |
A |
C |
16: 59,089,776 (GRCm39) |
F85V |
possibly damaging |
Het |
| Or5b125-ps1 |
ACAC |
ACACGCAC |
19: 13,056,266 (GRCm39) |
|
noncoding transcript |
Het |
| Pbxip1 |
T |
A |
3: 89,353,467 (GRCm39) |
L249Q |
probably benign |
Het |
| Pla2g7 |
T |
C |
17: 43,911,450 (GRCm39) |
S201P |
probably damaging |
Het |
| Psmd1 |
G |
T |
1: 86,055,926 (GRCm39) |
V763F |
probably benign |
Het |
| Ptp4a2 |
A |
G |
4: 129,740,308 (GRCm39) |
E124G |
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
| Rbks |
T |
A |
5: 31,817,352 (GRCm39) |
K139M |
possibly damaging |
Het |
| Rgs22 |
T |
A |
15: 36,100,282 (GRCm39) |
E268D |
probably benign |
Het |
| Slc16a9 |
T |
G |
10: 70,118,710 (GRCm39) |
L343R |
probably damaging |
Het |
| Smagp |
T |
C |
15: 100,519,860 (GRCm39) |
I55V |
probably damaging |
Het |
| Sox13 |
T |
C |
1: 133,311,421 (GRCm39) |
S604G |
probably damaging |
Het |
| St6gal1 |
G |
T |
16: 23,140,044 (GRCm39) |
V72F |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,485,606 (GRCm39) |
V247A |
probably benign |
Het |
| Susd3 |
A |
T |
13: 49,384,736 (GRCm39) |
M217K |
possibly damaging |
Het |
| Tas2r129 |
T |
A |
6: 132,928,574 (GRCm39) |
N170K |
probably benign |
Het |
| Tmem245 |
C |
A |
4: 56,910,204 (GRCm39) |
A515S |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,817,791 (GRCm39) |
V259A |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,952,332 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,371,147 (GRCm39) |
R532H |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,646,916 (GRCm39) |
N529I |
possibly damaging |
Het |
| Zfp574 |
T |
C |
7: 24,778,969 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cep192 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Cep192
|
APN |
18 |
67,953,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00163:Cep192
|
APN |
18 |
68,013,871 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL00509:Cep192
|
APN |
18 |
67,991,939 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01012:Cep192
|
APN |
18 |
67,945,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01143:Cep192
|
APN |
18 |
67,937,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01302:Cep192
|
APN |
18 |
67,991,974 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01653:Cep192
|
APN |
18 |
67,986,043 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02202:Cep192
|
APN |
18 |
67,936,207 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02448:Cep192
|
APN |
18 |
68,002,518 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02494:Cep192
|
APN |
18 |
67,937,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02574:Cep192
|
APN |
18 |
67,974,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02624:Cep192
|
APN |
18 |
68,013,866 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02646:Cep192
|
APN |
18 |
67,995,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Cep192
|
APN |
18 |
67,991,921 (GRCm39) |
splice site |
probably benign |
|
|
IGL02684:Cep192
|
APN |
18 |
67,967,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02977:Cep192
|
APN |
18 |
67,985,976 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03000:Cep192
|
APN |
18 |
67,985,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03133:Cep192
|
APN |
18 |
67,943,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03139:Cep192
|
APN |
18 |
67,961,547 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03213:Cep192
|
APN |
18 |
67,998,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03250:Cep192
|
APN |
18 |
67,940,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03259:Cep192
|
APN |
18 |
67,953,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Cep192
|
UTSW |
18 |
67,983,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0180:Cep192
|
UTSW |
18 |
67,968,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Cep192
|
UTSW |
18 |
67,961,553 (GRCm39) |
splice site |
probably benign |
|
|
R0374:Cep192
|
UTSW |
18 |
67,951,954 (GRCm39) |
nonsense |
probably null |
|
|
R0420:Cep192
|
UTSW |
18 |
67,946,964 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0479:Cep192
|
UTSW |
18 |
67,991,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Cep192
|
UTSW |
18 |
67,940,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1024:Cep192
|
UTSW |
18 |
67,971,125 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1382:Cep192
|
UTSW |
18 |
67,989,370 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1394:Cep192
|
UTSW |
18 |
67,991,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Cep192
|
UTSW |
18 |
67,991,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Cep192
|
UTSW |
18 |
67,980,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Cep192
|
UTSW |
18 |
67,989,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Cep192
|
UTSW |
18 |
67,984,838 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1835:Cep192
|
UTSW |
18 |
67,937,494 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1978:Cep192
|
UTSW |
18 |
67,936,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2164:Cep192
|
UTSW |
18 |
67,953,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2180:Cep192
|
UTSW |
18 |
67,957,813 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2307:Cep192
|
UTSW |
18 |
67,946,970 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2442:Cep192
|
UTSW |
18 |
67,957,759 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2897:Cep192
|
UTSW |
18 |
67,988,341 (GRCm39) |
splice site |
probably null |
|
|
R2898:Cep192
|
UTSW |
18 |
67,988,341 (GRCm39) |
splice site |
probably null |
|
|
R2901:Cep192
|
UTSW |
18 |
68,002,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3433:Cep192
|
UTSW |
18 |
67,967,963 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3620:Cep192
|
UTSW |
18 |
67,962,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3621:Cep192
|
UTSW |
18 |
67,962,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3712:Cep192
|
UTSW |
18 |
67,953,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4559:Cep192
|
UTSW |
18 |
68,004,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4590:Cep192
|
UTSW |
18 |
67,949,862 (GRCm39) |
nonsense |
probably null |
|
|
R4604:Cep192
|
UTSW |
18 |
67,948,993 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4627:Cep192
|
UTSW |
18 |
67,945,440 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4725:Cep192
|
UTSW |
18 |
67,949,837 (GRCm39) |
missense |
probably benign |
|
|
R4738:Cep192
|
UTSW |
18 |
68,017,901 (GRCm39) |
nonsense |
probably null |
|
|
R4739:Cep192
|
UTSW |
18 |
67,984,803 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4927:Cep192
|
UTSW |
18 |
67,968,195 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4948:Cep192
|
UTSW |
18 |
67,949,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5090:Cep192
|
UTSW |
18 |
67,993,617 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5105:Cep192
|
UTSW |
18 |
67,999,612 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5154:Cep192
|
UTSW |
18 |
67,983,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5192:Cep192
|
UTSW |
18 |
67,968,075 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5735:Cep192
|
UTSW |
18 |
68,013,866 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5812:Cep192
|
UTSW |
18 |
67,984,808 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5869:Cep192
|
UTSW |
18 |
67,948,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5981:Cep192
|
UTSW |
18 |
67,993,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6131:Cep192
|
UTSW |
18 |
67,971,068 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6335:Cep192
|
UTSW |
18 |
67,967,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Cep192
|
UTSW |
18 |
67,945,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6861:Cep192
|
UTSW |
18 |
67,974,699 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7192:Cep192
|
UTSW |
18 |
67,983,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7264:Cep192
|
UTSW |
18 |
67,953,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Cep192
|
UTSW |
18 |
67,989,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7409:Cep192
|
UTSW |
18 |
67,967,874 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7696:Cep192
|
UTSW |
18 |
67,953,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7756:Cep192
|
UTSW |
18 |
67,989,384 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7758:Cep192
|
UTSW |
18 |
67,989,384 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8247:Cep192
|
UTSW |
18 |
67,974,188 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8695:Cep192
|
UTSW |
18 |
67,951,958 (GRCm39) |
nonsense |
probably null |
|
|
R8865:Cep192
|
UTSW |
18 |
67,967,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8935:Cep192
|
UTSW |
18 |
67,995,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Cep192
|
UTSW |
18 |
67,989,354 (GRCm39) |
nonsense |
probably null |
|
|
R9571:Cep192
|
UTSW |
18 |
67,952,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9581:Cep192
|
UTSW |
18 |
67,980,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Cep192
|
UTSW |
18 |
67,968,525 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9779:Cep192
|
UTSW |
18 |
67,968,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Cep192
|
UTSW |
18 |
67,971,027 (GRCm39) |
missense |
probably benign |
0.44 |
|
X0066:Cep192
|
UTSW |
18 |
67,945,520 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Cep192
|
UTSW |
18 |
68,014,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTGTGAAGGTGCACGAG -3'
(R):5'- ACACTGTTCTACGATGCTAAAGGAAG -3'
Sequencing Primer
(F):5'- GAGAGCCCCTTTCAAGAGCAG -3'
(R):5'- AGTAGTGAGTCACTCCTGGAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation