Incidental Mutation 'R7409:Cep192'
| ID |
574969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep192
|
| Ensembl Gene |
ENSMUSG00000024542 |
| Gene Name |
centrosomal protein 192 |
| Synonyms |
D430014P18Rik, 4631422C13Rik |
| MMRRC Submission |
045490-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 67967874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 786
(S786T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
| AlphaFold |
E9Q4Y4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025425
AA Change: S786T
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: S786T
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (82/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
| Aida |
A |
G |
1: 183,099,809 (GRCm39) |
T215A |
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,440,023 (GRCm39) |
S457P |
probably benign |
Het |
| Ap4b1 |
G |
A |
3: 103,719,474 (GRCm39) |
V63I |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,903,108 (GRCm39) |
V182A |
probably damaging |
Het |
| B4galnt4 |
G |
A |
7: 140,646,916 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
G |
T |
11: 78,159,583 (GRCm39) |
R544L |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 85,260,031 (GRCm39) |
D331E |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,419,423 (GRCm39) |
|
probably null |
Het |
| Cdkn1b |
A |
T |
6: 134,898,280 (GRCm39) |
Q133L |
probably benign |
Het |
| Cfap418 |
T |
A |
4: 10,881,834 (GRCm39) |
C94S |
probably benign |
Het |
| Cfap97 |
G |
A |
8: 46,645,733 (GRCm39) |
R537H |
probably benign |
Het |
| Clpx |
C |
G |
9: 65,231,529 (GRCm39) |
A552G |
possibly damaging |
Het |
| Cryl1 |
G |
A |
14: 57,523,842 (GRCm39) |
T240I |
probably damaging |
Het |
| Ddx60 |
C |
A |
8: 62,411,612 (GRCm39) |
T488K |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,181,259 (GRCm39) |
H805R |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,878,996 (GRCm39) |
D25G |
unknown |
Het |
| Dysf |
A |
C |
6: 84,126,664 (GRCm39) |
D1293A |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,347,121 (GRCm39) |
L549P |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,697 (GRCm39) |
|
probably benign |
Het |
| Eva1c |
A |
G |
16: 90,666,544 (GRCm39) |
K156E |
probably damaging |
Het |
| Fbxw10 |
T |
G |
11: 62,767,606 (GRCm39) |
V814G |
possibly damaging |
Het |
| Gfap |
C |
T |
11: 102,785,358 (GRCm39) |
R206Q |
probably benign |
Het |
| Gjb6 |
A |
T |
14: 57,361,610 (GRCm39) |
L217* |
probably null |
Het |
| Gpatch11 |
T |
A |
17: 79,146,595 (GRCm39) |
L80Q |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,238,727 (GRCm39) |
Q225R |
probably damaging |
Het |
| Gsdmc2 |
A |
G |
15: 63,705,195 (GRCm39) |
S173P |
possibly damaging |
Het |
| Hars1 |
C |
G |
18: 36,903,166 (GRCm39) |
R388P |
probably damaging |
Het |
| Ighm |
C |
T |
12: 113,385,852 (GRCm39) |
R129H |
|
Het |
| Igsf9 |
A |
G |
1: 172,322,841 (GRCm39) |
I602V |
probably benign |
Het |
| Inpp4b |
T |
G |
8: 82,679,314 (GRCm39) |
|
probably null |
Het |
| Itch |
C |
A |
2: 155,041,302 (GRCm39) |
T450K |
probably damaging |
Het |
| Kcnq1 |
T |
C |
7: 142,663,152 (GRCm39) |
F20L |
unknown |
Het |
| Kmt2d |
G |
T |
15: 98,753,235 (GRCm39) |
A153E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,398,263 (GRCm39) |
N750I |
probably damaging |
Het |
| Marveld2 |
T |
A |
13: 100,747,984 (GRCm39) |
H365L |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,803,687 (GRCm39) |
V200E |
probably damaging |
Het |
| Mrgbp |
T |
G |
2: 180,227,135 (GRCm39) |
S157A |
possibly damaging |
Het |
| Mrps35 |
A |
G |
6: 146,957,481 (GRCm39) |
T169A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,526,180 (GRCm39) |
Y551N |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,971 (GRCm39) |
R474G |
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,021,830 (GRCm39) |
S979R |
possibly damaging |
Het |
| Nlrp1a |
T |
C |
11: 71,013,634 (GRCm39) |
T539A |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,064,145 (GRCm39) |
D713E |
probably benign |
Het |
| Omt2b |
A |
C |
9: 78,235,894 (GRCm39) |
Y73S |
probably benign |
Het |
| Or10aa1 |
T |
A |
1: 173,870,099 (GRCm39) |
H194Q |
probably benign |
Het |
| Or13a27 |
C |
T |
7: 139,925,318 (GRCm39) |
V195I |
probably benign |
Het |
| Or6c38 |
A |
G |
10: 128,929,081 (GRCm39) |
I254T |
probably damaging |
Het |
| Or6c69 |
A |
T |
10: 129,748,120 (GRCm39) |
V9D |
possibly damaging |
Het |
| Pde11a |
G |
T |
2: 75,836,328 (GRCm39) |
Q20K |
|
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phrf1 |
C |
A |
7: 140,839,205 (GRCm39) |
T800K |
unknown |
Het |
| Polr1f |
T |
G |
12: 33,486,988 (GRCm39) |
C150W |
possibly damaging |
Het |
| Pramel4 |
T |
C |
4: 143,795,061 (GRCm39) |
S486P |
probably benign |
Het |
| Proc |
T |
C |
18: 32,260,513 (GRCm39) |
D204G |
probably benign |
Het |
| Rasgrp3 |
T |
A |
17: 75,823,411 (GRCm39) |
I494N |
possibly damaging |
Het |
| Samm50 |
A |
G |
15: 84,081,231 (GRCm39) |
D53G |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,116,217 (GRCm39) |
D22G |
possibly damaging |
Het |
| Scarf2 |
T |
C |
16: 17,624,918 (GRCm39) |
S658P |
probably damaging |
Het |
| Sfta2 |
T |
A |
17: 35,925,410 (GRCm39) |
I29K |
unknown |
Het |
| Slc15a4 |
A |
T |
5: 127,681,742 (GRCm39) |
S292T |
probably benign |
Het |
| Slc37a1 |
C |
T |
17: 31,559,237 (GRCm39) |
T439I |
probably damaging |
Het |
| Slc4a9 |
C |
A |
18: 36,663,858 (GRCm39) |
P294Q |
probably damaging |
Het |
| Slc52a3 |
T |
C |
2: 151,846,086 (GRCm39) |
S16P |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,244,163 (GRCm39) |
I468V |
probably benign |
Het |
| Spag17 |
T |
C |
3: 99,934,547 (GRCm39) |
S610P |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,941,475 (GRCm39) |
D738V |
probably benign |
Het |
| Ssbp4 |
T |
C |
8: 71,050,617 (GRCm39) |
R269G |
unknown |
Het |
| Tbl1xr1 |
A |
G |
3: 22,257,354 (GRCm39) |
T406A |
possibly damaging |
Het |
| Tep1 |
A |
T |
14: 51,104,312 (GRCm39) |
V194D |
possibly damaging |
Het |
| Thbs4 |
A |
T |
13: 92,909,767 (GRCm39) |
C343* |
probably null |
Het |
| Tmed10 |
A |
T |
12: 85,391,065 (GRCm39) |
S158T |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,524 (GRCm39) |
V38E |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,743,772 (GRCm39) |
M1258T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,589,320 (GRCm39) |
D21281G |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
| Vmn2r8 |
C |
A |
5: 108,956,449 (GRCm39) |
E58* |
probably null |
Het |
| Vps13d |
C |
T |
4: 144,867,824 (GRCm39) |
E2009K |
|
Het |
| Vps33b |
T |
C |
7: 79,935,017 (GRCm39) |
I320T |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,553,786 (GRCm39) |
Y143C |
probably damaging |
Het |
| Zfp213 |
C |
T |
17: 23,778,603 (GRCm39) |
|
probably null |
Het |
| Zfp219 |
A |
T |
14: 52,244,570 (GRCm39) |
Y536* |
probably null |
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 |
|
|
R4591:Cep192
|
UTSW |
18 |
67,968,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- GCCCAGCTTGTTACCATGATG -3'
(R):5'- CTGAATCTGAGGAGGCTATTGTTC -3'
Sequencing Primer
(F):5'- CCAGCTTGTTACCATGATGAAAGC -3'
(R):5'- CTAAGGGATTCTTGAGTATCACTCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation