Incidental Mutation 'R7397:Cep192'
| ID |
573938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep192
|
| Ensembl Gene |
ENSMUSG00000024542 |
| Gene Name |
centrosomal protein 192 |
| Synonyms |
D430014P18Rik, 4631422C13Rik |
| MMRRC Submission |
045479-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67989268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1805
(I1805T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
| AlphaFold |
E9Q4Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025425
AA Change: I1805T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: I1805T
| 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 |
|
| Meta Mutation Damage Score |
0.5714 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
T |
C |
2: 155,845,848 (GRCm39) |
H3R |
unknown |
Het |
| Adam18 |
T |
A |
8: 25,136,321 (GRCm39) |
E400V |
possibly damaging |
Het |
| Ak5 |
A |
T |
3: 152,183,989 (GRCm39) |
F473I |
probably damaging |
Het |
| Arhgef10l |
G |
A |
4: 140,290,115 (GRCm39) |
P486S |
probably damaging |
Het |
| Asphd1 |
T |
A |
7: 126,548,001 (GRCm39) |
R101W |
possibly damaging |
Het |
| Bhlha15 |
G |
A |
5: 144,128,223 (GRCm39) |
E112K |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,961,364 (GRCm39) |
D198E |
possibly damaging |
Het |
| Carmil1 |
G |
T |
13: 24,228,294 (GRCm39) |
P961T |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,554,282 (GRCm39) |
S659P |
possibly damaging |
Het |
| Cdh3 |
C |
T |
8: 107,263,241 (GRCm39) |
R97* |
probably null |
Het |
| Cep250 |
T |
G |
2: 155,823,331 (GRCm39) |
L995R |
probably damaging |
Het |
| Cfap276 |
T |
A |
3: 108,450,864 (GRCm39) |
I102N |
probably benign |
Het |
| Cfap53 |
T |
C |
18: 74,416,294 (GRCm39) |
V9A |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,452,469 (GRCm39) |
K809E |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,559,130 (GRCm39) |
T1467A |
|
Het |
| Ctla2a |
T |
A |
13: 61,083,463 (GRCm39) |
R60S |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,350,014 (GRCm39) |
D22E |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,948,532 (GRCm39) |
E109V |
probably benign |
Het |
| Dgka |
G |
A |
10: 128,556,594 (GRCm39) |
P701S |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,354,504 (GRCm39) |
I3089F |
possibly damaging |
Het |
| Dock2 |
T |
A |
11: 34,609,816 (GRCm39) |
D208V |
probably benign |
Het |
| Fnbp1l |
G |
T |
3: 122,338,286 (GRCm39) |
Q520K |
probably benign |
Het |
| Foxc1 |
A |
G |
13: 31,991,618 (GRCm39) |
D143G |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,815,601 (GRCm39) |
R3778Q |
possibly damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,969,508 (GRCm39) |
C4S |
probably damaging |
Het |
| Gpt |
C |
A |
15: 76,582,717 (GRCm39) |
T294K |
probably benign |
Het |
| Hsd17b4 |
G |
T |
18: 50,279,491 (GRCm39) |
G157C |
probably damaging |
Het |
| Iars1 |
G |
A |
13: 49,882,153 (GRCm39) |
E1066K |
probably benign |
Het |
| Ifih1 |
G |
A |
2: 62,453,832 (GRCm39) |
T260I |
possibly damaging |
Het |
| Ighv5-8 |
TATATATATATATATATATATA |
TATATATATATATATATATATATA |
12: 113,618,565 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
T |
A |
10: 6,922,244 (GRCm39) |
*338R |
probably null |
Het |
| Kif20a |
A |
G |
18: 34,760,729 (GRCm39) |
T166A |
probably damaging |
Het |
| Map3k1 |
G |
A |
13: 111,891,742 (GRCm39) |
A1171V |
probably damaging |
Het |
| Map3k21 |
T |
C |
8: 126,661,855 (GRCm39) |
F484S |
probably damaging |
Het |
| Mbnl1 |
A |
T |
3: 60,523,051 (GRCm39) |
Q180L |
probably benign |
Het |
| Mmp2 |
T |
C |
8: 93,562,755 (GRCm39) |
F331L |
possibly damaging |
Het |
| Ms4a7 |
G |
T |
19: 11,298,916 (GRCm39) |
H257N |
probably benign |
Het |
| Mtbp |
T |
A |
15: 55,432,547 (GRCm39) |
S285T |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,058,220 (GRCm39) |
D70E |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,562,068 (GRCm39) |
N852S |
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,510,429 (GRCm39) |
F574Y |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,457,100 (GRCm39) |
I2322T |
possibly damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,523,899 (GRCm39) |
L527P |
probably damaging |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,621 (GRCm39) |
W142R |
probably damaging |
Het |
| Nxnl1 |
C |
T |
8: 72,019,105 (GRCm39) |
G40D |
probably damaging |
Het |
| Or52n1 |
C |
T |
7: 104,382,815 (GRCm39) |
C252Y |
possibly damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,115 (GRCm39) |
T45M |
probably benign |
Het |
| Otof |
A |
T |
5: 30,533,051 (GRCm39) |
W1564R |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,850,327 (GRCm39) |
Y778C |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,617,624 (GRCm39) |
|
probably null |
Het |
| Pdpr |
T |
A |
8: 111,839,385 (GRCm39) |
N169K |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,762,641 (GRCm39) |
V1379F |
possibly damaging |
Het |
| Ppp4r1 |
T |
G |
17: 66,144,786 (GRCm39) |
I801S |
probably benign |
Het |
| Ppp4r4 |
A |
T |
12: 103,579,065 (GRCm39) |
|
probably null |
Het |
| Prl2c5 |
A |
G |
13: 13,366,327 (GRCm39) |
D202G |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,305,237 (GRCm39) |
T323A |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,036,010 (GRCm39) |
M501T |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,729,718 (GRCm39) |
M310T |
probably benign |
Het |
| Rdh1 |
A |
T |
10: 127,596,047 (GRCm39) |
I81F |
probably benign |
Het |
| Rock1 |
C |
T |
18: 10,097,599 (GRCm39) |
A730T |
possibly damaging |
Het |
| Rsl1 |
C |
T |
13: 67,330,101 (GRCm39) |
T183I |
possibly damaging |
Het |
| Scyl3 |
T |
C |
1: 163,778,487 (GRCm39) |
|
probably null |
Het |
| Snap29 |
T |
C |
16: 17,237,236 (GRCm39) |
F116L |
probably damaging |
Het |
| Syt5 |
A |
T |
7: 4,545,395 (GRCm39) |
|
probably null |
Het |
| Tat |
T |
C |
8: 110,724,200 (GRCm39) |
L363P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,601,316 (GRCm39) |
V18719A |
possibly damaging |
Het |
| Ube2e2 |
T |
A |
14: 18,630,339 (GRCm38) |
D107V |
probably damaging |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,013 (GRCm39) |
S177P |
possibly damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,282,947 (GRCm39) |
W214R |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,800,498 (GRCm39) |
F615I |
probably damaging |
Het |
| Vmn2r91 |
G |
T |
17: 18,356,060 (GRCm39) |
V576L |
probably benign |
Het |
| Vsig10l |
A |
C |
7: 43,117,431 (GRCm39) |
T573P |
probably damaging |
Het |
| Wdr93 |
A |
G |
7: 79,416,172 (GRCm39) |
Q276R |
probably null |
Het |
| Zc3h7b |
T |
C |
15: 81,653,354 (GRCm39) |
V86A |
possibly damaging |
Het |
| Zeb1 |
T |
A |
18: 5,761,394 (GRCm39) |
Y231N |
probably damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,944 (GRCm39) |
K390E |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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'- CAGACCATTTGTTGTTTAATGTGTC -3'
(R):5'- GCAATGGTTATAACTTCATGGAAGA -3'
Sequencing Primer
(F):5'- ACCCAGGGTCTTATAACTGCTAGG -3'
(R):5'- GATCGACTTCCAAGTTGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation