Incidental Mutation 'R7192:Cep192'
ID |
559694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep192
|
Ensembl Gene |
ENSMUSG00000024542 |
Gene Name |
centrosomal protein 192 |
Synonyms |
D430014P18Rik, 4631422C13Rik |
MMRRC Submission |
045333-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7192 (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 A
at 67983599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1553
(V1553E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
AlphaFold |
E9Q4Y4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025425
AA Change: V1553E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025425 Gene: ENSMUSG00000024542 AA Change: V1553E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (72/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
G |
A |
2: 30,686,188 (GRCm39) |
T329I |
probably damaging |
Het |
Actl6a |
C |
A |
3: 32,774,373 (GRCm39) |
P290H |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,055,723 (GRCm39) |
|
probably null |
Het |
Anxa2r2 |
T |
A |
13: 120,488,241 (GRCm39) |
K103* |
probably null |
Het |
Bach1 |
C |
T |
16: 87,526,551 (GRCm39) |
S671L |
possibly damaging |
Het |
Cacna1c |
T |
C |
6: 118,633,210 (GRCm39) |
I1099V |
|
Het |
Cage1 |
G |
T |
13: 38,203,220 (GRCm39) |
P615T |
probably benign |
Het |
Caskin2 |
C |
A |
11: 115,692,202 (GRCm39) |
R861L |
probably damaging |
Het |
Cc2d2b |
A |
G |
19: 40,762,881 (GRCm39) |
T386A |
unknown |
Het |
Ccndbp1 |
A |
G |
2: 120,843,424 (GRCm39) |
D272G |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,667,033 (GRCm39) |
H414L |
probably damaging |
Het |
Chrm5 |
C |
T |
2: 112,310,672 (GRCm39) |
G148D |
probably damaging |
Het |
Cntnap4 |
T |
C |
8: 113,608,432 (GRCm39) |
V1284A |
probably benign |
Het |
Cpd |
T |
C |
11: 76,705,667 (GRCm39) |
Y355C |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,567,633 (GRCm39) |
V1266I |
|
Het |
Cyfip2 |
T |
C |
11: 46,145,493 (GRCm39) |
E609G |
probably benign |
Het |
Dbr1 |
T |
C |
9: 99,458,755 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
T |
C |
18: 50,088,920 (GRCm39) |
Y2800H |
probably damaging |
Het |
Dnajc6 |
G |
T |
4: 101,455,000 (GRCm39) |
A64S |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,953,068 (GRCm39) |
N248I |
possibly damaging |
Het |
Dsp |
A |
T |
13: 38,379,569 (GRCm39) |
I2105F |
probably benign |
Het |
Edem1 |
G |
A |
6: 108,805,965 (GRCm39) |
V89M |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,761,890 (GRCm39) |
Q528R |
probably benign |
Het |
Epb42 |
A |
T |
2: 120,854,578 (GRCm39) |
V669D |
unknown |
Het |
Fat4 |
A |
T |
3: 39,034,613 (GRCm39) |
Q2755L |
probably benign |
Het |
Gata6 |
A |
G |
18: 11,054,475 (GRCm39) |
K135E |
possibly damaging |
Het |
Gmeb1 |
A |
T |
4: 131,955,201 (GRCm39) |
F325I |
probably benign |
Het |
H2-M10.3 |
C |
T |
17: 36,677,451 (GRCm39) |
E276K |
probably damaging |
Het |
H4c17 |
A |
T |
13: 21,996,227 (GRCm39) |
K92* |
probably null |
Het |
Ifi207 |
T |
C |
1: 173,556,584 (GRCm39) |
N718S |
not run |
Het |
Il6st |
A |
G |
13: 112,631,741 (GRCm39) |
N427D |
probably benign |
Het |
Kat7 |
T |
A |
11: 95,166,656 (GRCm39) |
M509L |
probably benign |
Het |
Klk1b4 |
T |
C |
7: 43,859,045 (GRCm39) |
V21A |
probably benign |
Het |
Malt1 |
T |
A |
18: 65,570,898 (GRCm39) |
L78Q |
probably benign |
Het |
Mertk |
A |
G |
2: 128,635,028 (GRCm39) |
|
probably null |
Het |
Myo1b |
A |
G |
1: 51,796,376 (GRCm39) |
L1016P |
probably damaging |
Het |
Neu4 |
A |
G |
1: 93,952,863 (GRCm39) |
I411V |
probably benign |
Het |
Nutm2 |
A |
T |
13: 50,627,105 (GRCm39) |
D420V |
probably damaging |
Het |
Or10j3b |
T |
A |
1: 173,043,575 (GRCm39) |
M119K |
probably damaging |
Het |
Or2w2 |
A |
G |
13: 21,758,539 (GRCm39) |
L29P |
probably damaging |
Het |
Or4k1 |
T |
C |
14: 50,377,577 (GRCm39) |
E173G |
possibly damaging |
Het |
Or5ac24 |
T |
C |
16: 59,165,542 (GRCm39) |
D174G |
probably benign |
Het |
Pcdha12 |
C |
T |
18: 37,153,316 (GRCm39) |
R12W |
probably benign |
Het |
Pdgfra |
G |
T |
5: 75,343,767 (GRCm39) |
D763Y |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,634,523 (GRCm39) |
V518A |
probably benign |
Het |
Prb1a |
G |
T |
6: 132,184,335 (GRCm39) |
P433T |
unknown |
Het |
Ptrh2 |
A |
G |
11: 86,580,835 (GRCm39) |
T151A |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,388,760 (GRCm39) |
N273K |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,717,638 (GRCm39) |
Y1154C |
probably benign |
Het |
Rps6kc1 |
T |
A |
1: 190,532,556 (GRCm39) |
D482V |
probably damaging |
Het |
Sec16b |
T |
C |
1: 157,357,013 (GRCm39) |
S74P |
probably benign |
Het |
Serpinb2 |
A |
T |
1: 107,452,306 (GRCm39) |
I295F |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,364,318 (GRCm39) |
D301E |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,149,348 (GRCm39) |
T1637I |
probably benign |
Het |
Slc27a4 |
A |
T |
2: 29,695,941 (GRCm39) |
N159Y |
probably damaging |
Het |
Stat1 |
A |
C |
1: 52,174,780 (GRCm39) |
K161Q |
possibly damaging |
Het |
Stc2 |
T |
C |
11: 31,319,872 (GRCm39) |
|
probably benign |
Het |
Strip1 |
A |
G |
3: 107,522,651 (GRCm39) |
W681R |
possibly damaging |
Het |
Sv2a |
G |
A |
3: 96,101,062 (GRCm39) |
G687S |
probably damaging |
Het |
Thnsl2 |
C |
T |
6: 71,116,739 (GRCm39) |
V138I |
probably benign |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Tnfrsf1a |
T |
C |
6: 125,338,559 (GRCm39) |
S235P |
unknown |
Het |
Tpbg |
T |
A |
9: 85,726,085 (GRCm39) |
L18* |
probably null |
Het |
Trabd2b |
A |
T |
4: 114,467,217 (GRCm39) |
Q482L |
possibly damaging |
Het |
Trim35 |
T |
A |
14: 66,534,895 (GRCm39) |
F126Y |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,658,288 (GRCm39) |
V12364D |
unknown |
Het |
Ubac2 |
A |
G |
14: 122,211,128 (GRCm39) |
Y166C |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,258,519 (GRCm39) |
V1320D |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,410,571 (GRCm39) |
Y2693N |
|
Het |
Utp20 |
A |
T |
10: 88,608,321 (GRCm39) |
M1572K |
probably benign |
Het |
Vmn1r7 |
C |
T |
6: 57,001,452 (GRCm39) |
M269I |
probably benign |
Het |
Vmn2r3 |
C |
T |
3: 64,167,364 (GRCm39) |
G589D |
probably benign |
Het |
Vrtn |
A |
T |
12: 84,695,636 (GRCm39) |
M129L |
probably damaging |
Het |
Zfp273 |
A |
T |
13: 67,973,183 (GRCm39) |
T104S |
possibly damaging |
Het |
Zfp384 |
T |
A |
6: 125,010,275 (GRCm39) |
N390K |
probably damaging |
Het |
Znfx1 |
A |
G |
2: 166,884,110 (GRCm39) |
M933T |
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 |
|
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 |
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'- ATACTGCTGAGAGCCTGGTCAC -3'
(R):5'- ATGATACCTGAAGTGAGGAGTTTC -3'
Sequencing Primer
(F):5'- AGAGCCTGGTCACACCTGTAC -3'
(R):5'- GTTTCTTTGGGCTATGGAAAATAACC -3'
|
Posted On |
2019-06-26 |