Incidental Mutation 'R4590:Cep192'
ID |
342790 |
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 # |
R4590 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 67949862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 315
(Y315*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
AlphaFold |
E9Q4Y4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025425
AA Change: Y315*
|
SMART Domains |
Protein: ENSMUSP00000025425 Gene: ENSMUSG00000024542 AA Change: Y315*
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
T |
A |
18: 36,716,697 (GRCm39) |
D201E |
probably damaging |
Het |
Ano10 |
T |
A |
9: 122,086,231 (GRCm39) |
Q398L |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,555,646 (GRCm39) |
L319* |
probably null |
Het |
Cacna1e |
T |
C |
1: 154,312,265 (GRCm39) |
M1575V |
possibly damaging |
Het |
Cndp2 |
C |
A |
18: 84,687,933 (GRCm39) |
V353F |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,184,028 (GRCm39) |
N298I |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,129,695 (GRCm39) |
C1173S |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,931,218 (GRCm39) |
M1993V |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,363,237 (GRCm39) |
V3933A |
probably damaging |
Het |
Dnpep |
C |
A |
1: 75,293,045 (GRCm39) |
V76L |
probably damaging |
Het |
Dsc3 |
A |
C |
18: 20,122,752 (GRCm39) |
C57W |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,028,564 (GRCm39) |
S222P |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,803,600 (GRCm39) |
Y1009C |
possibly damaging |
Het |
Fam169a |
A |
G |
13: 97,234,093 (GRCm39) |
I122V |
probably benign |
Het |
Fgr |
T |
A |
4: 132,722,364 (GRCm39) |
V211E |
probably damaging |
Het |
Flvcr1 |
T |
C |
1: 190,744,343 (GRCm39) |
T402A |
probably benign |
Het |
Frmd5 |
C |
T |
2: 121,595,512 (GRCm39) |
|
probably null |
Het |
Fut2 |
T |
C |
7: 45,300,370 (GRCm39) |
N134S |
possibly damaging |
Het |
Gm10110 |
A |
T |
14: 90,134,982 (GRCm39) |
|
noncoding transcript |
Het |
Gm7275 |
A |
T |
16: 47,893,982 (GRCm39) |
|
noncoding transcript |
Het |
Gm904 |
T |
A |
13: 50,799,285 (GRCm39) |
C81* |
probably null |
Het |
Herc1 |
T |
A |
9: 66,344,946 (GRCm39) |
V1913E |
probably damaging |
Het |
Hnmt |
T |
C |
2: 23,909,111 (GRCm39) |
|
probably null |
Het |
Ift172 |
T |
C |
5: 31,411,299 (GRCm39) |
E1643G |
probably damaging |
Het |
Inpp4b |
T |
A |
8: 82,468,040 (GRCm39) |
M1K |
probably null |
Het |
Keap1 |
G |
T |
9: 21,148,905 (GRCm39) |
A34D |
probably damaging |
Het |
Krt25 |
T |
C |
11: 99,208,854 (GRCm39) |
|
probably benign |
Het |
Lama2 |
A |
G |
10: 26,865,410 (GRCm39) |
V2916A |
probably benign |
Het |
Ly9 |
G |
A |
1: 171,421,443 (GRCm39) |
Q603* |
probably null |
Het |
Mis18bp1 |
A |
C |
12: 65,205,280 (GRCm39) |
N14K |
possibly damaging |
Het |
Mmrn1 |
G |
T |
6: 60,937,797 (GRCm39) |
C265F |
probably damaging |
Het |
Mrgprb5 |
C |
T |
7: 47,817,809 (GRCm39) |
E309K |
probably benign |
Het |
Nrtn |
T |
C |
17: 57,058,504 (GRCm39) |
T166A |
probably damaging |
Het |
Odr4 |
A |
G |
1: 150,262,103 (GRCm39) |
|
probably null |
Het |
Or8g50 |
T |
C |
9: 39,648,146 (GRCm39) |
F12L |
probably damaging |
Het |
Osbpl7 |
T |
A |
11: 96,947,098 (GRCm39) |
S266R |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,555,549 (GRCm39) |
I293T |
probably damaging |
Het |
Pes1 |
A |
G |
11: 3,927,986 (GRCm39) |
Y546C |
probably damaging |
Het |
Pth1r |
A |
T |
9: 110,551,339 (GRCm39) |
W587R |
probably benign |
Het |
Rasgrf2 |
A |
G |
13: 92,174,789 (GRCm39) |
Y147H |
probably damaging |
Het |
Rbbp8 |
T |
A |
18: 11,865,322 (GRCm39) |
L737* |
probably null |
Het |
Rcor3 |
A |
T |
1: 191,810,217 (GRCm39) |
F153L |
probably damaging |
Het |
Rev3l |
G |
A |
10: 39,682,929 (GRCm39) |
C349Y |
probably damaging |
Het |
Rnf115 |
C |
T |
3: 96,695,889 (GRCm39) |
T225M |
probably benign |
Het |
Rnf157 |
A |
G |
11: 116,250,098 (GRCm39) |
V200A |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,372,917 (GRCm39) |
T653A |
probably benign |
Het |
Sdccag8 |
T |
C |
1: 176,775,858 (GRCm39) |
Y590H |
probably damaging |
Het |
Sema4d |
T |
A |
13: 51,877,654 (GRCm39) |
K59N |
probably benign |
Het |
Serpinb7 |
C |
A |
1: 107,379,563 (GRCm39) |
H323Q |
probably damaging |
Het |
Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
Sgk3 |
T |
C |
1: 9,969,020 (GRCm39) |
S466P |
possibly damaging |
Het |
Sgsm2 |
T |
C |
11: 74,741,958 (GRCm39) |
M1011V |
probably damaging |
Het |
Ssc4d |
G |
A |
5: 135,993,538 (GRCm39) |
P106L |
probably benign |
Het |
Taf7 |
T |
C |
18: 37,775,784 (GRCm39) |
Q261R |
possibly damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,152,553 (GRCm39) |
K71R |
possibly damaging |
Het |
Tff3 |
C |
T |
17: 31,348,508 (GRCm39) |
V15I |
probably benign |
Het |
Tgfb3 |
C |
A |
12: 86,124,589 (GRCm39) |
V40L |
possibly damaging |
Het |
Timm10 |
T |
A |
2: 84,657,992 (GRCm39) |
D2E |
possibly damaging |
Het |
Ttc16 |
T |
A |
2: 32,663,753 (GRCm39) |
N74I |
probably damaging |
Het |
Ttll1 |
G |
A |
15: 83,381,546 (GRCm39) |
T241I |
probably damaging |
Het |
Uba6 |
T |
A |
5: 86,260,603 (GRCm39) |
D992V |
probably damaging |
Het |
Vmn1r25 |
T |
A |
6: 57,955,480 (GRCm39) |
T270S |
probably benign |
Het |
Vmn2r106 |
T |
C |
17: 20,497,728 (GRCm39) |
I504V |
probably damaging |
Het |
Vmn2r87 |
G |
T |
10: 130,315,014 (GRCm39) |
H191N |
possibly damaging |
Het |
Vnn1 |
C |
A |
10: 23,775,303 (GRCm39) |
F184L |
possibly damaging |
Het |
Vtn |
A |
T |
11: 78,393,032 (GRCm39) |
I466F |
probably damaging |
Het |
Zfp352 |
A |
C |
4: 90,112,772 (GRCm39) |
D304A |
probably damaging |
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 |
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 |
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'- CTTGCTTCCAACCTGCAGAATAC -3'
(R):5'- AGCACACGTTTAAAGCCAAG -3'
Sequencing Primer
(F):5'- CCTGCAGAATACGTCAGATGGATAC -3'
(R):5'- GCACACGTTTAAAGCCAAGAAAATG -3'
|
Posted On |
2015-09-24 |