Incidental Mutation 'R8865:Cep192'
ID |
675901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep192
|
Ensembl Gene |
ENSMUSG00000024542 |
Gene Name |
centrosomal protein 192 |
Synonyms |
D430014P18Rik, 4631422C13Rik |
MMRRC Submission |
068681-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8865 (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 67967703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 729
(V729A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
AlphaFold |
E9Q4Y4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025425
AA Change: V729A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000025425 Gene: ENSMUSG00000024542 AA Change: V729A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
T |
A |
11: 50,672,571 (GRCm39) |
Y606* |
probably null |
Het |
Adgrb1 |
A |
G |
15: 74,415,507 (GRCm39) |
I696V |
possibly damaging |
Het |
Ass1 |
A |
G |
2: 31,410,407 (GRCm39) |
Q406R |
probably benign |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Ccdc148 |
T |
C |
2: 58,719,832 (GRCm39) |
K409R |
possibly damaging |
Het |
Ccnl1 |
A |
T |
3: 65,854,269 (GRCm39) |
S451T |
probably benign |
Het |
Cdc123 |
T |
C |
2: 5,800,235 (GRCm39) |
|
probably benign |
Het |
Chd6 |
G |
A |
2: 160,862,989 (GRCm39) |
A444V |
probably benign |
Het |
Chl1 |
A |
G |
6: 103,685,822 (GRCm39) |
K898E |
probably damaging |
Het |
Chrng |
T |
C |
1: 87,135,219 (GRCm39) |
V154A |
probably damaging |
Het |
Cog1 |
T |
G |
11: 113,549,324 (GRCm39) |
M799R |
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,647,483 (GRCm39) |
|
probably null |
Het |
Coro6 |
C |
A |
11: 77,359,917 (GRCm39) |
T366K |
probably damaging |
Het |
Cwh43 |
G |
A |
5: 73,598,702 (GRCm39) |
M640I |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,019,878 (GRCm39) |
E272G |
probably benign |
Het |
Cyp4f39 |
A |
G |
17: 32,702,271 (GRCm39) |
Y256C |
probably damaging |
Het |
Dbx2 |
G |
A |
15: 95,530,281 (GRCm39) |
R229* |
probably null |
Het |
Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
En1 |
G |
T |
1: 120,530,729 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
A |
3: 121,523,060 (GRCm39) |
V90E |
probably damaging |
Het |
Fam171a1 |
A |
G |
2: 3,226,940 (GRCm39) |
K691R |
probably damaging |
Het |
Foxp2 |
C |
T |
6: 15,415,093 (GRCm39) |
A609V |
unknown |
Het |
Hemgn |
A |
T |
4: 46,396,682 (GRCm39) |
S185T |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,151,294 (GRCm39) |
D33N |
probably benign |
Het |
Igfbp1 |
T |
A |
11: 7,151,929 (GRCm39) |
V244D |
probably damaging |
Het |
Insr |
A |
T |
8: 3,211,358 (GRCm39) |
D1160E |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,265,830 (GRCm39) |
Y795* |
probably null |
Het |
Krtap28-10 |
T |
C |
1: 83,019,808 (GRCm39) |
K111E |
unknown |
Het |
Lbx1 |
T |
G |
19: 45,223,605 (GRCm39) |
D21A |
probably benign |
Het |
Map6 |
G |
T |
7: 98,918,192 (GRCm39) |
A322S |
probably benign |
Het |
Mat1a |
T |
C |
14: 40,843,788 (GRCm39) |
Y336H |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 12,930,003 (GRCm39) |
I8V |
probably benign |
Het |
Med12l |
T |
C |
3: 58,979,303 (GRCm39) |
V276A |
probably benign |
Het |
Mettl17 |
A |
G |
14: 52,122,308 (GRCm39) |
|
probably benign |
Het |
Mllt1 |
T |
C |
17: 57,207,295 (GRCm39) |
D183G |
possibly damaging |
Het |
Msmb |
T |
A |
14: 31,872,217 (GRCm39) |
C69* |
probably null |
Het |
Mterf1a |
A |
G |
5: 3,941,425 (GRCm39) |
S148P |
probably damaging |
Het |
Mybl2 |
A |
G |
2: 162,922,653 (GRCm39) |
I583V |
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,455,520 (GRCm39) |
D91E |
probably benign |
Het |
Notch3 |
A |
G |
17: 32,341,090 (GRCm39) |
Y2221H |
probably benign |
Het |
Npat |
C |
A |
9: 53,481,940 (GRCm39) |
T1216N |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,215,115 (GRCm39) |
L226P |
probably damaging |
Het |
Or2j3 |
T |
A |
17: 38,615,872 (GRCm39) |
H160L |
probably damaging |
Het |
Or8k35 |
C |
A |
2: 86,424,744 (GRCm39) |
V143F |
possibly damaging |
Het |
Pawr |
T |
A |
10: 108,218,603 (GRCm39) |
Y170N |
probably damaging |
Het |
Pde12 |
T |
C |
14: 26,390,280 (GRCm39) |
D143G |
possibly damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,476 (GRCm39) |
I264T |
probably benign |
Het |
Pip5k1b |
A |
G |
19: 24,374,422 (GRCm39) |
L53P |
probably damaging |
Het |
Pknox1 |
T |
C |
17: 31,818,520 (GRCm39) |
I251T |
probably benign |
Het |
Plcxd1 |
A |
T |
5: 110,249,841 (GRCm39) |
|
probably benign |
Het |
Polr3c |
C |
T |
3: 96,622,517 (GRCm39) |
|
probably benign |
Het |
Pramel4 |
G |
C |
4: 143,795,052 (GRCm39) |
G483R |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,238,693 (GRCm39) |
L195P |
probably damaging |
Het |
Prss16 |
A |
T |
13: 22,187,175 (GRCm39) |
L465Q |
possibly damaging |
Het |
Psg25 |
G |
T |
7: 18,263,519 (GRCm39) |
H101Q |
possibly damaging |
Het |
Pstpip2 |
A |
G |
18: 77,934,108 (GRCm39) |
D55G |
possibly damaging |
Het |
Rfc1 |
A |
T |
5: 65,436,135 (GRCm39) |
D636E |
possibly damaging |
Het |
Scarf2 |
G |
T |
16: 17,620,974 (GRCm39) |
C214F |
probably damaging |
Het |
Sirt4 |
T |
C |
5: 115,620,704 (GRCm39) |
E156G |
probably damaging |
Het |
Spag6 |
C |
T |
2: 18,738,928 (GRCm39) |
S286L |
probably benign |
Het |
Stx17 |
T |
A |
4: 48,183,444 (GRCm39) |
H267Q |
unknown |
Het |
Tekt3 |
T |
C |
11: 62,961,058 (GRCm39) |
C76R |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,538,281 (GRCm39) |
V1807E |
possibly damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,396,372 (GRCm39) |
D552G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,560,664 (GRCm39) |
V29246L |
possibly damaging |
Het |
Usp43 |
C |
A |
11: 67,789,788 (GRCm39) |
C252F |
probably damaging |
Het |
Vmn2r16 |
T |
C |
5: 109,487,910 (GRCm39) |
I261T |
probably benign |
Het |
Vwa5b1 |
T |
C |
4: 138,308,530 (GRCm39) |
E769G |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,873,246 (GRCm39) |
F670Y |
probably benign |
Het |
Ypel1 |
T |
C |
16: 16,915,269 (GRCm39) |
N113S |
probably benign |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zdhhc14 |
A |
T |
17: 5,775,570 (GRCm39) |
Y274F |
possibly damaging |
Het |
Zeb2 |
T |
A |
2: 44,886,139 (GRCm39) |
M973L |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,954,035 (GRCm39) |
V1380A |
possibly 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 |
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 |
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 |
|
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'- ACATGTCCTTGTATGTAGAGTGAG -3'
(R):5'- TCAGATGTGCCTGCTCTTG -3'
Sequencing Primer
(F):5'- ACACTGTCTGGTGGTGAA -3'
(R):5'- CAGATGTGCCTGCTCTTGAAAGG -3'
|
Posted On |
2021-07-15 |