Incidental Mutation 'R4927:Cep192'
| ID |
380947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep192
|
| Ensembl Gene |
ENSMUSG00000024542 |
| Gene Name |
centrosomal protein 192 |
| Synonyms |
D430014P18Rik, 4631422C13Rik |
| MMRRC Submission |
042528-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4927 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67968195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 893
(V893A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
| AlphaFold |
E9Q4Y4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025425
AA Change: V893A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: V893A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
97% (76/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adamts2 |
T |
A |
11: 50,694,639 (GRCm39) |
L1142* |
probably null |
Het |
| Arl13b |
C |
A |
16: 62,622,150 (GRCm39) |
G381V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,892,641 (GRCm39) |
V1507F |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,859,408 (GRCm39) |
F38I |
probably benign |
Het |
| Bend4 |
T |
C |
5: 67,557,619 (GRCm39) |
Y399C |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,644,794 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
A |
T |
11: 94,319,973 (GRCm39) |
L1401Q |
probably damaging |
Het |
| Ccdc192 |
C |
T |
18: 57,863,888 (GRCm39) |
Q213* |
probably null |
Het |
| Cnot10 |
A |
T |
9: 114,447,012 (GRCm39) |
Y355N |
probably damaging |
Het |
| Col6a5 |
G |
C |
9: 105,811,163 (GRCm39) |
S785R |
unknown |
Het |
| Cpa3 |
A |
G |
3: 20,276,303 (GRCm39) |
L310P |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,015,152 (GRCm39) |
I247T |
probably benign |
Het |
| Dab1 |
A |
G |
4: 104,561,449 (GRCm39) |
T245A |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,985 (GRCm39) |
D315V |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,583,762 (GRCm39) |
L599* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,629,289 (GRCm39) |
I4231T |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,476,000 (GRCm39) |
V1659A |
probably damaging |
Het |
| Flot2 |
G |
A |
11: 77,949,888 (GRCm39) |
V406M |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,032,362 (GRCm39) |
D75G |
probably damaging |
Het |
| Gcnt3 |
A |
T |
9: 69,942,464 (GRCm39) |
C35S |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,052,118 (GRCm39) |
F199L |
probably benign |
Het |
| Gramd2b |
C |
T |
18: 56,618,523 (GRCm39) |
P244S |
probably damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,278,203 (GRCm39) |
L177P |
probably damaging |
Het |
| Homez |
T |
C |
14: 55,095,264 (GRCm39) |
E148G |
possibly damaging |
Het |
| Kcnab3 |
G |
A |
11: 69,217,572 (GRCm39) |
C22Y |
possibly damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,185,009 (GRCm39) |
S430R |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,692,798 (GRCm39) |
C125R |
probably benign |
Het |
| Klhl7 |
G |
A |
5: 24,346,185 (GRCm39) |
R277Q |
possibly damaging |
Het |
| Krt78 |
A |
G |
15: 101,855,334 (GRCm39) |
S826P |
probably benign |
Het |
| Krtap14 |
T |
C |
16: 88,622,919 (GRCm39) |
Y20C |
possibly damaging |
Het |
| Lrcol1 |
A |
G |
5: 110,502,163 (GRCm39) |
|
probably null |
Het |
| Lrrc10b |
G |
A |
19: 10,434,226 (GRCm39) |
P152S |
probably damaging |
Het |
| Lrrn3 |
C |
G |
12: 41,503,124 (GRCm39) |
D398H |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,749,932 (GRCm39) |
I1140V |
probably benign |
Het |
| Mos |
G |
A |
4: 3,871,093 (GRCm39) |
T241M |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,807,901 (GRCm39) |
E39G |
possibly damaging |
Het |
| Olfm1 |
T |
G |
2: 28,104,798 (GRCm39) |
S212A |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,633 (GRCm39) |
F35L |
probably damaging |
Het |
| Pip4p2 |
G |
T |
4: 14,912,458 (GRCm39) |
R189L |
probably damaging |
Het |
| Plec |
G |
T |
15: 76,061,162 (GRCm39) |
T2947K |
probably damaging |
Het |
| Pramel27 |
A |
T |
4: 143,578,187 (GRCm39) |
Q149L |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,823,350 (GRCm39) |
M474V |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,719,408 (GRCm39) |
Y4333C |
unknown |
Het |
| Scrn2 |
G |
C |
11: 96,924,326 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
C |
A |
19: 6,587,791 (GRCm39) |
V388L |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,526,866 (GRCm39) |
V754A |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,335,195 (GRCm39) |
F195S |
probably damaging |
Het |
| Slfn9 |
A |
C |
11: 82,872,216 (GRCm39) |
M840R |
possibly damaging |
Het |
| Speer4b |
T |
C |
5: 27,706,263 (GRCm39) |
N35D |
probably damaging |
Het |
| Taf1d |
T |
A |
9: 15,221,250 (GRCm39) |
D185E |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,475,213 (GRCm39) |
L245P |
probably damaging |
Het |
| Tent4a |
A |
T |
13: 69,651,019 (GRCm39) |
|
probably null |
Het |
| Ticam2 |
T |
C |
18: 46,693,846 (GRCm39) |
I80M |
probably damaging |
Het |
| Tmem268 |
G |
A |
4: 63,502,164 (GRCm39) |
V331I |
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,840,931 (GRCm39) |
E425G |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,654,133 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,107,489 (GRCm39) |
H601R |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,880,661 (GRCm39) |
M1L |
probably benign |
Het |
| Vmn2r120 |
G |
T |
17: 57,816,125 (GRCm39) |
N743K |
probably damaging |
Het |
| Wnt6 |
C |
A |
1: 74,823,295 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
A |
C |
1: 74,823,296 (GRCm39) |
|
probably null |
Het |
| Wnt8a |
T |
A |
18: 34,680,525 (GRCm39) |
C297S |
probably damaging |
Het |
| Zfp786 |
T |
C |
6: 47,797,087 (GRCm39) |
Q617R |
probably benign |
Het |
| Zfp91 |
A |
G |
19: 12,753,774 (GRCm39) |
|
probably null |
Het |
| Zw10 |
T |
A |
9: 48,979,983 (GRCm39) |
F371L |
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 |
|
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 |
|
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'- ACAGGAGTATGGTGAACGTTTG -3'
(R):5'- CAAGACCGTCTTCAAAGGTGAC -3'
Sequencing Primer
(F):5'- TGTGCTACTAATTCAAGGGAAGC -3'
(R):5'- CAAAGGTGACGTGCTTGTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation