Incidental Mutation 'R4738:Cep192'
| ID |
359473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep192
|
| Ensembl Gene |
ENSMUSG00000024542 |
| Gene Name |
centrosomal protein 192 |
| Synonyms |
D430014P18Rik, 4631422C13Rik |
| MMRRC Submission |
041964-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4738 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 68017901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 2500
(K2500*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
| AlphaFold |
E9Q4Y4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025425
AA Change: K2500*
|
| SMART Domains |
Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: K2500*
| 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: ENSMUST00000224921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225589
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,121,849 (GRCm39) |
I176T |
probably benign |
Het |
| Abtb3 |
C |
T |
10: 85,463,112 (GRCm39) |
Q626* |
probably null |
Het |
| Angpt2 |
C |
T |
8: 18,791,075 (GRCm39) |
D74N |
probably benign |
Het |
| Apol10a |
C |
T |
15: 77,372,841 (GRCm39) |
T159I |
possibly damaging |
Het |
| Areg |
T |
C |
5: 91,294,583 (GRCm39) |
I247T |
possibly damaging |
Het |
| Atg16l2 |
A |
G |
7: 100,946,385 (GRCm39) |
L129P |
probably damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,556,062 (GRCm39) |
S246T |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,678,251 (GRCm39) |
R882G |
probably benign |
Het |
| Atp9a |
A |
G |
2: 168,510,101 (GRCm39) |
V444A |
probably benign |
Het |
| Babam2 |
T |
A |
5: 32,058,486 (GRCm39) |
Y211N |
probably damaging |
Het |
| Ccdc127 |
T |
G |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,028,311 (GRCm39) |
N435S |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,564 (GRCm39) |
I620V |
probably damaging |
Het |
| Cyth4 |
G |
A |
15: 78,490,074 (GRCm39) |
M62I |
probably benign |
Het |
| Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,407,880 (GRCm39) |
R1984Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,132,666 (GRCm39) |
M1237V |
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,620,807 (GRCm39) |
Y513C |
probably damaging |
Het |
| Dph7 |
T |
C |
2: 24,853,143 (GRCm39) |
S86P |
possibly damaging |
Het |
| Eif3b |
T |
A |
5: 140,415,833 (GRCm39) |
M384K |
probably benign |
Het |
| Emc1 |
G |
T |
4: 139,089,513 (GRCm39) |
G227V |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,386,955 (GRCm39) |
|
probably null |
Het |
| Frzb |
A |
G |
2: 80,254,941 (GRCm39) |
|
probably null |
Het |
| Ganc |
T |
A |
2: 120,283,075 (GRCm39) |
V743D |
probably damaging |
Het |
| Gfpt1 |
C |
A |
6: 87,031,729 (GRCm39) |
|
probably benign |
Het |
| Gm3086 |
A |
T |
12: 70,016,155 (GRCm39) |
|
probably benign |
Het |
| Gsdmc2 |
A |
T |
15: 63,698,650 (GRCm39) |
Y315* |
probably null |
Het |
| Haus6 |
A |
G |
4: 86,518,986 (GRCm39) |
|
probably null |
Het |
| Hhip |
C |
T |
8: 80,719,199 (GRCm39) |
D443N |
probably damaging |
Het |
| Isg15 |
T |
C |
4: 156,284,319 (GRCm39) |
M70V |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,685,915 (GRCm39) |
N653S |
probably damaging |
Het |
| Klhdc1 |
G |
T |
12: 69,329,907 (GRCm39) |
R345S |
probably benign |
Het |
| Larp7 |
A |
G |
3: 127,339,694 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
A |
G |
19: 7,581,464 (GRCm39) |
V81A |
probably benign |
Het |
| Lhx9 |
A |
G |
1: 138,760,486 (GRCm39) |
L288P |
probably damaging |
Het |
| Mcpt9 |
T |
A |
14: 56,264,456 (GRCm39) |
H213L |
probably damaging |
Het |
| Met |
T |
C |
6: 17,491,540 (GRCm39) |
C101R |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,077,494 (GRCm39) |
S1846A |
probably damaging |
Het |
| Nr3c2 |
T |
C |
8: 77,635,936 (GRCm39) |
S346P |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,747,819 (GRCm39) |
D43N |
probably damaging |
Het |
| Or10h5 |
A |
G |
17: 33,434,784 (GRCm39) |
F178S |
probably benign |
Het |
| Or1e1c |
G |
T |
11: 73,266,176 (GRCm39) |
L200F |
possibly damaging |
Het |
| Or51e1 |
T |
A |
7: 102,359,378 (GRCm39) |
I304N |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,558 (GRCm39) |
I181V |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,201 (GRCm39) |
N178K |
probably damaging |
Het |
| Osbpl10 |
A |
G |
9: 115,045,642 (GRCm39) |
E426G |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,887,234 (GRCm39) |
V210A |
probably damaging |
Het |
| Pam |
A |
T |
1: 97,850,857 (GRCm39) |
V167D |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,784,582 (GRCm39) |
R143G |
probably benign |
Het |
| Pbx4 |
C |
T |
8: 70,317,619 (GRCm39) |
T201M |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,468 (GRCm39) |
C821R |
probably benign |
Het |
| Plekhg3 |
T |
C |
12: 76,623,688 (GRCm39) |
I976T |
probably damaging |
Het |
| Pold1 |
G |
A |
7: 44,190,753 (GRCm39) |
R304C |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,263,771 (GRCm39) |
T314A |
probably benign |
Het |
| Psph |
T |
C |
5: 129,846,450 (GRCm39) |
|
probably null |
Het |
| Ptprj |
G |
A |
2: 90,270,987 (GRCm39) |
P1247L |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,862,173 (GRCm39) |
E648G |
probably damaging |
Het |
| Ralgds |
A |
G |
2: 28,435,428 (GRCm39) |
E465G |
probably damaging |
Het |
| Rfng |
T |
C |
11: 120,674,790 (GRCm39) |
T67A |
probably damaging |
Het |
| Rps6kl1 |
G |
T |
12: 85,187,161 (GRCm39) |
F181L |
probably benign |
Het |
| Spata46 |
G |
A |
1: 170,139,455 (GRCm39) |
M151I |
possibly damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,454,914 (GRCm39) |
N124K |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,455,330 (GRCm39) |
A3064V |
possibly damaging |
Het |
| Tbc1d8 |
G |
A |
1: 39,441,959 (GRCm39) |
T211I |
possibly damaging |
Het |
| Tdpoz4 |
T |
C |
3: 93,704,396 (GRCm39) |
I231T |
probably damaging |
Het |
| Tff3 |
G |
A |
17: 31,346,483 (GRCm39) |
P30S |
probably benign |
Het |
| Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
| Tlk2 |
T |
A |
11: 105,147,708 (GRCm39) |
H369Q |
probably benign |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,569 (GRCm39) |
T14A |
probably damaging |
Het |
| Tspan17 |
T |
A |
13: 54,942,877 (GRCm39) |
C116* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,710,890 (GRCm39) |
|
probably benign |
Het |
| Tyr |
T |
C |
7: 87,141,855 (GRCm39) |
Y158C |
probably null |
Het |
| U2af1l4 |
G |
T |
7: 30,262,773 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,282,939 (GRCm39) |
D559V |
probably damaging |
Het |
| Wfikkn2 |
T |
A |
11: 94,129,902 (GRCm39) |
T80S |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,917,183 (GRCm39) |
|
probably null |
Het |
| Zfp521 |
T |
C |
18: 13,977,111 (GRCm39) |
K1101E |
possibly damaging |
Het |
| Zfp595 |
A |
T |
13: 67,465,229 (GRCm39) |
F345I |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,745,739 (GRCm39) |
R566S |
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 |
|
|
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'- AATGGTTCTTGGATGGAGCC -3'
(R):5'- GTACATGATATTTAGTGAGGGCTTCAG -3'
Sequencing Primer
(F):5'- CTTGGATGGAGCCTGTGC -3'
(R):5'- AGTGAGGGCTTCAGAAATAAATTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation