Incidental Mutation 'R1395:Cep192'
| ID |
162836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep192
|
| Ensembl Gene |
ENSMUSG00000024542 |
| Gene Name |
centrosomal protein 192 |
| Synonyms |
D430014P18Rik, 4631422C13Rik |
| MMRRC Submission |
039457-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1395 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67991992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1957
(T1957A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
| AlphaFold |
E9Q4Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025425
AA Change: T1957A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: T1957A
| 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: ENSMUST00000223715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224921
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225303
AA Change: T896A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225677
|
| Meta Mutation Damage Score |
0.4089 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,249,362 (GRCm39) |
Y122H |
probably damaging |
Het |
| A330070K13Rik |
A |
G |
5: 130,407,982 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,822,379 (GRCm39) |
R1406G |
probably benign |
Het |
| Adgrv1 |
G |
T |
13: 81,534,907 (GRCm39) |
T5786K |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,315,294 (GRCm39) |
F481S |
possibly damaging |
Het |
| Arhgap11a |
C |
T |
2: 113,663,467 (GRCm39) |
V939I |
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,037,058 (GRCm39) |
N561S |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,917,166 (GRCm39) |
H391R |
probably damaging |
Het |
| Asb3 |
T |
C |
11: 31,051,032 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,007,464 (GRCm39) |
|
probably benign |
Het |
| Ccdc85a |
T |
C |
11: 28,533,412 (GRCm39) |
K44R |
possibly damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,754 (GRCm39) |
R438Q |
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,640,400 (GRCm39) |
V519E |
probably damaging |
Het |
| Cylc2 |
A |
G |
4: 51,228,366 (GRCm39) |
K146E |
possibly damaging |
Het |
| Drgx |
C |
T |
14: 32,330,326 (GRCm39) |
P148S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,204,236 (GRCm39) |
|
probably null |
Het |
| Eef1a1 |
C |
T |
9: 78,386,300 (GRCm39) |
V402I |
probably benign |
Het |
| Esyt3 |
T |
C |
9: 99,198,835 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,314,945 (GRCm39) |
V79A |
possibly damaging |
Het |
| Fat3 |
C |
T |
9: 16,158,212 (GRCm39) |
V1133I |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,792,804 (GRCm39) |
H936R |
probably damaging |
Het |
| Fdxacb1 |
TAGAC |
T |
9: 50,683,796 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gm44511 |
G |
A |
6: 128,797,293 (GRCm39) |
S32L |
possibly damaging |
Het |
| Gm8374 |
G |
T |
14: 18,537,058 (GRCm39) |
N55K |
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,174,392 (GRCm39) |
I558N |
probably damaging |
Het |
| Gse1 |
G |
T |
8: 121,301,738 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,466,576 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
C |
9: 66,346,463 (GRCm39) |
I1943T |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,442,582 (GRCm39) |
|
probably benign |
Het |
| Ift81 |
G |
T |
5: 122,706,986 (GRCm39) |
D485E |
probably benign |
Het |
| Lactb |
T |
C |
9: 66,878,661 (GRCm39) |
|
probably benign |
Het |
| Map1a |
C |
T |
2: 121,134,406 (GRCm39) |
H1741Y |
probably benign |
Het |
| Map1lc3b |
T |
C |
8: 122,323,459 (GRCm39) |
Y110H |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,076,445 (GRCm39) |
D304G |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,802,714 (GRCm39) |
D386G |
probably damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,894,798 (GRCm39) |
|
probably null |
Het |
| Neto1 |
T |
C |
18: 86,416,144 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,426,809 (GRCm39) |
V1741A |
possibly damaging |
Het |
| Nkain2 |
C |
A |
10: 32,766,185 (GRCm39) |
|
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,469,309 (GRCm39) |
S109G |
probably damaging |
Het |
| Or51ah3 |
T |
C |
7: 103,210,326 (GRCm39) |
L214P |
possibly damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,414 (GRCm39) |
C243Y |
possibly damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,361 (GRCm39) |
T171S |
probably damaging |
Het |
| Or9s13 |
T |
A |
1: 92,548,267 (GRCm39) |
I213N |
probably benign |
Het |
| Phlpp1 |
T |
C |
1: 106,278,348 (GRCm39) |
V920A |
possibly damaging |
Het |
| Psen1 |
G |
A |
12: 83,771,346 (GRCm39) |
G209R |
probably damaging |
Het |
| Ralgapa2 |
T |
G |
2: 146,230,420 (GRCm39) |
K963N |
probably damaging |
Het |
| Rdh12 |
A |
G |
12: 79,255,839 (GRCm39) |
T9A |
probably benign |
Het |
| Rgma |
G |
T |
7: 73,067,542 (GRCm39) |
A360S |
probably benign |
Het |
| Sag |
G |
A |
1: 87,756,163 (GRCm39) |
V257I |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,657,721 (GRCm39) |
E386G |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,143,630 (GRCm39) |
E1055G |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,890 (GRCm39) |
E714G |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,573 (GRCm39) |
T191A |
probably benign |
Het |
| Tgm2 |
T |
A |
2: 157,966,172 (GRCm39) |
H494L |
probably benign |
Het |
| Tub |
C |
T |
7: 108,620,161 (GRCm39) |
R102* |
probably null |
Het |
| Ugt3a1 |
T |
G |
15: 9,306,378 (GRCm39) |
L176V |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,442,014 (GRCm39) |
I140L |
probably benign |
Het |
| Wdr44 |
T |
G |
X: 23,662,298 (GRCm39) |
C645G |
probably damaging |
Het |
| Wdr87-ps |
T |
A |
7: 29,230,812 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp322a |
C |
T |
13: 23,540,945 (GRCm39) |
V266I |
probably benign |
Het |
| Zfp663 |
T |
C |
2: 165,194,492 (GRCm39) |
R576G |
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 |
|
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 |
|
|
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'- ACAAGTGTTCTGTCTGTGGTCTCCTTA -3'
(R):5'- CTCCATTTTGCAACAAGAAGCATCCAG -3'
Sequencing Primer
(F):5'- AGTATCGTAGGACTGTTTATCCAGAG -3'
(R):5'- TATGCTCTAAGTATGTAGGAGCAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation