Incidental Mutation 'R9599:Cep192'
ID |
723498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep192
|
Ensembl Gene |
ENSMUSG00000024542 |
Gene Name |
centrosomal protein 192 |
Synonyms |
D430014P18Rik, 4631422C13Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9599 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67968525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 973
(D973G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
AlphaFold |
E9Q4Y4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025425
AA Change: D973G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000025425 Gene: ENSMUSG00000024542 AA Change: D973G
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: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,774,267 (GRCm39) |
N1152S |
probably benign |
Het |
Abcb6 |
A |
T |
1: 75,151,372 (GRCm39) |
Y518N |
possibly damaging |
Het |
Actr2 |
G |
A |
11: 20,030,745 (GRCm39) |
P168S |
probably damaging |
Het |
Adam12 |
A |
G |
7: 133,566,454 (GRCm39) |
V332A |
probably damaging |
Het |
Adam23 |
T |
C |
1: 63,620,359 (GRCm39) |
I805T |
probably benign |
Het |
Adar |
A |
G |
3: 89,654,516 (GRCm39) |
T883A |
probably benign |
Het |
Aldh3a1 |
A |
G |
11: 61,107,912 (GRCm39) |
T319A |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,083,269 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
C |
A |
8: 3,482,718 (GRCm39) |
A141E |
possibly damaging |
Het |
Bub3 |
A |
G |
7: 131,170,428 (GRCm39) |
T317A |
probably benign |
Het |
Ccdc102a |
A |
G |
8: 95,639,901 (GRCm39) |
L131P |
probably damaging |
Het |
Ccdc60 |
C |
A |
5: 116,269,265 (GRCm39) |
D452Y |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,219,381 (GRCm39) |
E125G |
probably damaging |
Het |
Ccdc68 |
A |
G |
18: 70,093,492 (GRCm39) |
E233G |
probably damaging |
Het |
Cox5b |
T |
A |
1: 36,730,759 (GRCm39) |
M31K |
probably benign |
Het |
Cse1l |
A |
G |
2: 166,783,386 (GRCm39) |
N780S |
probably benign |
Het |
Cyfip1 |
T |
C |
7: 55,563,277 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
C |
T |
9: 57,607,770 (GRCm39) |
P133S |
probably benign |
Het |
Dcp1a |
A |
G |
14: 30,241,497 (GRCm39) |
M436V |
probably benign |
Het |
Dcst1 |
G |
T |
3: 89,265,075 (GRCm39) |
Y258* |
probably null |
Het |
Dhx30 |
T |
C |
9: 109,914,518 (GRCm39) |
E993G |
possibly damaging |
Het |
Disc1 |
A |
T |
8: 125,814,261 (GRCm39) |
M42L |
possibly damaging |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Entrep3 |
A |
G |
3: 89,094,099 (GRCm39) |
D304G |
possibly damaging |
Het |
Erbb2 |
A |
T |
11: 98,318,216 (GRCm39) |
D484V |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,543,469 (GRCm39) |
N657D |
probably benign |
Het |
Gbx2 |
T |
C |
1: 89,856,635 (GRCm39) |
T252A |
probably damaging |
Het |
Gdap2 |
A |
T |
3: 100,078,264 (GRCm39) |
N76I |
probably damaging |
Het |
Gm20939 |
A |
G |
17: 95,184,666 (GRCm39) |
Y438C |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,540,459 (GRCm39) |
E126G |
possibly damaging |
Het |
Gsg1 |
T |
G |
6: 135,217,098 (GRCm39) |
H246P |
probably damaging |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Ighv1-62-1 |
T |
C |
12: 115,350,601 (GRCm39) |
Q22R |
possibly damaging |
Het |
Kcng3 |
A |
T |
17: 83,895,211 (GRCm39) |
F418L |
probably benign |
Het |
Lin54 |
C |
A |
5: 100,598,546 (GRCm39) |
R593L |
probably damaging |
Het |
Lrp1 |
T |
A |
10: 127,410,246 (GRCm39) |
N1500I |
probably damaging |
Het |
Lvrn |
A |
C |
18: 46,999,494 (GRCm39) |
S287R |
probably benign |
Het |
Mab21l4 |
T |
C |
1: 93,087,568 (GRCm39) |
E95G |
possibly damaging |
Het |
Madd |
G |
A |
2: 91,006,026 (GRCm39) |
P390S |
probably damaging |
Het |
Mapk8ip3 |
C |
A |
17: 25,118,124 (GRCm39) |
R1281L |
probably damaging |
Het |
Masp1 |
T |
A |
16: 23,271,698 (GRCm39) |
T618S |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,248,445 (GRCm39) |
T116A |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mrpl39 |
A |
G |
16: 84,527,359 (GRCm39) |
F176S |
probably damaging |
Het |
Myt1l |
T |
C |
12: 29,943,441 (GRCm39) |
I953T |
unknown |
Het |
Nedd4l |
A |
G |
18: 65,343,400 (GRCm39) |
H820R |
probably damaging |
Het |
Nxpe3 |
A |
T |
16: 55,664,855 (GRCm39) |
V455D |
probably damaging |
Het |
Olfm4 |
T |
C |
14: 80,243,747 (GRCm39) |
F105S |
probably damaging |
Het |
Or10ak8 |
C |
T |
4: 118,773,851 (GRCm39) |
R271Q |
probably benign |
Het |
Patz1 |
A |
G |
11: 3,240,720 (GRCm39) |
N36S |
probably benign |
Het |
Peg3 |
T |
A |
7: 6,714,723 (GRCm39) |
K166N |
probably damaging |
Het |
Pes1 |
T |
A |
11: 3,926,118 (GRCm39) |
D302E |
probably benign |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Plekhh3 |
G |
A |
11: 101,054,972 (GRCm39) |
T627M |
unknown |
Het |
Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
Rnf20 |
T |
C |
4: 49,638,751 (GRCm39) |
V191A |
probably benign |
Het |
Scn8a |
A |
T |
15: 100,911,172 (GRCm39) |
K864M |
probably damaging |
Het |
Sema3c |
T |
C |
5: 17,919,452 (GRCm39) |
|
probably null |
Het |
Slc24a4 |
C |
T |
12: 102,097,779 (GRCm39) |
T30I |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,420,904 (GRCm39) |
D465G |
probably damaging |
Het |
Snrnp48 |
T |
C |
13: 38,393,920 (GRCm39) |
M75T |
probably benign |
Het |
Srgap2 |
A |
G |
1: 131,272,164 (GRCm39) |
S41P |
|
Het |
St3gal5 |
A |
G |
6: 72,130,580 (GRCm39) |
T391A |
probably benign |
Het |
Stkld1 |
T |
C |
2: 26,843,297 (GRCm39) |
L628P |
possibly damaging |
Het |
Tbc1d1 |
T |
A |
5: 64,502,701 (GRCm39) |
M1074K |
probably benign |
Het |
Tent2 |
G |
T |
13: 93,322,821 (GRCm39) |
Q43K |
probably benign |
Het |
Tpsb2 |
T |
A |
17: 25,586,077 (GRCm39) |
Y98* |
probably null |
Het |
Trav6d-3 |
G |
A |
14: 52,964,144 (GRCm39) |
D36N |
probably benign |
Het |
Trim16 |
A |
G |
11: 62,731,644 (GRCm39) |
Y505C |
probably damaging |
Het |
Ttpal |
A |
G |
2: 163,457,458 (GRCm39) |
D310G |
probably benign |
Het |
Ubox5 |
A |
G |
2: 130,441,835 (GRCm39) |
I284T |
probably damaging |
Het |
Vmn2r45 |
T |
A |
7: 8,478,457 (GRCm39) |
|
probably null |
Het |
Vmn2r67 |
T |
C |
7: 84,804,941 (GRCm39) |
D57G |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,855,428 (GRCm39) |
T729A |
|
Het |
Wdr81 |
A |
T |
11: 75,344,349 (GRCm39) |
M306K |
probably benign |
Het |
Zfp62 |
A |
G |
11: 49,106,542 (GRCm39) |
D211G |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,636,763 (GRCm39) |
K1316E |
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 |
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 |
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'- GCACGTCACCTTTGAAGACG -3'
(R):5'- GCAATGCTGTATGGGGAATG -3'
Sequencing Primer
(F):5'- ACGGTCTTGTGGTCTTACCTAAAAG -3'
(R):5'- CCCTTTCTCAGTATAAACTAAGGTGG -3'
|
Posted On |
2022-08-09 |