Incidental Mutation 'RF003:Cep192'
| ID |
602667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep192
|
| Ensembl Gene |
ENSMUSG00000024542 |
| Gene Name |
centrosomal protein 192 |
| Synonyms |
D430014P18Rik, 4631422C13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF003 (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 T
at 67971027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 1009
(R1009S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
| AlphaFold |
E9Q4Y4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025425
AA Change: R1009S
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: R1009S
| 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 |
probably benign
Transcript: ENSMUST00000225303
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| A630073D07Rik |
A |
C |
6: 132,604,406 (GRCm39) |
L13R |
unknown |
Het |
| Alg9 |
GGC |
GGCCGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
| Arb2a |
A |
T |
13: 77,982,794 (GRCm39) |
I135L |
possibly damaging |
Het |
| Arc |
G |
C |
15: 74,543,980 (GRCm39) |
T81S |
probably benign |
Het |
| Atad5 |
A |
T |
11: 80,002,386 (GRCm39) |
K1059N |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,196,957 (GRCm39) |
V1143F |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,196,958 (GRCm39) |
Q1142H |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,965,574 (GRCm39) |
S583G |
probably benign |
Het |
| Cd109 |
TTAT |
TTATTTATTTATATAT |
9: 78,619,813 (GRCm39) |
|
probably benign |
Het |
| Clvs2 |
T |
A |
10: 33,498,921 (GRCm39) |
H3L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,440 (GRCm39) |
M14V |
probably benign |
Het |
| Colec10 |
A |
G |
15: 54,325,787 (GRCm39) |
R206G |
possibly damaging |
Het |
| Dennd6a |
T |
C |
14: 26,350,689 (GRCm39) |
I598T |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
| Dnmt1 |
AGTTCCTACCTCGTT |
AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT |
9: 20,821,427 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,707,919 (GRCm39) |
D748G |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,524,729 (GRCm39) |
Q21* |
probably null |
Het |
| Flywch1 |
CCACTCCTGGTGT |
CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT |
17: 23,981,140 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
ACCTCC |
ACCTCCCCCTCC |
2: 113,356,131 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,865 (GRCm39) |
M5866K |
probably benign |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,612 (GRCm39) |
|
probably null |
Het |
| Garin5a |
C |
CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA |
7: 44,149,951 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
A |
4: 124,937,518 (GRCm39) |
|
probably null |
Het |
| Grip2 |
C |
T |
6: 91,760,574 (GRCm39) |
R341Q |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,500,312 (GRCm39) |
H3960L |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,762 (GRCm39) |
Y56* |
probably null |
Het |
| Il12a |
A |
T |
3: 68,602,562 (GRCm39) |
T102S |
probably benign |
Het |
| Il1a |
T |
A |
2: 129,144,852 (GRCm39) |
I189F |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,696,150 (GRCm39) |
Y361* |
probably null |
Het |
| Iqcf4 |
CTTTTCCTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT |
9: 106,447,806 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
AGCACATTG |
AGCACATTGTGCACATTG |
6: 145,119,509 (GRCm39) |
|
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Las1l |
AGTGG |
AGTGGTGG |
X: 94,984,422 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
T |
C |
5: 105,960,507 (GRCm39) |
Y306H |
probably damaging |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,777 (GRCm39) |
|
probably benign |
Het |
| Map1b |
G |
T |
13: 99,567,258 (GRCm39) |
A1821E |
unknown |
Het |
| Maz |
A |
G |
7: 126,624,669 (GRCm39) |
C284R |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,779,683 (GRCm39) |
H920R |
probably damaging |
Het |
| Megf10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
18: 57,427,099 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
C |
T |
14: 54,676,471 (GRCm39) |
R339* |
probably null |
Het |
| Mroh9 |
T |
G |
1: 162,885,630 (GRCm39) |
K334T |
probably damaging |
Het |
| Nab1 |
A |
T |
1: 52,518,441 (GRCm39) |
C320S |
probably damaging |
Het |
| Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
| Nudt4 |
T |
C |
10: 95,385,236 (GRCm39) |
N152D |
possibly damaging |
Het |
| Nup155 |
T |
TTTTG |
15: 8,148,660 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGCTGAGA |
AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA |
2: 119,458,084 (GRCm39) |
|
probably benign |
Het |
| Or10al2 |
A |
C |
17: 37,983,749 (GRCm39) |
K278N |
probably damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,855 (GRCm39) |
M118L |
probably damaging |
Het |
| Or2t48 |
CA |
C |
11: 58,419,983 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
GTTAT |
GTTATTAT |
7: 102,747,512 (GRCm39) |
|
|
Het |
| Or51f1e |
TTA |
TTAGTA |
7: 102,747,513 (GRCm39) |
|
probably null |
Het |
| Or7g16 |
T |
C |
9: 18,726,778 (GRCm39) |
T271A |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,296 (GRCm39) |
I206V |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,630,306 (GRCm39) |
Y1531C |
probably damaging |
Het |
| Pnma8b |
TGA |
TGAAGA |
7: 16,679,941 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,414,917 (GRCm39) |
V2065A |
probably damaging |
Het |
| Sbp |
AAGATGCTGACAACA |
AAGATGCTGACAACAGAGATGCTGACAACA |
17: 24,164,343 (GRCm39) |
|
probably benign |
Het |
| Sepsecs |
G |
A |
5: 52,804,533 (GRCm39) |
T379M |
probably benign |
Het |
| Sfswap |
GGCC |
GGCCCACTCTGCC |
5: 129,646,828 (GRCm39) |
|
probably benign |
Het |
| Six3 |
GCG |
GCGTCG |
17: 85,928,798 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
C |
T |
17: 48,099,003 (GRCm39) |
T259I |
possibly damaging |
Het |
| Tgoln1 |
A |
AAACTCAG |
6: 72,593,335 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
G |
A |
11: 115,686,958 (GRCm39) |
V1108M |
probably damaging |
Het |
| Usp35 |
T |
C |
7: 96,971,303 (GRCm39) |
K297E |
possibly damaging |
Het |
| Vcpkmt |
T |
A |
12: 69,629,598 (GRCm39) |
T55S |
possibly damaging |
Het |
| Zfp384 |
GCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAG |
6: 125,013,446 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
GGCCC |
GGCCCTGGCCCAAGCCC |
6: 125,013,439 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,227,688 (GRCm39) |
S1974T |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,704 (GRCm39) |
S254P |
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 |
|
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 |
|
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'- GGCAACCTTTTCTTCAATGGTATC -3'
(R):5'- GTCAAGCATCACTACTTCCTTTGG -3'
Sequencing Primer
(F):5'- ATAGACAGGAGTGGCCTT -3'
(R):5'- GGTCTCAAAGCCTTATTAAAGAGAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation