Incidental Mutation 'R8247:Cep192'
| ID |
640740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep192
|
| Ensembl Gene |
ENSMUSG00000024542 |
| Gene Name |
centrosomal protein 192 |
| Synonyms |
D430014P18Rik, 4631422C13Rik |
| MMRRC Submission |
067674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8247 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
67933177-68018241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67974188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1097
(I1097N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025425]
|
| AlphaFold |
E9Q4Y4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025425
AA Change: I1097N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: I1097N
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
T |
C |
6: 52,155,942 (GRCm39) |
S3P |
unknown |
Het |
| Abca15 |
A |
T |
7: 119,936,445 (GRCm39) |
Y170F |
possibly damaging |
Het |
| Alpl |
C |
T |
4: 137,473,764 (GRCm39) |
V313M |
probably damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,792,102 (GRCm39) |
H311R |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,361,870 (GRCm39) |
L2749Q |
|
Het |
| Bicd2 |
C |
T |
13: 49,533,462 (GRCm39) |
R683W |
probably damaging |
Het |
| Brat1 |
C |
A |
5: 140,698,893 (GRCm39) |
P342T |
possibly damaging |
Het |
| Camta1 |
T |
A |
4: 151,159,721 (GRCm39) |
T482S |
probably damaging |
Het |
| Carhsp1 |
A |
G |
16: 8,481,535 (GRCm39) |
V67A |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,282,998 (GRCm39) |
N512I |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
| Cd274 |
C |
T |
19: 29,362,795 (GRCm39) |
Q286* |
probably null |
Het |
| Cimip4 |
A |
C |
15: 78,262,992 (GRCm39) |
S221A |
probably benign |
Het |
| Clvs1 |
A |
T |
4: 9,281,885 (GRCm39) |
N110Y |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 85,019,017 (GRCm39) |
T102A |
probably benign |
Het |
| Cp |
A |
C |
3: 20,020,570 (GRCm39) |
I188L |
possibly damaging |
Het |
| Crh |
A |
G |
3: 19,748,291 (GRCm39) |
L117P |
probably benign |
Het |
| Dcaf1 |
A |
T |
9: 106,731,427 (GRCm39) |
I635F |
possibly damaging |
Het |
| Dennd2c |
A |
G |
3: 103,059,637 (GRCm39) |
D521G |
probably damaging |
Het |
| E2f2 |
C |
T |
4: 135,900,126 (GRCm39) |
T12M |
possibly damaging |
Het |
| Eid2 |
G |
A |
7: 27,967,972 (GRCm39) |
R198H |
probably damaging |
Het |
| Exosc4 |
G |
T |
15: 76,213,279 (GRCm39) |
C74F |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,010,694 (GRCm39) |
|
probably benign |
Het |
| Ganc |
A |
T |
2: 120,267,181 (GRCm39) |
Q499L |
probably null |
Het |
| Gfy |
T |
C |
7: 44,827,710 (GRCm39) |
T129A |
possibly damaging |
Het |
| Gli3 |
G |
T |
13: 15,901,360 (GRCm39) |
M1582I |
possibly damaging |
Het |
| Gm4744 |
A |
G |
6: 40,926,402 (GRCm39) |
S63P |
|
Het |
| Htr2b |
T |
C |
1: 86,027,817 (GRCm39) |
T230A |
probably benign |
Het |
| Iqcb1 |
T |
A |
16: 36,678,836 (GRCm39) |
N383K |
probably benign |
Het |
| Lpcat1 |
A |
T |
13: 73,662,071 (GRCm39) |
I471F |
probably damaging |
Het |
| Lrch3 |
T |
G |
16: 32,829,713 (GRCm39) |
L781* |
probably null |
Het |
| Lrif1 |
T |
A |
3: 106,641,692 (GRCm39) |
S3T |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,261,431 (GRCm39) |
R4503S |
possibly damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,756,310 (GRCm39) |
I695T |
probably damaging |
Het |
| Mak |
G |
A |
13: 41,193,146 (GRCm39) |
T473M |
possibly damaging |
Het |
| Map2k5 |
A |
T |
9: 63,279,019 (GRCm39) |
Y62N |
probably damaging |
Het |
| Mbd3l2 |
T |
C |
9: 18,356,299 (GRCm39) |
L208P |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,840,062 (GRCm39) |
E2577G |
probably damaging |
Het |
| Nfia |
A |
T |
4: 97,953,644 (GRCm39) |
T461S |
probably benign |
Het |
| Oaz3 |
A |
G |
3: 94,343,741 (GRCm39) |
Y41H |
probably damaging |
Het |
| Or10ab5 |
T |
A |
7: 108,245,370 (GRCm39) |
I138F |
probably damaging |
Het |
| Or1p1 |
C |
A |
11: 74,180,315 (GRCm39) |
T281K |
noncoding transcript |
Het |
| Or2ad1 |
A |
G |
13: 21,326,295 (GRCm39) |
S311P |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,783 (GRCm39) |
V251A |
possibly damaging |
Het |
| Pin1rt1 |
T |
C |
2: 104,544,892 (GRCm39) |
E80G |
probably damaging |
Het |
| Pmpcb |
T |
C |
5: 21,961,852 (GRCm39) |
Y457H |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,468,062 (GRCm39) |
S121P |
possibly damaging |
Het |
| Ppm1e |
C |
T |
11: 87,122,101 (GRCm39) |
G619R |
probably benign |
Het |
| Pramel5 |
T |
A |
4: 143,999,395 (GRCm39) |
M231L |
probably damaging |
Het |
| Prex2 |
G |
T |
1: 11,270,194 (GRCm39) |
C1293F |
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,416,562 (GRCm39) |
F185L |
probably benign |
Het |
| Psg28 |
A |
G |
7: 18,156,864 (GRCm39) |
V457A |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,422,445 (GRCm39) |
L188P |
probably damaging |
Het |
| Scd3 |
A |
T |
19: 44,227,003 (GRCm39) |
N279I |
possibly damaging |
Het |
| Scg2 |
T |
G |
1: 79,414,236 (GRCm39) |
K162N |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,149,372 (GRCm39) |
E1629G |
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,395,515 (GRCm39) |
F147L |
probably benign |
Het |
| Smco1 |
T |
C |
16: 32,092,557 (GRCm39) |
V76A |
probably benign |
Het |
| Spic |
T |
C |
10: 88,511,923 (GRCm39) |
K111R |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,786,390 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
T |
A |
11: 30,063,906 (GRCm39) |
I1971F |
possibly damaging |
Het |
| Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,695,037 (GRCm39) |
T140M |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,250,606 (GRCm39) |
E749G |
probably benign |
Het |
| Vmn1r168 |
G |
T |
7: 23,240,487 (GRCm39) |
V115F |
possibly damaging |
Het |
| Wars2 |
G |
A |
3: 99,094,965 (GRCm39) |
V87I |
probably benign |
Het |
| Zdhhc14 |
T |
A |
17: 5,736,031 (GRCm39) |
C170S |
probably damaging |
Het |
| Zfp113 |
C |
T |
5: 138,143,296 (GRCm39) |
C318Y |
possibly damaging |
Het |
| Zfp367 |
A |
G |
13: 64,300,482 (GRCm39) |
S108P |
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 |
|
|
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 |
|
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'- TTTCAGGAGACCATGTAGATTTCAC -3'
(R):5'- CAATCAGGTCCTGCTCACTG -3'
Sequencing Primer
(F):5'- GGAGACCATGTAGATTTCACATTGAG -3'
(R):5'- CTCACTGGAGCCAGATGTTGAATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation