Incidental Mutation 'R3814:Cep78'
ID |
274214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep78
|
Ensembl Gene |
ENSMUSG00000041491 |
Gene Name |
centrosomal protein 78 |
Synonyms |
5730599I05Rik |
MMRRC Submission |
040769-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.766)
|
Stock # |
R3814 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
15933137-15962353 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 15959166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047704]
|
AlphaFold |
Q6IRU7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047704
|
SMART Domains |
Protein: ENSMUSP00000037596 Gene: ENSMUSG00000041491
Domain | Start | End | E-Value | Type |
LRR
|
152 |
179 |
2.95e-3 |
SMART |
Blast:LRR
|
180 |
207 |
1e-10 |
BLAST |
LRR
|
231 |
259 |
6.28e-1 |
SMART |
LRR
|
260 |
287 |
8.81e-2 |
SMART |
LRR
|
288 |
313 |
1.96e2 |
SMART |
low complexity region
|
427 |
450 |
N/A |
INTRINSIC |
coiled coil region
|
462 |
511 |
N/A |
INTRINSIC |
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181731
|
Meta Mutation Damage Score |
0.9496 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
C |
7: 40,642,343 (GRCm39) |
V4A |
probably damaging |
Het |
Abca4 |
C |
T |
3: 121,964,570 (GRCm39) |
|
probably benign |
Het |
Adam20 |
G |
T |
8: 41,248,712 (GRCm39) |
W274L |
probably damaging |
Het |
Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
Cyp2c55 |
T |
A |
19: 38,995,509 (GRCm39) |
L7Q |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,383,476 (GRCm39) |
|
probably null |
Het |
Dpy19l3 |
G |
A |
7: 35,426,717 (GRCm39) |
Q64* |
probably null |
Het |
Enthd1 |
T |
A |
15: 80,336,883 (GRCm39) |
Y517F |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
G2e3 |
C |
T |
12: 51,400,444 (GRCm39) |
T32I |
probably benign |
Het |
Glb1l2 |
A |
G |
9: 26,682,330 (GRCm39) |
S302P |
probably benign |
Het |
Ino80d |
C |
T |
1: 63,113,583 (GRCm39) |
R289Q |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,649,809 (GRCm39) |
L161P |
possibly damaging |
Het |
Kif19a |
A |
G |
11: 114,672,745 (GRCm39) |
Y256C |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
Map3k5 |
T |
C |
10: 19,901,936 (GRCm39) |
S328P |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 20,016,426 (GRCm39) |
V1339D |
probably damaging |
Het |
Mib1 |
G |
A |
18: 10,763,281 (GRCm39) |
V444M |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,849,470 (GRCm39) |
I1277V |
probably damaging |
Het |
Mvp |
T |
A |
7: 126,586,801 (GRCm39) |
M777L |
probably benign |
Het |
Pik3c2a |
G |
A |
7: 115,947,414 (GRCm39) |
R1423W |
probably damaging |
Het |
Prdm16 |
T |
C |
4: 154,412,750 (GRCm39) |
E1085G |
probably damaging |
Het |
Prune1 |
A |
C |
3: 95,172,750 (GRCm39) |
V105G |
probably damaging |
Het |
Rbpj |
G |
T |
5: 53,810,514 (GRCm39) |
E399* |
probably null |
Het |
Rp1 |
C |
A |
1: 4,419,931 (GRCm39) |
V394L |
probably benign |
Het |
S100a4 |
G |
A |
3: 90,513,152 (GRCm39) |
A83T |
probably benign |
Het |
Satb1 |
T |
C |
17: 52,089,935 (GRCm39) |
H304R |
probably damaging |
Het |
Slc6a17 |
T |
C |
3: 107,378,633 (GRCm39) |
E680G |
possibly damaging |
Het |
Tbc1d4 |
A |
T |
14: 101,696,191 (GRCm39) |
I919N |
possibly damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,899,093 (GRCm39) |
K478N |
probably damaging |
Het |
Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
Het |
|
Other mutations in Cep78 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Cep78
|
APN |
19 |
15,946,504 (GRCm39) |
missense |
probably benign |
|
IGL00920:Cep78
|
APN |
19 |
15,958,850 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01548:Cep78
|
APN |
19 |
15,958,564 (GRCm39) |
splice site |
probably benign |
|
IGL01662:Cep78
|
APN |
19 |
15,938,359 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01933:Cep78
|
APN |
19 |
15,933,304 (GRCm39) |
missense |
probably benign |
|
IGL02014:Cep78
|
APN |
19 |
15,962,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02198:Cep78
|
APN |
19 |
15,933,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02331:Cep78
|
APN |
19 |
15,951,779 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02431:Cep78
|
APN |
19 |
15,936,943 (GRCm39) |
missense |
probably benign |
|
IGL02731:Cep78
|
APN |
19 |
15,933,670 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03268:Cep78
|
APN |
19 |
15,951,806 (GRCm39) |
nonsense |
probably null |
|
IGL03338:Cep78
|
APN |
19 |
15,936,987 (GRCm39) |
missense |
probably damaging |
0.97 |
himalayas
|
UTSW |
19 |
15,946,492 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0426:Cep78
|
UTSW |
19 |
15,948,334 (GRCm39) |
nonsense |
probably null |
|
R0619:Cep78
|
UTSW |
19 |
15,956,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R0659:Cep78
|
UTSW |
19 |
15,933,554 (GRCm39) |
missense |
probably damaging |
0.97 |
R1517:Cep78
|
UTSW |
19 |
15,937,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R1758:Cep78
|
UTSW |
19 |
15,936,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R1836:Cep78
|
UTSW |
19 |
15,946,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Cep78
|
UTSW |
19 |
15,933,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Cep78
|
UTSW |
19 |
15,951,715 (GRCm39) |
splice site |
probably benign |
|
R2483:Cep78
|
UTSW |
19 |
15,938,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R2958:Cep78
|
UTSW |
19 |
15,956,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R4133:Cep78
|
UTSW |
19 |
15,946,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R4214:Cep78
|
UTSW |
19 |
15,936,943 (GRCm39) |
missense |
probably benign |
|
R5783:Cep78
|
UTSW |
19 |
15,933,723 (GRCm39) |
missense |
probably benign |
0.02 |
R5791:Cep78
|
UTSW |
19 |
15,938,436 (GRCm39) |
missense |
probably benign |
0.19 |
R5910:Cep78
|
UTSW |
19 |
15,946,492 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5924:Cep78
|
UTSW |
19 |
15,938,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R6148:Cep78
|
UTSW |
19 |
15,959,150 (GRCm39) |
nonsense |
probably null |
|
R6162:Cep78
|
UTSW |
19 |
15,952,304 (GRCm39) |
missense |
probably benign |
0.28 |
R6235:Cep78
|
UTSW |
19 |
15,953,850 (GRCm39) |
splice site |
probably null |
|
R6968:Cep78
|
UTSW |
19 |
15,959,102 (GRCm39) |
missense |
probably benign |
0.38 |
R7228:Cep78
|
UTSW |
19 |
15,946,561 (GRCm39) |
missense |
probably benign |
0.01 |
R7913:Cep78
|
UTSW |
19 |
15,947,941 (GRCm39) |
missense |
probably benign |
|
R7914:Cep78
|
UTSW |
19 |
15,953,672 (GRCm39) |
missense |
probably benign |
0.30 |
R7934:Cep78
|
UTSW |
19 |
15,933,754 (GRCm39) |
missense |
probably damaging |
0.96 |
R8059:Cep78
|
UTSW |
19 |
15,958,876 (GRCm39) |
missense |
probably benign |
0.02 |
R8146:Cep78
|
UTSW |
19 |
15,933,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R8532:Cep78
|
UTSW |
19 |
15,936,948 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9039:Cep78
|
UTSW |
19 |
15,936,907 (GRCm39) |
missense |
probably benign |
0.44 |
R9062:Cep78
|
UTSW |
19 |
15,956,318 (GRCm39) |
missense |
probably benign |
0.23 |
R9264:Cep78
|
UTSW |
19 |
15,951,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAAACCAGCTTTCAAATGTTGCAG -3'
(R):5'- AGGTGCAACTTCTCTGACTCC -3'
Sequencing Primer
(F):5'- CAGCTTTCAAATGTTGCAGGTGAC -3'
(R):5'- GTGCAACTTCTCTGACTCCGTAAG -3'
|
Posted On |
2015-04-02 |