Incidental Mutation 'R8146:Cep78'
| ID |
632833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep78
|
| Ensembl Gene |
ENSMUSG00000041491 |
| Gene Name |
centrosomal protein 78 |
| Synonyms |
5730599I05Rik |
| MMRRC Submission |
067574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.785)
|
| Stock # |
R8146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
15933137-15962353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15933727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 617
(L617P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047704]
|
| AlphaFold |
Q6IRU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047704
AA Change: L617P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: L617P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,498,814 (GRCm39) |
E393A |
possibly damaging |
Het |
| 4930550C14Rik |
A |
G |
9: 53,334,270 (GRCm39) |
D171G |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,347,829 (GRCm39) |
Y3561H |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,202 (GRCm39) |
V464D |
probably damaging |
Het |
| Adgrl1 |
C |
A |
8: 84,657,618 (GRCm39) |
T408N |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 90,143,560 (GRCm39) |
R523Q |
probably damaging |
Het |
| Anks6 |
C |
A |
4: 47,043,605 (GRCm39) |
A375S |
unknown |
Het |
| Bbs10 |
T |
A |
10: 111,136,396 (GRCm39) |
I503K |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,818,797 (GRCm39) |
I598T |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,076,171 (GRCm39) |
D339E |
probably damaging |
Het |
| Cdh4 |
C |
A |
2: 179,515,871 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Cnbd2 |
T |
G |
2: 156,170,281 (GRCm39) |
V122G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,007 (GRCm39) |
N158K |
possibly damaging |
Het |
| Cul1 |
T |
C |
6: 47,472,027 (GRCm39) |
V56A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,546,827 (GRCm39) |
I277N |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,340,784 (GRCm39) |
D340G |
probably benign |
Het |
| Exoc6b |
A |
C |
6: 84,885,176 (GRCm39) |
D254E |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,722,862 (GRCm39) |
K268E |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,178,844 (GRCm39) |
N157I |
probably benign |
Het |
| Hacd1 |
T |
A |
2: 14,049,605 (GRCm39) |
S118C |
probably damaging |
Het |
| Hcn4 |
A |
C |
9: 58,731,027 (GRCm39) |
E78A |
unknown |
Het |
| Inpp5e |
T |
A |
2: 26,289,274 (GRCm39) |
T549S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,646,105 (GRCm39) |
N281S |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,552,864 (GRCm39) |
D1280G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,059,304 (GRCm39) |
V307A |
probably benign |
Het |
| Mafb |
A |
G |
2: 160,208,298 (GRCm39) |
L100P |
probably damaging |
Het |
| Med24 |
C |
T |
11: 98,608,940 (GRCm39) |
G119R |
probably benign |
Het |
| Mvp |
G |
T |
7: 126,586,171 (GRCm39) |
P866Q |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,510 (GRCm39) |
I94T |
probably damaging |
Het |
| Phykpl |
T |
C |
11: 51,476,408 (GRCm39) |
Y43H |
probably damaging |
Het |
| Prag1 |
T |
G |
8: 36,571,364 (GRCm39) |
L649R |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,361 (GRCm39) |
F293L |
probably damaging |
Het |
| Rasip1 |
T |
G |
7: 45,279,704 (GRCm39) |
S316A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,004,429 (GRCm39) |
S1627L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,145 (GRCm39) |
R1565G |
probably benign |
Het |
| Sart3 |
G |
A |
5: 113,886,018 (GRCm39) |
T572M |
probably damaging |
Het |
| Sec24b |
G |
T |
3: 129,789,573 (GRCm39) |
S816* |
probably null |
Het |
| Slamf1 |
C |
T |
1: 171,619,887 (GRCm39) |
P279L |
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,495,401 (GRCm39) |
V368F |
possibly damaging |
Het |
| Tap1 |
A |
T |
17: 34,408,206 (GRCm39) |
D194V |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,496 (GRCm39) |
Y319C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,036,416 (GRCm39) |
I579N |
probably damaging |
Het |
| Zbtb22 |
G |
T |
17: 34,135,956 (GRCm39) |
V34L |
probably damaging |
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 |
|
R3814:Cep78
|
UTSW |
19 |
15,959,166 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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'- TTCTCTGAAGAAGACCTGCTGTG -3'
(R):5'- GATGTTTGTGCAGGAATAGAAACC -3'
Sequencing Primer
(F):5'- GACCTGCTGTGTTTAGACAAC -3'
(R):5'- CTCTGTAGTGGCTCACTT -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation