Incidental Mutation 'IGL00163:Cep78'
| ID |
712 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep78
|
| Ensembl Gene |
ENSMUSG00000041491 |
| Gene Name |
centrosomal protein 78 |
| Synonyms |
5730599I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.766)
|
| Stock # |
IGL00163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
15933137-15962353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15946504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 443
(T443A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047704]
|
| AlphaFold |
Q6IRU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047704
AA Change: T443A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: T443A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
G |
A |
4: 88,786,310 (GRCm39) |
Q103* |
probably null |
Het |
| 4933406P04Rik |
C |
A |
10: 20,186,970 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,343,194 (GRCm39) |
E251G |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,998,302 (GRCm39) |
H292R |
probably benign |
Het |
| Akr1c6 |
T |
C |
13: 4,498,977 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
T |
A |
5: 103,008,265 (GRCm39) |
M62K |
possibly damaging |
Het |
| Bicd1 |
A |
G |
6: 149,451,888 (GRCm39) |
H834R |
possibly damaging |
Het |
| Ccdc77 |
G |
T |
6: 120,306,045 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
G |
T |
14: 59,818,818 (GRCm39) |
H337N |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 68,013,871 (GRCm39) |
T2424A |
possibly damaging |
Het |
| Chrna1 |
T |
A |
2: 73,400,986 (GRCm39) |
E181D |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 49,984,534 (GRCm39) |
D177N |
probably damaging |
Het |
| Eif3h |
T |
A |
15: 51,650,195 (GRCm39) |
I330F |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,697,091 (GRCm39) |
E691G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,893 (GRCm39) |
S230C |
probably benign |
Het |
| Gipc2 |
T |
C |
3: 151,843,215 (GRCm39) |
I141V |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,485,410 (GRCm39) |
D291V |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,292,334 (GRCm39) |
A420V |
possibly damaging |
Het |
| Jag1 |
C |
T |
2: 136,927,952 (GRCm39) |
|
probably null |
Het |
| Minar1 |
A |
T |
9: 89,473,150 (GRCm39) |
|
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,387,946 (GRCm39) |
Y16F |
probably benign |
Het |
| Muc4 |
G |
T |
16: 32,754,090 (GRCm38) |
R1322M |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,801,379 (GRCm39) |
I1179T |
probably benign |
Het |
| Nos1ap |
A |
G |
1: 170,342,175 (GRCm39) |
|
probably benign |
Het |
| Npc1l1 |
A |
T |
11: 6,174,199 (GRCm39) |
V702E |
probably damaging |
Het |
| Or13d1 |
G |
A |
4: 52,971,058 (GRCm39) |
V146M |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,012 (GRCm39) |
I255V |
probably benign |
Het |
| Or2ag17 |
T |
A |
7: 106,389,796 (GRCm39) |
R137S |
probably benign |
Het |
| Or2y10 |
A |
C |
11: 49,454,747 (GRCm39) |
|
probably benign |
Het |
| Or4c31 |
A |
T |
2: 88,291,696 (GRCm39) |
Y4F |
probably benign |
Het |
| Or4f7 |
A |
C |
2: 111,644,126 (GRCm39) |
|
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,926 (GRCm39) |
L157* |
probably null |
Het |
| Pdzph1 |
T |
C |
17: 59,281,791 (GRCm39) |
T164A |
possibly damaging |
Het |
| Ptn |
T |
C |
6: 36,720,424 (GRCm39) |
K43E |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,209,051 (GRCm39) |
V340A |
probably damaging |
Het |
| Rnf5 |
C |
T |
17: 34,821,083 (GRCm39) |
G83E |
probably damaging |
Het |
| Scin |
G |
T |
12: 40,126,971 (GRCm39) |
Q459K |
probably benign |
Het |
| Serpina5 |
C |
A |
12: 104,071,479 (GRCm39) |
A362D |
probably damaging |
Het |
| Tex47 |
T |
A |
5: 7,355,468 (GRCm39) |
Y216* |
probably null |
Het |
| Tll1 |
A |
T |
8: 64,469,170 (GRCm39) |
H984Q |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,815,568 (GRCm39) |
V81A |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,066 (GRCm39) |
S1077R |
probably benign |
Het |
| Trgv3 |
G |
A |
13: 19,427,381 (GRCm39) |
S88N |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,153,428 (GRCm39) |
|
probably benign |
Het |
| Tubgcp2 |
T |
C |
7: 139,610,935 (GRCm39) |
T149A |
possibly damaging |
Het |
| Ulk1 |
G |
A |
5: 110,935,738 (GRCm39) |
A25V |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,895,110 (GRCm39) |
E378G |
probably damaging |
Het |
| Vsig10 |
A |
G |
5: 117,476,479 (GRCm39) |
N311S |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,429 (GRCm39) |
Y144H |
possibly damaging |
Het |
|
| Other mutations in Cep78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation