Incidental Mutation 'IGL00589:Ccz1'
| ID |
6383 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccz1
|
| Ensembl Gene |
ENSMUSG00000029617 |
| Gene Name |
CCZ1 vacuolar protein trafficking and biogenesis associated |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.786)
|
| Stock # |
IGL00589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143924727-143951695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143949713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 72
(T72A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031621]
|
| AlphaFold |
Q8C1Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031621
AA Change: T72A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031621
Gene: ENSMUSG00000029617
AA Change: T72A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:DUF1712
|
25 |
422 |
3.7e-97 |
PFAM |
|
Pfam:DUF1712
|
398 |
477 |
5.4e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199922
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
A |
T |
X: 154,078,236 (GRCm39) |
I261L |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,659,216 (GRCm39) |
F525I |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,554,096 (GRCm39) |
Y674* |
probably null |
Het |
| Baz1b |
A |
G |
5: 135,225,346 (GRCm39) |
E43G |
possibly damaging |
Het |
| Chd9 |
G |
A |
8: 91,742,474 (GRCm39) |
R1629H |
probably damaging |
Het |
| Ell3 |
A |
T |
2: 121,270,761 (GRCm39) |
D257E |
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,547,016 (GRCm39) |
|
probably benign |
Het |
| Isg20 |
G |
A |
7: 78,566,332 (GRCm39) |
D94N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,369,960 (GRCm39) |
S392R |
probably damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,231,923 (GRCm39) |
T151S |
probably benign |
Het |
| Nphp1 |
A |
G |
2: 127,605,769 (GRCm39) |
I352T |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,244,869 (GRCm39) |
C97S |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,813,687 (GRCm39) |
D266G |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,067 (GRCm39) |
Y233H |
probably benign |
Het |
| Rwdd4a |
A |
T |
8: 47,997,219 (GRCm39) |
E146V |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,485,816 (GRCm39) |
I90V |
probably benign |
Het |
| Slc38a3 |
G |
A |
9: 107,535,876 (GRCm39) |
L86F |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,554,362 (GRCm39) |
V1576M |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,275,635 (GRCm39) |
L806Q |
probably damaging |
Het |
|
| Other mutations in Ccz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01750:Ccz1
|
APN |
5 |
143,940,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:Ccz1
|
UTSW |
5 |
143,927,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0128:Ccz1
|
UTSW |
5 |
143,946,112 (GRCm39) |
splice site |
probably benign |
|
|
R1456:Ccz1
|
UTSW |
5 |
143,947,836 (GRCm39) |
splice site |
probably benign |
|
|
R2511:Ccz1
|
UTSW |
5 |
143,949,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Ccz1
|
UTSW |
5 |
143,928,380 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4858:Ccz1
|
UTSW |
5 |
143,949,628 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5761:Ccz1
|
UTSW |
5 |
143,929,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Ccz1
|
UTSW |
5 |
143,940,859 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7286:Ccz1
|
UTSW |
5 |
143,949,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Ccz1
|
UTSW |
5 |
143,935,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Ccz1
|
UTSW |
5 |
143,928,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Ccz1
|
UTSW |
5 |
143,951,626 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8729:Ccz1
|
UTSW |
5 |
143,948,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8753:Ccz1
|
UTSW |
5 |
143,925,050 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8840:Ccz1
|
UTSW |
5 |
143,940,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9027:Ccz1
|
UTSW |
5 |
143,946,120 (GRCm39) |
intron |
probably benign |
|
|
R9468:Ccz1
|
UTSW |
5 |
143,929,438 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9568:Ccz1
|
UTSW |
5 |
143,938,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9628:Ccz1
|
UTSW |
5 |
143,925,043 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2012-04-20 |
Incidental Mutation