Incidental Mutation 'IGL01750:Ccz1'
| ID |
153113 |
| 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: 0.825)
|
| Stock # |
IGL01750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143924727-143951695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143940880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 225
(Y225N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031621]
|
| AlphaFold |
Q8C1Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031621
AA Change: Y225N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031621
Gene: ENSMUSG00000029617
AA Change: Y225N
| 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: ENSMUST00000200669
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,742,030 (GRCm39) |
R616G |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,544,407 (GRCm39) |
P1260S |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,303,897 (GRCm39) |
P1101S |
probably damaging |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,570 (GRCm39) |
H97L |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,508 (GRCm39) |
S511F |
probably damaging |
Het |
| Fnbp1l |
G |
T |
3: 122,338,326 (GRCm39) |
Y351* |
probably null |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Hrob |
T |
C |
11: 102,145,777 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,049 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,627,177 (GRCm39) |
N123S |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,048,064 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,922,465 (GRCm39) |
E6558G |
probably damaging |
Het |
| Or2j6 |
T |
C |
7: 139,980,570 (GRCm39) |
T130A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
| Pitx1 |
A |
G |
13: 55,974,304 (GRCm39) |
Y176H |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,589 (GRCm39) |
V4116A |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,575,680 (GRCm39) |
V617A |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,060,268 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
G |
A |
5: 120,256,857 (GRCm39) |
A57T |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,102,064 (GRCm39) |
I134T |
possibly damaging |
Het |
| Thumpd2 |
G |
A |
17: 81,361,815 (GRCm39) |
A137V |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,427,153 (GRCm39) |
Y756C |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,435 (GRCm39) |
L986P |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,540,023 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Zfp474 |
A |
G |
18: 52,772,349 (GRCm39) |
N334S |
possibly damaging |
Het |
|
| Other mutations in Ccz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Ccz1
|
APN |
5 |
143,949,713 (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 |
2014-02-04 |
Incidental Mutation