Incidental Mutation 'IGL02838:Zcchc8'
ID |
361753 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zcchc8
|
Ensembl Gene |
ENSMUSG00000029427 |
Gene Name |
zinc finger, CCHC domain containing 8 |
Synonyms |
5730565F05Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.328)
|
Stock # |
IGL02838
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
123836365-123859107 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 123857546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031376]
[ENSMUST00000196282]
[ENSMUST00000200503]
|
AlphaFold |
Q9CYA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031376
|
SMART Domains |
Protein: ENSMUSP00000031376 Gene: ENSMUSG00000029427
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
48 |
83 |
N/A |
INTRINSIC |
ZnF_C2HC
|
231 |
247 |
4.13e-3 |
SMART |
PSP
|
286 |
338 |
3.04e-27 |
SMART |
low complexity region
|
410 |
434 |
N/A |
INTRINSIC |
low complexity region
|
464 |
500 |
N/A |
INTRINSIC |
low complexity region
|
520 |
527 |
N/A |
INTRINSIC |
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196001
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196282
|
SMART Domains |
Protein: ENSMUSP00000142363 Gene: ENSMUSG00000029427
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
48 |
83 |
N/A |
INTRINSIC |
ZnF_C2HC
|
231 |
247 |
4.13e-3 |
SMART |
PSP
|
286 |
338 |
3.04e-27 |
SMART |
low complexity region
|
410 |
434 |
N/A |
INTRINSIC |
low complexity region
|
464 |
500 |
N/A |
INTRINSIC |
low complexity region
|
520 |
527 |
N/A |
INTRINSIC |
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196333
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198826
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200503
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(12) : Gene trapped(12) |
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl4a |
T |
C |
12: 40,086,303 (GRCm39) |
E148G |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,939 (GRCm39) |
F419L |
probably damaging |
Het |
Brpf3 |
G |
A |
17: 29,054,758 (GRCm39) |
R1100Q |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,321,394 (GRCm39) |
C1222R |
probably damaging |
Het |
Cacna2d3 |
T |
A |
14: 29,022,785 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
T |
A |
5: 21,502,567 (GRCm39) |
M775L |
probably benign |
Het |
Ccdc60 |
A |
G |
5: 116,272,169 (GRCm39) |
S422P |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,899,849 (GRCm39) |
N59Y |
probably damaging |
Het |
Cfap61 |
T |
A |
2: 145,789,084 (GRCm39) |
C29* |
probably null |
Het |
Fgd5 |
T |
A |
6: 91,964,655 (GRCm39) |
M138K |
probably benign |
Het |
Gpr107 |
G |
A |
2: 31,104,329 (GRCm39) |
G545S |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,560,430 (GRCm39) |
A1897T |
probably damaging |
Het |
Hcls1 |
A |
G |
16: 36,782,781 (GRCm39) |
D439G |
probably damaging |
Het |
Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
Itga5 |
C |
T |
15: 103,260,036 (GRCm39) |
A619T |
probably damaging |
Het |
Maml3 |
A |
G |
3: 51,597,511 (GRCm39) |
F412L |
probably damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,183,600 (GRCm39) |
Y924C |
probably damaging |
Het |
Mtss1 |
T |
C |
15: 58,953,364 (GRCm39) |
I5V |
probably benign |
Het |
Ninl |
A |
T |
2: 150,797,631 (GRCm39) |
|
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Nts |
C |
T |
10: 102,318,290 (GRCm39) |
V138M |
probably damaging |
Het |
Or4q3 |
A |
G |
14: 50,583,312 (GRCm39) |
S165P |
probably damaging |
Het |
Or5b116 |
T |
A |
19: 13,423,299 (GRCm39) |
S308T |
probably benign |
Het |
Pard3 |
A |
G |
8: 128,153,128 (GRCm39) |
R900G |
probably damaging |
Het |
Rbfa |
T |
C |
18: 80,236,050 (GRCm39) |
H233R |
probably benign |
Het |
Rundc3a |
T |
A |
11: 102,288,521 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
G |
T |
3: 95,244,579 (GRCm39) |
|
probably null |
Het |
Synpo |
T |
A |
18: 60,736,872 (GRCm39) |
N358I |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,908,606 (GRCm39) |
T1543S |
possibly damaging |
Het |
Ugt1a8 |
T |
A |
1: 88,016,399 (GRCm39) |
Y271N |
probably benign |
Het |
Vmn2r105 |
A |
C |
17: 20,447,847 (GRCm39) |
F326V |
probably damaging |
Het |
Vps13c |
G |
A |
9: 67,883,133 (GRCm39) |
R3560H |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,801,595 (GRCm39) |
R3510Q |
probably benign |
Het |
|
Other mutations in Zcchc8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01341:Zcchc8
|
APN |
5 |
123,842,632 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01536:Zcchc8
|
APN |
5 |
123,858,782 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02083:Zcchc8
|
APN |
5 |
123,838,981 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Zcchc8
|
UTSW |
5 |
123,847,544 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4515001:Zcchc8
|
UTSW |
5 |
123,838,995 (GRCm39) |
missense |
probably benign |
0.23 |
R0127:Zcchc8
|
UTSW |
5 |
123,845,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1134:Zcchc8
|
UTSW |
5 |
123,855,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1604:Zcchc8
|
UTSW |
5 |
123,838,721 (GRCm39) |
missense |
probably benign |
0.00 |
R1744:Zcchc8
|
UTSW |
5 |
123,838,436 (GRCm39) |
nonsense |
probably null |
|
R2216:Zcchc8
|
UTSW |
5 |
123,845,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2303:Zcchc8
|
UTSW |
5 |
123,838,660 (GRCm39) |
missense |
probably benign |
0.00 |
R2877:Zcchc8
|
UTSW |
5 |
123,838,766 (GRCm39) |
missense |
probably benign |
0.05 |
R2964:Zcchc8
|
UTSW |
5 |
123,858,930 (GRCm39) |
missense |
probably benign |
0.00 |
R2966:Zcchc8
|
UTSW |
5 |
123,858,930 (GRCm39) |
missense |
probably benign |
0.00 |
R6831:Zcchc8
|
UTSW |
5 |
123,838,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R7908:Zcchc8
|
UTSW |
5 |
123,858,783 (GRCm39) |
critical splice donor site |
probably benign |
|
R8738:Zcchc8
|
UTSW |
5 |
123,841,070 (GRCm39) |
missense |
probably damaging |
0.99 |
R8791:Zcchc8
|
UTSW |
5 |
123,845,362 (GRCm39) |
missense |
probably benign |
0.06 |
R9487:Zcchc8
|
UTSW |
5 |
123,847,300 (GRCm39) |
missense |
probably damaging |
0.99 |
R9495:Zcchc8
|
UTSW |
5 |
123,838,633 (GRCm39) |
missense |
probably benign |
0.00 |
R9508:Zcchc8
|
UTSW |
5 |
123,842,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2015-12-18 |