Incidental Mutation 'IGL00422:Zcchc7'
| ID |
6679 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zcchc7
|
| Ensembl Gene |
ENSMUSG00000035649 |
| Gene Name |
zinc finger, CCHC domain containing 7 |
| Synonyms |
4930572I07Rik, D4Wsu132e |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
IGL00422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
44756556-44932215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44931318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 490
(H490L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107824]
[ENSMUST00000147272]
|
| AlphaFold |
B1AX39 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107823
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107824
AA Change: H490L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: H490L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
237 |
253 |
4.13e-3 |
SMART |
|
ZnF_C2HC
|
259 |
275 |
1.51e0 |
SMART |
|
ZnF_C2HC
|
300 |
316 |
1.08e0 |
SMART |
|
low complexity region
|
324 |
336 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
344 |
360 |
9.16e-2 |
SMART |
|
low complexity region
|
497 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126968
|
| SMART Domains |
Protein: ENSMUSP00000125979
Gene: ENSMUSG00000035649
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
14 |
30 |
9.16e-2 |
SMART |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147272
AA Change: H169L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: H169L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
23 |
39 |
9.16e-2 |
SMART |
|
low complexity region
|
176 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
217 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
| Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
|
| Other mutations in Zcchc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00542:Zcchc7
|
APN |
4 |
44,931,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01309:Zcchc7
|
APN |
4 |
44,926,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01753:Zcchc7
|
APN |
4 |
44,929,217 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02186:Zcchc7
|
APN |
4 |
44,762,250 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02395:Zcchc7
|
APN |
4 |
44,761,868 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02423:Zcchc7
|
APN |
4 |
44,931,244 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03350:Zcchc7
|
APN |
4 |
44,931,188 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0371:Zcchc7
|
UTSW |
4 |
44,762,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Zcchc7
|
UTSW |
4 |
44,929,124 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2061:Zcchc7
|
UTSW |
4 |
44,895,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Zcchc7
|
UTSW |
4 |
44,931,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4274:Zcchc7
|
UTSW |
4 |
44,931,335 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4668:Zcchc7
|
UTSW |
4 |
44,895,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Zcchc7
|
UTSW |
4 |
44,931,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Zcchc7
|
UTSW |
4 |
44,762,245 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5397:Zcchc7
|
UTSW |
4 |
44,926,048 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5700:Zcchc7
|
UTSW |
4 |
44,931,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5891:Zcchc7
|
UTSW |
4 |
44,895,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Zcchc7
|
UTSW |
4 |
44,931,244 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5977:Zcchc7
|
UTSW |
4 |
44,894,982 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6005:Zcchc7
|
UTSW |
4 |
44,931,218 (GRCm39) |
frame shift |
probably null |
|
|
R6405:Zcchc7
|
UTSW |
4 |
44,926,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Zcchc7
|
UTSW |
4 |
44,895,043 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8178:Zcchc7
|
UTSW |
4 |
44,931,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9674:Zcchc7
|
UTSW |
4 |
44,931,418 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Posted On |
2012-04-20 |
Incidental Mutation