Incidental Mutation 'IGL00542:Zcchc7'
| ID |
14916 |
| 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: 0.254)
|
| Stock # |
IGL00542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
44756556-44932215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44931462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 217
(P217L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107824]
[ENSMUST00000147272]
|
| AlphaFold |
B1AX39 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107823
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107824
AA Change: P538L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: P538L
| 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 |
probably benign
Transcript: ENSMUST00000147272
AA Change: P217L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: P217L
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Birc6 |
G |
A |
17: 74,930,766 (GRCm39) |
|
probably null |
Het |
| Cyp11b1 |
A |
T |
15: 74,707,702 (GRCm39) |
|
probably null |
Het |
| Elovl2 |
T |
C |
13: 41,338,790 (GRCm39) |
T287A |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,363,877 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,398,903 (GRCm39) |
|
probably null |
Het |
| Impg2 |
C |
T |
16: 56,081,968 (GRCm39) |
R858* |
probably null |
Het |
| Lrrk2 |
G |
A |
15: 91,584,146 (GRCm39) |
R302Q |
probably benign |
Het |
| Mgat4d |
T |
A |
8: 84,081,425 (GRCm39) |
H59Q |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,427,178 (GRCm39) |
M96T |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,321,192 (GRCm39) |
I1457F |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,935,771 (GRCm39) |
|
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,682 (GRCm39) |
D114G |
possibly damaging |
Het |
| Zfat |
T |
G |
15: 68,042,071 (GRCm39) |
D821A |
possibly damaging |
Het |
|
| Other mutations in Zcchc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Zcchc7
|
APN |
4 |
44,931,318 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
2012-12-06 |
Incidental Mutation