Incidental Mutation 'IGL01753:Zcchc7'
| ID |
153164 |
| 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 # |
IGL01753
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
44756556-44932215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44929217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 390
(I390V)
|
| 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 |
probably benign
Transcript: ENSMUST00000107824
AA Change: I390V
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: I390V
| 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 |
unknown
Transcript: ENSMUST00000126968
AA Change: I59V
|
| SMART Domains |
Protein: ENSMUSP00000125979
Gene: ENSMUSG00000035649
AA Change: I59V
| 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: I69V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: I69V
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,212,799 (GRCm39) |
T60A |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,082,776 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,087,015 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,179,169 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,557,598 (GRCm39) |
Q187* |
probably null |
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 |
| Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,869,530 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
| Trerf1 |
T |
A |
17: 47,626,362 (GRCm39) |
|
noncoding transcript |
Het |
| Uso1 |
T |
C |
5: 92,300,777 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
| Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation