Incidental Mutation 'IGL00579:Zfp639'
| ID |
6917 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp639
|
| Ensembl Gene |
ENSMUSG00000027667 |
| Gene Name |
zinc finger protein 639 |
| Synonyms |
6230400O18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
IGL00579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32564408-32574982 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32574626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 417
(E417V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029203]
[ENSMUST00000191783]
[ENSMUST00000192985]
[ENSMUST00000193119]
[ENSMUST00000193287]
|
| AlphaFold |
Q99KZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029203
AA Change: E417V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: E417V
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
204 |
227 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
260 |
283 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
2.14e0 |
SMART |
|
ZnF_C2H2
|
317 |
340 |
3.47e0 |
SMART |
|
ZnF_C2H2
|
374 |
397 |
3.29e-1 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
431 |
454 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
460 |
482 |
1.67e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191783
AA Change: E417V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: E417V
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
204 |
227 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
260 |
283 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
2.14e0 |
SMART |
|
ZnF_C2H2
|
317 |
340 |
3.47e0 |
SMART |
|
ZnF_C2H2
|
374 |
397 |
3.29e-1 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
431 |
454 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
460 |
482 |
1.67e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193119
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193287
AA Change: E417V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: E417V
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
204 |
227 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
260 |
283 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
2.14e0 |
SMART |
|
ZnF_C2H2
|
317 |
340 |
3.47e0 |
SMART |
|
ZnF_C2H2
|
374 |
397 |
3.29e-1 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
431 |
454 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
460 |
482 |
1.67e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194126
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,773,794 (GRCm39) |
E365G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,152,100 (GRCm39) |
Y197H |
probably benign |
Het |
| Cept1 |
A |
T |
3: 106,413,119 (GRCm39) |
V202E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,611 (GRCm39) |
K263* |
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,412,691 (GRCm39) |
I451T |
possibly damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,035,728 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
A |
3: 129,491,447 (GRCm39) |
H850L |
probably benign |
Het |
| Gm11595 |
T |
C |
11: 99,662,868 (GRCm39) |
T271A |
unknown |
Het |
| Gorab |
T |
C |
1: 163,222,256 (GRCm39) |
E142G |
probably damaging |
Het |
| Gpat4 |
A |
G |
8: 23,672,791 (GRCm39) |
S20P |
probably damaging |
Het |
| Gpr83 |
T |
C |
9: 14,771,897 (GRCm39) |
V23A |
probably benign |
Het |
| Il13ra2 |
A |
G |
X: 146,177,386 (GRCm39) |
Y146H |
probably damaging |
Het |
| Kcnj16 |
C |
T |
11: 110,916,034 (GRCm39) |
T232M |
probably benign |
Het |
| Mdfic |
A |
T |
6: 15,741,073 (GRCm39) |
I61F |
possibly damaging |
Het |
| Mmp3 |
G |
T |
9: 7,445,894 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,470,486 (GRCm39) |
R227K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,556,666 (GRCm39) |
I257F |
possibly damaging |
Het |
| Oxsr1 |
T |
A |
9: 119,088,277 (GRCm39) |
R43S |
probably damaging |
Het |
| Pacc1 |
T |
C |
1: 191,060,405 (GRCm39) |
V21A |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,103 (GRCm39) |
D382G |
probably damaging |
Het |
| Slc35b2 |
G |
T |
17: 45,875,886 (GRCm39) |
V81L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,024,622 (GRCm39) |
R72H |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,534 (GRCm39) |
T117I |
probably damaging |
Het |
| Vps13a |
T |
A |
19: 16,684,726 (GRCm39) |
T953S |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,320 (GRCm39) |
C311W |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,830 (GRCm39) |
T247A |
possibly damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,454 (GRCm39) |
V194D |
possibly damaging |
Het |
|
| Other mutations in Zfp639 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Zfp639
|
APN |
3 |
32,573,902 (GRCm39) |
splice site |
probably null |
|
|
IGL00571:Zfp639
|
APN |
3 |
32,574,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01952:Zfp639
|
APN |
3 |
32,569,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4514001:Zfp639
|
UTSW |
3 |
32,574,409 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0412:Zfp639
|
UTSW |
3 |
32,571,259 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1195:Zfp639
|
UTSW |
3 |
32,573,345 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1195:Zfp639
|
UTSW |
3 |
32,573,345 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1195:Zfp639
|
UTSW |
3 |
32,573,345 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2906:Zfp639
|
UTSW |
3 |
32,573,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4660:Zfp639
|
UTSW |
3 |
32,574,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5109:Zfp639
|
UTSW |
3 |
32,574,585 (GRCm39) |
splice site |
probably null |
|
|
R6012:Zfp639
|
UTSW |
3 |
32,573,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Zfp639
|
UTSW |
3 |
32,571,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Zfp639
|
UTSW |
3 |
32,573,810 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7020:Zfp639
|
UTSW |
3 |
32,574,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8034:Zfp639
|
UTSW |
3 |
32,574,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9098:Zfp639
|
UTSW |
3 |
32,573,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9596:Zfp639
|
UTSW |
3 |
32,574,269 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2012-04-20 |
Incidental Mutation