Incidental Mutation 'PIT4514001:Zfp639'
ID |
556256 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4514001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
32564408-32574982 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32574409 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 345
(I345V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029203
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029203]
[ENSMUST00000191783]
[ENSMUST00000192985]
[ENSMUST00000193119]
[ENSMUST00000193287]
|
AlphaFold |
Q99KZ6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029203
AA Change: I345V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029203 Gene: ENSMUSG00000027667 AA Change: I345V
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 |
possibly damaging
Transcript: ENSMUST00000191783
AA Change: I345V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141446 Gene: ENSMUSG00000027667 AA Change: I345V
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 |
possibly damaging
Transcript: ENSMUST00000193287
AA Change: I345V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141341 Gene: ENSMUSG00000027667 AA Change: I345V
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 null
Transcript: ENSMUST00000193789
AA Change: *152W
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.6%
- 10x: 84.2%
- 20x: 70.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
G |
13: 61,001,328 (GRCm39) |
|
probably null |
Het |
Aadacl4fm2 |
T |
C |
4: 144,282,081 (GRCm39) |
Y237C |
probably damaging |
Het |
Abcc10 |
T |
A |
17: 46,616,574 (GRCm39) |
I1247F |
probably benign |
Het |
Acap3 |
G |
A |
4: 155,987,835 (GRCm39) |
A524T |
probably benign |
Het |
Adcy10 |
T |
A |
1: 165,384,360 (GRCm39) |
N1040K |
probably benign |
Het |
Adrb2 |
T |
C |
18: 62,312,798 (GRCm39) |
D9G |
probably benign |
Het |
Aldh1a7 |
T |
C |
19: 20,679,604 (GRCm39) |
T391A |
probably benign |
Het |
Bcam |
A |
G |
7: 19,497,991 (GRCm39) |
V344A |
probably benign |
Het |
Birc7 |
T |
A |
2: 180,573,099 (GRCm39) |
I172N |
possibly damaging |
Het |
Cfap126 |
G |
A |
1: 170,952,881 (GRCm39) |
D45N |
probably damaging |
Het |
Cfap299 |
T |
A |
5: 98,949,730 (GRCm39) |
H221Q |
probably benign |
Het |
Cit |
G |
A |
5: 116,135,913 (GRCm39) |
|
probably null |
Het |
Col26a1 |
A |
G |
5: 136,780,579 (GRCm39) |
V295A |
probably benign |
Het |
Efcab15 |
T |
C |
11: 103,091,960 (GRCm39) |
D27G |
probably benign |
Het |
Epha7 |
C |
T |
4: 28,961,355 (GRCm39) |
Q867* |
probably null |
Het |
Fn1 |
A |
G |
1: 71,667,615 (GRCm39) |
S793P |
probably benign |
Het |
Foxb1 |
T |
A |
9: 69,667,503 (GRCm39) |
Y9F |
probably damaging |
Het |
Gpc1 |
T |
A |
1: 92,785,279 (GRCm39) |
M406K |
probably benign |
Het |
Gsg1 |
T |
C |
6: 135,214,574 (GRCm39) |
T312A |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,545,238 (GRCm39) |
I2790F |
possibly damaging |
Het |
Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
Lmntd1 |
AGACTGTAAGTTTCTCAAATGTGTACCTGGA |
AGA |
6: 145,372,979 (GRCm39) |
|
probably null |
Het |
Mcph1 |
A |
G |
8: 18,681,906 (GRCm39) |
K348E |
probably damaging |
Het |
Or10al6 |
T |
A |
17: 38,082,758 (GRCm39) |
N71K |
probably damaging |
Het |
Or8d4 |
T |
C |
9: 40,038,595 (GRCm39) |
I221V |
probably damaging |
Het |
Pik3cg |
T |
A |
12: 32,254,902 (GRCm39) |
R362W |
probably damaging |
Het |
Pkp3 |
T |
C |
7: 140,669,623 (GRCm39) |
L765P |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,477,245 (GRCm39) |
I1252F |
probably benign |
Het |
Prpf8 |
T |
C |
11: 75,387,181 (GRCm39) |
F1154S |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,514,523 (GRCm39) |
F1084L |
probably damaging |
Het |
Shmt1 |
G |
A |
11: 60,695,173 (GRCm39) |
S47L |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,761,486 (GRCm39) |
K40R |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,920,527 (GRCm39) |
T421S |
possibly damaging |
Het |
Speer4f1 |
T |
A |
5: 17,683,754 (GRCm39) |
N139K |
possibly damaging |
Het |
Syne2 |
T |
G |
12: 76,151,789 (GRCm39) |
N1883K |
probably damaging |
Het |
Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
Tmem39b |
A |
C |
4: 129,578,290 (GRCm39) |
N310K |
possibly damaging |
Het |
Trim3 |
T |
C |
7: 105,267,417 (GRCm39) |
T321A |
probably benign |
Het |
Vmn2r124 |
T |
C |
17: 18,293,974 (GRCm39) |
I687T |
probably benign |
Het |
Zbtb8a |
T |
C |
4: 129,251,523 (GRCm39) |
D316G |
probably benign |
Het |
Zfp764 |
T |
C |
7: 127,003,913 (GRCm39) |
H406R |
probably benign |
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 |
IGL00579:Zfp639
|
APN |
3 |
32,574,626 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01952:Zfp639
|
APN |
3 |
32,569,496 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGTGTGAGCAGTGTGAC -3'
(R):5'- AGATGCTTGCAATATTCCAACATGC -3'
Sequencing Primer
(F):5'- GTGACGTGCAGTTCTCCTCAAG -3'
(R):5'- ACAGTCATCACAAACATGAGGG -3'
|
Posted On |
2019-06-07 |