Incidental Mutation 'R1195:Zfp639'
| ID |
101028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp639
|
| Ensembl Gene |
ENSMUSG00000027667 |
| Gene Name |
zinc finger protein 639 |
| Synonyms |
6230400O18Rik |
| MMRRC Submission |
039267-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R1195 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32564408-32574982 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32573345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 86
(V86I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029203]
[ENSMUST00000191783]
[ENSMUST00000192985]
[ENSMUST00000193119]
[ENSMUST00000193287]
|
| AlphaFold |
Q99KZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029203
AA Change: V86I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: V86I
| 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: ENSMUST00000191783
AA Change: V86I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: V86I
| 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: ENSMUST00000192985
AA Change: V42I
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193119
AA Change: V86I
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193287
AA Change: V86I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: V86I
| 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 |
unknown
Transcript: ENSMUST00000193789
AA Change: V49I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194126
|
| Meta Mutation Damage Score |
0.0578 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 81.3%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
| Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
| Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
| Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
| Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
| Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
| Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
| Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
| Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
| Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
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 |
|
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 |
|
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'- ACACACATGTTGCCGTCCAGTTT -3'
(R):5'- AACAGCCGTCCTCACTGCTGTA -3'
Sequencing Primer
(F):5'- CCTTAAGCTCCTTAGGATGTTCAGAG -3'
(R):5'- TGTAGCACTGCACTTAATAAGCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation