Incidental Mutation 'R2906:Zfp639'
ID |
261643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp639
|
Ensembl Gene |
ENSMUSG00000027667 |
Gene Name |
zinc finger protein 639 |
Synonyms |
6230400O18Rik |
MMRRC Submission |
040493-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R2906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
32564408-32574982 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32573900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 175
(L175P)
|
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: L175P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029203 Gene: ENSMUSG00000027667 AA Change: L175P
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: L175P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141446 Gene: ENSMUSG00000027667 AA Change: L175P
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: L175P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141341 Gene: ENSMUSG00000027667 AA Change: L175P
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 |
noncoding transcript
Transcript: ENSMUST00000194126
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193789
|
Meta Mutation Damage Score |
0.0700 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (37/38) |
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 |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,308,694 (GRCm39) |
I800T |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,573,292 (GRCm39) |
T170M |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,871,850 (GRCm39) |
T432A |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,696,267 (GRCm39) |
|
probably benign |
Het |
Ddx4 |
G |
T |
13: 112,757,311 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Duoxa1 |
C |
T |
2: 122,135,155 (GRCm39) |
V197M |
probably benign |
Het |
Gm6430 |
A |
T |
1: 96,952,554 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2a1l |
G |
A |
17: 89,002,083 (GRCm39) |
R313H |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,616,643 (GRCm39) |
M1K |
probably null |
Het |
Lce1k |
T |
C |
3: 92,713,882 (GRCm39) |
S101G |
unknown |
Het |
Med12l |
T |
C |
3: 59,164,503 (GRCm39) |
L1365P |
probably damaging |
Het |
Mtx2 |
T |
C |
2: 74,697,253 (GRCm39) |
S83P |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,504 (GRCm39) |
C511G |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,890,216 (GRCm39) |
I801T |
probably benign |
Het |
Or8g24 |
A |
G |
9: 38,989,669 (GRCm39) |
V124A |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,010,823 (GRCm39) |
I248V |
probably benign |
Het |
Pcdhgb2 |
A |
T |
18: 37,823,908 (GRCm39) |
I300F |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,992,272 (GRCm39) |
A1285V |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,250,297 (GRCm39) |
L172P |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Rpusd1 |
T |
C |
17: 25,949,705 (GRCm39) |
S292P |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,351,146 (GRCm39) |
V172A |
probably damaging |
Het |
Snx25 |
T |
C |
8: 46,502,560 (GRCm39) |
|
probably null |
Het |
Tmprss11g |
A |
G |
5: 86,640,661 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
G |
C |
6: 113,369,471 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Usp45 |
T |
A |
4: 21,834,338 (GRCm39) |
Y805* |
probably null |
Het |
Zfp995 |
T |
C |
17: 22,099,247 (GRCm39) |
D329G |
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 |
R1195:Zfp639
|
UTSW |
3 |
32,573,345 (GRCm39) |
missense |
possibly damaging |
0.92 |
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'- CTGTGATGAAGAATGTGCCTCAC -3'
(R):5'- AGAAGCTTTCCTTACACACCCG -3'
Sequencing Primer
(F):5'- TGAAGAATGTGCCTCACCTGAGTC -3'
(R):5'- GACACACATTCGAGTCAGTGCG -3'
|
Posted On |
2015-01-23 |