Incidental Mutation 'R6227:Zfp709'
ID |
504406 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp709
|
Ensembl Gene |
ENSMUSG00000056019 |
Gene Name |
zinc finger protein 709 |
Synonyms |
GIOT-4 |
MMRRC Submission |
044398-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R6227 (G1)
|
Quality Score |
217.468 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72635912-72646409 bp(+) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
TCGACG to TCG
at 72644552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034259]
[ENSMUST00000188374]
[ENSMUST00000188685]
|
AlphaFold |
Q8VC29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034259
|
SMART Domains |
Protein: ENSMUSP00000034259 Gene: ENSMUSG00000056019
Domain | Start | End | E-Value | Type |
KRAB
|
3 |
68 |
3.08e-15 |
SMART |
ZnF_C2H2
|
224 |
246 |
6.78e-3 |
SMART |
ZnF_C2H2
|
252 |
274 |
2.09e-3 |
SMART |
ZnF_C2H2
|
280 |
302 |
2.05e-2 |
SMART |
ZnF_C2H2
|
308 |
330 |
2.4e-3 |
SMART |
ZnF_C2H2
|
336 |
358 |
1.36e-2 |
SMART |
ZnF_C2H2
|
364 |
386 |
1.36e-2 |
SMART |
ZnF_C2H2
|
392 |
414 |
1.69e-3 |
SMART |
ZnF_C2H2
|
420 |
442 |
5.14e-3 |
SMART |
ZnF_C2H2
|
448 |
470 |
1.67e-2 |
SMART |
ZnF_C2H2
|
476 |
498 |
1.1e-2 |
SMART |
ZnF_C2H2
|
504 |
526 |
2.86e-1 |
SMART |
ZnF_C2H2
|
532 |
554 |
7.26e-3 |
SMART |
ZnF_C2H2
|
560 |
582 |
8.34e-3 |
SMART |
ZnF_C2H2
|
588 |
610 |
1.5e-4 |
SMART |
ZnF_C2H2
|
616 |
638 |
1.18e-2 |
SMART |
ZnF_C2H2
|
644 |
666 |
1.06e-4 |
SMART |
ZnF_C2H2
|
672 |
694 |
1.18e-2 |
SMART |
ZnF_C2H2
|
700 |
722 |
8.94e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188374
|
SMART Domains |
Protein: ENSMUSP00000141000 Gene: ENSMUSG00000056019
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
56 |
9.2e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188685
|
SMART Domains |
Protein: ENSMUSP00000140285 Gene: ENSMUSG00000056019
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
69 |
3.08e-15 |
SMART |
ZnF_C2H2
|
225 |
247 |
6.78e-3 |
SMART |
ZnF_C2H2
|
253 |
275 |
2.09e-3 |
SMART |
ZnF_C2H2
|
281 |
303 |
2.05e-2 |
SMART |
ZnF_C2H2
|
309 |
331 |
2.4e-3 |
SMART |
ZnF_C2H2
|
337 |
359 |
1.36e-2 |
SMART |
ZnF_C2H2
|
365 |
387 |
1.36e-2 |
SMART |
ZnF_C2H2
|
393 |
415 |
1.69e-3 |
SMART |
ZnF_C2H2
|
421 |
443 |
5.14e-3 |
SMART |
ZnF_C2H2
|
449 |
471 |
1.67e-2 |
SMART |
ZnF_C2H2
|
477 |
499 |
1.1e-2 |
SMART |
ZnF_C2H2
|
505 |
527 |
2.86e-1 |
SMART |
ZnF_C2H2
|
533 |
555 |
7.26e-3 |
SMART |
ZnF_C2H2
|
561 |
583 |
8.34e-3 |
SMART |
ZnF_C2H2
|
589 |
611 |
1.5e-4 |
SMART |
ZnF_C2H2
|
617 |
639 |
1.18e-2 |
SMART |
ZnF_C2H2
|
645 |
667 |
1.06e-4 |
SMART |
ZnF_C2H2
|
673 |
695 |
1.18e-2 |
SMART |
ZnF_C2H2
|
701 |
723 |
8.94e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203585
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (61/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
C |
2: 19,558,581 (GRCm39) |
|
probably null |
Het |
Abca4 |
T |
A |
3: 121,930,743 (GRCm39) |
Y205* |
probably null |
Het |
Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,510,841 (GRCm39) |
D550G |
possibly damaging |
Het |
Bicd1 |
T |
A |
6: 149,414,674 (GRCm39) |
Y462* |
probably null |
Het |
Cfap97 |
T |
C |
8: 46,644,769 (GRCm39) |
|
probably null |
Het |
Csf1r |
T |
A |
18: 61,258,900 (GRCm39) |
Y706* |
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dst |
A |
G |
1: 34,233,621 (GRCm39) |
D3443G |
probably benign |
Het |
Fktn |
C |
T |
4: 53,731,136 (GRCm39) |
A96V |
probably benign |
Het |
Inppl1 |
G |
A |
7: 101,473,506 (GRCm39) |
T1048M |
possibly damaging |
Het |
Itga2 |
T |
C |
13: 114,976,097 (GRCm39) |
T1092A |
probably benign |
Het |
Lactbl1 |
C |
A |
4: 136,365,229 (GRCm39) |
A527E |
probably benign |
Het |
Miga1 |
C |
T |
3: 151,984,586 (GRCm39) |
A510T |
probably benign |
Het |
Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
Naca |
T |
G |
10: 127,879,785 (GRCm39) |
|
probably benign |
Het |
Or51f5 |
A |
T |
7: 102,423,883 (GRCm39) |
I51F |
probably damaging |
Het |
Or52l1 |
T |
C |
7: 104,829,917 (GRCm39) |
Y216C |
probably damaging |
Het |
Or6c69 |
T |
A |
10: 129,747,536 (GRCm39) |
T204S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,783,862 (GRCm39) |
M1986K |
probably damaging |
Het |
Pex6 |
T |
A |
17: 47,023,034 (GRCm39) |
D203E |
probably benign |
Het |
Rlbp1 |
T |
C |
7: 79,029,876 (GRCm39) |
N119S |
probably benign |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Rusc1 |
T |
A |
3: 88,999,048 (GRCm39) |
T245S |
probably benign |
Het |
Slc26a5 |
A |
T |
5: 22,026,095 (GRCm39) |
C378S |
probably damaging |
Het |
Smtn |
A |
G |
11: 3,477,624 (GRCm39) |
|
probably benign |
Het |
Tes3-ps |
T |
C |
13: 49,647,516 (GRCm39) |
C131R |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,911,190 (GRCm39) |
E331G |
probably null |
Het |
Tlr4 |
T |
C |
4: 66,758,832 (GRCm39) |
Y542H |
probably benign |
Het |
Trf |
G |
A |
9: 103,107,504 (GRCm39) |
|
probably benign |
Het |
Trim75 |
T |
A |
8: 65,435,748 (GRCm39) |
H234L |
probably benign |
Het |
Zan |
T |
G |
5: 137,466,605 (GRCm39) |
R417S |
probably damaging |
Het |
Zfp213 |
T |
C |
17: 23,776,996 (GRCm39) |
T349A |
probably benign |
Het |
|
Other mutations in Zfp709 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03174:Zfp709
|
APN |
8 |
72,642,870 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03187:Zfp709
|
APN |
8 |
72,643,126 (GRCm39) |
missense |
probably benign |
0.41 |
BB007:Zfp709
|
UTSW |
8 |
72,644,684 (GRCm39) |
missense |
probably damaging |
0.97 |
BB017:Zfp709
|
UTSW |
8 |
72,644,684 (GRCm39) |
missense |
probably damaging |
0.97 |
R0336:Zfp709
|
UTSW |
8 |
72,644,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Zfp709
|
UTSW |
8 |
72,644,506 (GRCm39) |
missense |
probably damaging |
0.99 |
R1878:Zfp709
|
UTSW |
8 |
72,643,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R2279:Zfp709
|
UTSW |
8 |
72,642,934 (GRCm39) |
missense |
probably benign |
0.31 |
R2320:Zfp709
|
UTSW |
8 |
72,641,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2885:Zfp709
|
UTSW |
8 |
72,643,549 (GRCm39) |
missense |
probably benign |
0.08 |
R3833:Zfp709
|
UTSW |
8 |
72,642,906 (GRCm39) |
missense |
probably benign |
0.00 |
R3926:Zfp709
|
UTSW |
8 |
72,644,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R4165:Zfp709
|
UTSW |
8 |
72,644,649 (GRCm39) |
nonsense |
probably null |
|
R4179:Zfp709
|
UTSW |
8 |
72,643,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R4963:Zfp709
|
UTSW |
8 |
72,643,632 (GRCm39) |
missense |
probably benign |
0.27 |
R5340:Zfp709
|
UTSW |
8 |
72,643,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R5427:Zfp709
|
UTSW |
8 |
72,642,976 (GRCm39) |
missense |
probably benign |
0.27 |
R5513:Zfp709
|
UTSW |
8 |
72,643,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R5639:Zfp709
|
UTSW |
8 |
72,643,835 (GRCm39) |
splice site |
probably null |
|
R5692:Zfp709
|
UTSW |
8 |
72,643,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5872:Zfp709
|
UTSW |
8 |
72,643,363 (GRCm39) |
missense |
probably benign |
0.03 |
R5940:Zfp709
|
UTSW |
8 |
72,644,064 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6192:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6210:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6225:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6228:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6246:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6247:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6248:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6249:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6250:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6258:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6259:Zfp709
|
UTSW |
8 |
72,644,552 (GRCm39) |
small deletion |
probably benign |
|
R6371:Zfp709
|
UTSW |
8 |
72,643,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Zfp709
|
UTSW |
8 |
72,642,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7871:Zfp709
|
UTSW |
8 |
72,643,308 (GRCm39) |
missense |
probably benign |
0.02 |
R7930:Zfp709
|
UTSW |
8 |
72,644,684 (GRCm39) |
missense |
probably damaging |
0.97 |
R7943:Zfp709
|
UTSW |
8 |
72,643,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R8202:Zfp709
|
UTSW |
8 |
72,642,760 (GRCm39) |
splice site |
probably null |
|
R8555:Zfp709
|
UTSW |
8 |
72,643,476 (GRCm39) |
missense |
probably benign |
0.04 |
R8735:Zfp709
|
UTSW |
8 |
72,643,027 (GRCm39) |
missense |
probably benign |
0.01 |
R9109:Zfp709
|
UTSW |
8 |
72,644,648 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9298:Zfp709
|
UTSW |
8 |
72,644,648 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9485:Zfp709
|
UTSW |
8 |
72,643,669 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9740:Zfp709
|
UTSW |
8 |
72,643,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTTCTTTGAGTGGTTGTCAAA -3'
(R):5'- GCTAAGAATGCCTTTCCATGTT -3'
Sequencing Primer
(F):5'- GGGAAAGCCTTTACTAATCCCAGTG -3'
(R):5'- ATACTTAGGGACTTCTACTGTGAGTC -3'
|
Posted On |
2018-02-28 |