Incidental Mutation 'R4165:Zfp709'
| ID |
321696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp709
|
| Ensembl Gene |
ENSMUSG00000056019 |
| Gene Name |
zinc finger protein 709 |
| Synonyms |
GIOT-4 |
| MMRRC Submission |
041007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R4165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72635912-72646409 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 72644649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 693
(Q693*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034259]
[ENSMUST00000188374]
[ENSMUST00000188685]
|
| AlphaFold |
Q8VC29 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034259
AA Change: Q692*
|
| SMART Domains |
Protein: ENSMUSP00000034259
Gene: ENSMUSG00000056019
AA Change: Q692*
| 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 null
Transcript: ENSMUST00000188685
AA Change: Q693*
|
| SMART Domains |
Protein: ENSMUSP00000140285
Gene: ENSMUSG00000056019
AA Change: Q693*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
| Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
| Alg11 |
T |
C |
8: 22,555,573 (GRCm39) |
V278A |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Avil |
C |
T |
10: 126,842,496 (GRCm39) |
Q92* |
probably null |
Het |
| Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,864,522 (GRCm39) |
S36T |
possibly damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,514,883 (GRCm39) |
S7P |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,895 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv15-103 |
G |
T |
6: 68,414,824 (GRCm39) |
G88* |
probably null |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
| Larp7 |
A |
G |
3: 127,330,611 (GRCm39) |
Y569H |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,446 (GRCm38) |
I189V |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,217,008 (GRCm39) |
I668K |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prap1 |
T |
A |
7: 139,676,091 (GRCm39) |
V35E |
probably benign |
Het |
| Prdm1 |
T |
A |
10: 44,317,572 (GRCm39) |
Y417F |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rps3 |
T |
C |
7: 99,132,816 (GRCm39) |
I5V |
probably benign |
Het |
| Sema3a |
A |
T |
5: 13,523,364 (GRCm39) |
|
probably null |
Het |
| Serpina3g |
A |
T |
12: 104,206,546 (GRCm39) |
T116S |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,040,773 (GRCm39) |
S493P |
possibly damaging |
Het |
| Snapc1 |
G |
T |
12: 74,029,354 (GRCm39) |
|
probably null |
Het |
| Sobp |
C |
T |
10: 42,897,644 (GRCm39) |
G647D |
probably damaging |
Het |
| Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,978,003 (GRCm39) |
|
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,427 (GRCm39) |
F61L |
possibly damaging |
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 |
|
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 |
|
|
R6227: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'- AAAGATTTCTCTTCTTTGAGTGGTT -3'
(R):5'- AACATGGCCCCGGGTCTC -3'
Sequencing Primer
(F):5'- GGGAAAGCCTTTACTAATCCCAGTG -3'
(R):5'- GGGTCTCTGCCCGATGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation