Incidental Mutation 'R5427:Zfp709'
| ID |
426962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp709
|
| Ensembl Gene |
ENSMUSG00000056019 |
| Gene Name |
zinc finger protein 709 |
| Synonyms |
GIOT-4 |
| MMRRC Submission |
042993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R5427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72635912-72646409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72642976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 135
(E135G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034259]
[ENSMUST00000188374]
[ENSMUST00000188685]
|
| AlphaFold |
Q8VC29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034259
AA Change: E134G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034259
Gene: ENSMUSG00000056019
AA Change: E134G
| 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
AA Change: E135G
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140285
Gene: ENSMUSG00000056019
AA Change: E135G
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (58/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,248,385 (GRCm39) |
V277A |
possibly damaging |
Het |
| Adcy7 |
G |
A |
8: 89,052,829 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
A |
T |
8: 95,661,730 (GRCm39) |
D157V |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,378,617 (GRCm39) |
N2090S |
possibly damaging |
Het |
| Alpi |
T |
C |
1: 87,029,076 (GRCm39) |
N33D |
probably benign |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,284,598 (GRCm39) |
|
probably benign |
Het |
| Atg4b |
G |
C |
1: 93,702,928 (GRCm39) |
K86N |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,100,860 (GRCm39) |
T12A |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,414,275 (GRCm39) |
T377A |
possibly damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,796,821 (GRCm39) |
Q505R |
probably damaging |
Het |
| Cep135 |
T |
A |
5: 76,786,049 (GRCm39) |
S1051T |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,667,593 (GRCm39) |
D109G |
probably damaging |
Het |
| Crym |
A |
C |
7: 119,798,445 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
T |
A |
15: 78,173,111 (GRCm39) |
S250C |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,023,648 (GRCm39) |
V730E |
unknown |
Het |
| Eci3 |
G |
T |
13: 35,143,931 (GRCm39) |
L65M |
possibly damaging |
Het |
| Erg28 |
T |
C |
12: 85,866,341 (GRCm39) |
N46D |
probably damaging |
Het |
| Fam89b |
A |
G |
19: 5,778,819 (GRCm39) |
S127P |
probably benign |
Het |
| Fign |
A |
G |
2: 63,809,342 (GRCm39) |
Y643H |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,788,741 (GRCm39) |
V265A |
probably benign |
Het |
| Gclm |
T |
C |
3: 122,059,976 (GRCm39) |
V252A |
probably damaging |
Het |
| Git2 |
A |
G |
5: 114,868,389 (GRCm39) |
S584P |
possibly damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,421,059 (GRCm39) |
|
probably null |
Het |
| Kcnk3 |
A |
G |
5: 30,779,639 (GRCm39) |
T230A |
possibly damaging |
Het |
| Mettl25b |
T |
C |
3: 87,831,639 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
T |
C |
11: 68,693,757 (GRCm39) |
L1486P |
probably damaging |
Het |
| Myom2 |
C |
A |
8: 15,163,764 (GRCm39) |
A1006E |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nampt |
A |
T |
12: 32,884,914 (GRCm39) |
H111L |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,658,268 (GRCm39) |
Y671C |
probably damaging |
Het |
| Npy5r |
G |
A |
8: 67,133,672 (GRCm39) |
R374C |
probably damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,858 (GRCm39) |
K244N |
probably benign |
Het |
| Or5b123 |
A |
T |
19: 13,596,714 (GRCm39) |
S20C |
probably benign |
Het |
| Palld |
C |
T |
8: 62,003,106 (GRCm39) |
C720Y |
probably benign |
Het |
| Pcsk6 |
C |
T |
7: 65,683,647 (GRCm39) |
T606M |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,891,979 (GRCm39) |
I176M |
possibly damaging |
Het |
| Pi4kb |
A |
G |
3: 94,901,518 (GRCm39) |
D395G |
probably benign |
Het |
| Plod3 |
A |
T |
5: 137,020,642 (GRCm39) |
Y547F |
probably damaging |
Het |
| Plscr1l1 |
G |
A |
9: 92,234,649 (GRCm39) |
C128Y |
probably benign |
Het |
| Pnpo |
T |
C |
11: 96,834,633 (GRCm39) |
Y21C |
probably benign |
Het |
| Rgs1 |
A |
T |
1: 144,122,018 (GRCm39) |
C118* |
probably null |
Het |
| Slc22a27 |
A |
G |
19: 7,856,753 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,078,693 (GRCm39) |
V498I |
probably benign |
Het |
| Stim2 |
A |
T |
5: 54,268,281 (GRCm39) |
I448F |
possibly damaging |
Het |
| Sulf1 |
A |
T |
1: 12,867,136 (GRCm39) |
T107S |
possibly damaging |
Het |
| Tenm3 |
A |
G |
8: 48,689,599 (GRCm39) |
V1996A |
probably damaging |
Het |
| Timm23 |
G |
A |
14: 31,911,103 (GRCm39) |
T171I |
possibly damaging |
Het |
| Tssk2 |
A |
G |
16: 17,716,729 (GRCm39) |
D44G |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,489,376 (GRCm39) |
Y488N |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,585,333 (GRCm39) |
V668A |
possibly damaging |
Het |
| Zbtb48 |
A |
G |
4: 152,105,108 (GRCm39) |
F518S |
probably damaging |
Het |
| Zfp788 |
G |
A |
7: 41,299,076 (GRCm39) |
V571I |
possibly damaging |
Het |
| Zfp963 |
A |
G |
8: 70,196,106 (GRCm39) |
S116P |
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 |
|
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'- TTGGAGCATAGCAAAGGTACTG -3'
(R):5'- CAGGGTAATTAAAGGCATAATGCTGC -3'
Sequencing Primer
(F):5'- GCATAGCAAAGGTACTGAAAGTAAAG -3'
(R):5'- AAGGCATAATGCTGCTTATCTATAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation