Incidental Mutation 'R9109:Zfp709'
| ID |
692145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp709
|
| Ensembl Gene |
ENSMUSG00000056019 |
| Gene Name |
zinc finger protein 709 |
| Synonyms |
GIOT-4 |
| MMRRC Submission |
068918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R9109 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72635912-72646409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72644648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 692
(E692D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034259]
[ENSMUST00000188374]
[ENSMUST00000188685]
|
| AlphaFold |
Q8VC29 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034259
AA Change: E691D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034259
Gene: ENSMUSG00000056019
AA Change: E691D
| 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 |
possibly damaging
Transcript: ENSMUST00000188685
AA Change: E692D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140285
Gene: ENSMUSG00000056019
AA Change: E692D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
A |
8: 73,198,923 (GRCm39) |
A110D |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,615 (GRCm39) |
E504G |
probably benign |
Het |
| 4931406B18Rik |
C |
A |
7: 43,148,702 (GRCm39) |
A170S |
|
Het |
| Apbb2 |
T |
C |
5: 66,609,018 (GRCm39) |
K210E |
probably benign |
Het |
| Arid4a |
C |
A |
12: 71,122,129 (GRCm39) |
L515I |
probably damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,134,716 (GRCm39) |
S1186P |
possibly damaging |
Het |
| Brf1 |
A |
G |
12: 112,927,011 (GRCm39) |
Y500H |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,964,114 (GRCm39) |
Y895C |
probably benign |
Het |
| Cdhr17 |
T |
A |
5: 16,997,909 (GRCm39) |
V47E |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,391,571 (GRCm39) |
T737A |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Col18a1 |
G |
A |
10: 76,893,204 (GRCm39) |
T1057M |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
C |
15: 47,617,187 (GRCm39) |
H1000Q |
|
Het |
| Cyp4a29 |
T |
A |
4: 115,108,395 (GRCm39) |
M373K |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,333,173 (GRCm39) |
E215G |
probably damaging |
Het |
| Dusp19 |
T |
C |
2: 80,447,729 (GRCm39) |
M1T |
probably null |
Het |
| Etv4 |
A |
G |
11: 101,664,492 (GRCm39) |
Y253H |
probably benign |
Het |
| Exosc6 |
G |
A |
8: 111,783,513 (GRCm39) |
A171T |
probably damaging |
Het |
| Fam219a |
G |
A |
4: 41,521,870 (GRCm39) |
T70M |
probably damaging |
Het |
| Fau |
G |
A |
19: 6,108,297 (GRCm39) |
R6H |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,501,879 (GRCm39) |
D583G |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,011,869 (GRCm39) |
C192* |
probably null |
Het |
| Gm4353 |
T |
A |
7: 115,682,843 (GRCm39) |
N246I |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,926,327 (GRCm39) |
L41P |
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,622,560 (GRCm39) |
I307F |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,353,035 (GRCm39) |
V248D |
probably damaging |
Het |
| Kctd14 |
A |
G |
7: 97,107,243 (GRCm39) |
K166R |
probably benign |
Het |
| Kdm5b |
T |
C |
1: 134,528,493 (GRCm39) |
|
probably null |
Het |
| Kif5c |
A |
G |
2: 49,620,151 (GRCm39) |
D461G |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,538,516 (GRCm39) |
|
probably null |
Het |
| Mettl22 |
G |
A |
16: 8,305,231 (GRCm39) |
D295N |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,635,640 (GRCm39) |
I93F |
probably damaging |
Het |
| Or5b95 |
T |
A |
19: 12,658,190 (GRCm39) |
C239* |
probably null |
Het |
| Or5k8 |
A |
T |
16: 58,644,677 (GRCm39) |
Y132N |
probably damaging |
Het |
| Pecam1 |
G |
T |
11: 106,586,587 (GRCm39) |
N309K |
probably damaging |
Het |
| Pigc |
C |
T |
1: 161,798,032 (GRCm39) |
R5C |
probably benign |
Het |
| Pih1d1 |
T |
C |
7: 44,809,193 (GRCm39) |
V259A |
possibly damaging |
Het |
| Ptpre |
A |
G |
7: 135,271,508 (GRCm39) |
I374M |
probably benign |
Het |
| Rnps1 |
A |
G |
17: 24,637,573 (GRCm39) |
S72G |
unknown |
Het |
| S100pbp |
A |
G |
4: 129,044,847 (GRCm39) |
Y363H |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,619,040 (GRCm39) |
T523A |
probably benign |
Het |
| Slc38a8 |
A |
G |
8: 120,212,851 (GRCm39) |
F270S |
possibly damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,693,538 (GRCm39) |
S491P |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,300,300 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc7a6 |
T |
C |
8: 106,922,534 (GRCm39) |
V440A |
probably damaging |
Het |
| Sobp |
A |
T |
10: 42,898,902 (GRCm39) |
C228S |
probably damaging |
Het |
| Sox8 |
T |
C |
17: 25,787,813 (GRCm39) |
D212G |
possibly damaging |
Het |
| Specc1 |
A |
G |
11: 62,102,464 (GRCm39) |
|
probably null |
Het |
| Svop |
G |
A |
5: 114,168,231 (GRCm39) |
T456M |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,900,278 (GRCm39) |
D750G |
probably damaging |
Het |
| Syt14 |
C |
A |
1: 192,612,944 (GRCm39) |
E336* |
probably null |
Het |
| Tcp10c |
A |
T |
17: 13,576,650 (GRCm39) |
Q76H |
probably damaging |
Het |
| Tcp11l1 |
C |
T |
2: 104,528,897 (GRCm39) |
V134I |
possibly damaging |
Het |
| Tex51 |
T |
C |
18: 32,594,029 (GRCm39) |
R110G |
possibly damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,562 (GRCm39) |
H443Q |
possibly damaging |
Het |
| Unc13a |
C |
T |
8: 72,108,335 (GRCm39) |
R506Q |
possibly damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,174,224 (GRCm39) |
Y542C |
possibly damaging |
Het |
| Vmn2r5 |
T |
G |
3: 64,411,411 (GRCm39) |
N386H |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,327,905 (GRCm39) |
I500V |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,760,704 (GRCm39) |
|
probably null |
Het |
| Zglp1 |
A |
T |
9: 20,977,482 (GRCm39) |
L111Q |
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 |
|
|
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 |
|
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'- TTCTCTTCTTTGAGTGGTTGTCAAA -3'
(R):5'- AACATGGCCCCGGGTCTC -3'
Sequencing Primer
(F):5'- GGGAAAGCCTTTACTAATCCCAGTG -3'
(R):5'- GGGTCTCTGCCCGATGC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation