Incidental Mutation 'R6250:Zfp709'
| ID |
505916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp709
|
| Ensembl Gene |
ENSMUSG00000056019 |
| Gene Name |
zinc finger protein 709 |
| Synonyms |
GIOT-4 |
| MMRRC Submission |
044367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6250 (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: 95.5%
|
| Validation Efficiency |
98% (60/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
T |
C |
2: 150,681,667 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,030 (GRCm39) |
V929A |
possibly damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,887,514 (GRCm39) |
F49S |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,799,736 (GRCm39) |
H801R |
probably benign |
Het |
| B430218F22Rik |
A |
G |
13: 118,523,944 (GRCm39) |
|
probably benign |
Het |
| Ccnd3 |
T |
A |
17: 47,908,487 (GRCm39) |
L186* |
probably null |
Het |
| Cnbd1 |
T |
A |
4: 19,098,255 (GRCm39) |
Q55L |
probably benign |
Het |
| Commd10 |
A |
G |
18: 47,096,755 (GRCm39) |
E54G |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,522,907 (GRCm39) |
V151A |
probably benign |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Disp2 |
A |
T |
2: 118,621,247 (GRCm39) |
I660F |
probably damaging |
Het |
| Eef1a2 |
A |
G |
2: 180,792,853 (GRCm39) |
F211L |
possibly damaging |
Het |
| Epb41 |
A |
T |
4: 131,717,184 (GRCm39) |
F323L |
probably damaging |
Het |
| Eps8l3 |
A |
T |
3: 107,797,781 (GRCm39) |
I403F |
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,203,209 (GRCm39) |
V282D |
probably damaging |
Het |
| Faim |
A |
T |
9: 98,874,176 (GRCm39) |
M1L |
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,619,543 (GRCm39) |
F111L |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,850,139 (GRCm39) |
G1195D |
probably damaging |
Het |
| Glrx |
A |
T |
13: 75,988,229 (GRCm39) |
I48F |
probably damaging |
Het |
| Gucy2g |
A |
T |
19: 55,205,856 (GRCm39) |
L668Q |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,477,561 (GRCm39) |
D2828G |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,503 (GRCm39) |
V1367A |
probably benign |
Het |
| Hrob |
A |
G |
11: 102,145,888 (GRCm39) |
T55A |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,769,351 (GRCm39) |
V147A |
possibly damaging |
Het |
| Jchain |
T |
C |
5: 88,674,034 (GRCm39) |
T37A |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,298,100 (GRCm39) |
V1034A |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,211,989 (GRCm39) |
N216I |
probably damaging |
Het |
| Mfsd4b1 |
T |
C |
10: 39,879,106 (GRCm39) |
S264G |
possibly damaging |
Het |
| Mxra8 |
G |
T |
4: 155,925,546 (GRCm39) |
R82L |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,625 (GRCm39) |
I406N |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,363 (GRCm39) |
L18P |
possibly damaging |
Het |
| Or2y11 |
A |
T |
11: 49,442,711 (GRCm39) |
I46F |
probably damaging |
Het |
| Or5h23 |
G |
A |
16: 58,906,195 (GRCm39) |
S217F |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 136,016,189 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,426 (GRCm39) |
R222G |
probably benign |
Het |
| Pik3cb |
A |
C |
9: 98,976,651 (GRCm39) |
F149V |
probably benign |
Het |
| Plscr4 |
G |
A |
9: 92,366,881 (GRCm39) |
R165Q |
possibly damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,276,403 (GRCm39) |
V34E |
probably damaging |
Het |
| Prpf8 |
T |
G |
11: 75,384,334 (GRCm39) |
S659R |
possibly damaging |
Het |
| Ptprd |
A |
G |
4: 76,047,232 (GRCm39) |
S342P |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,794,755 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
T |
G |
17: 56,984,208 (GRCm39) |
|
probably null |
Het |
| Rassf7 |
A |
G |
7: 140,797,156 (GRCm39) |
E123G |
probably damaging |
Het |
| Rcor1 |
G |
T |
12: 111,078,311 (GRCm39) |
A469S |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,785,196 (GRCm39) |
P524Q |
probably damaging |
Het |
| Rnf44 |
A |
T |
13: 54,829,920 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
C |
2: 119,505,658 (GRCm39) |
V37A |
unknown |
Het |
| Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,901,217 (GRCm39) |
T817A |
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,390,471 (GRCm39) |
E506G |
unknown |
Het |
| Slc30a8 |
G |
A |
15: 52,198,545 (GRCm39) |
R330Q |
probably benign |
Het |
| Snx22 |
C |
A |
9: 65,976,923 (GRCm39) |
E14* |
probably null |
Het |
| Spata31d1a |
A |
G |
13: 59,849,615 (GRCm39) |
S838P |
possibly damaging |
Het |
| Sprr4 |
G |
T |
3: 92,407,770 (GRCm39) |
Q11K |
unknown |
Het |
| Trpm3 |
A |
G |
19: 22,887,418 (GRCm39) |
N839S |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,974,947 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
T |
C |
1: 37,090,966 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,552,893 (GRCm39) |
T414A |
probably 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 |
|
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 |
|
|
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'- TCTCTTCTTTGAGTGGTTGTCAAA -3'
(R):5'- CCTTTCCATGTTCTATACTTAGGGAC -3'
Sequencing Primer
(F):5'- GGGAAAGCCTTTACTAATCCCAGTG -3'
(R):5'- ATACTTAGGGACTTCTACTGTGAGTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation