Incidental Mutation 'R5639:Zfp709'
| ID |
440546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp709
|
| Ensembl Gene |
ENSMUSG00000056019 |
| Gene Name |
zinc finger protein 709 |
| Synonyms |
GIOT-4 |
| MMRRC Submission |
043288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R5639 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72635912-72646409 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1929 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 72643835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034259]
[ENSMUST00000188374]
[ENSMUST00000188685]
|
| AlphaFold |
Q8VC29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034259
AA Change: H420Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034259
Gene: ENSMUSG00000056019
AA Change: H420Q
| 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 null
Transcript: ENSMUST00000188374
|
| SMART Domains |
Protein: ENSMUSP00000141000
Gene: ENSMUSG00000056019
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
56 |
9.2e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188685
AA Change: H421Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140285
Gene: ENSMUSG00000056019
AA Change: H421Q
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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 |
|---|
| Aars1 |
T |
C |
8: 111,769,866 (GRCm39) |
Y322H |
probably benign |
Het |
| Aldh1a1 |
C |
A |
19: 20,600,786 (GRCm39) |
T201K |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,516,685 (GRCm39) |
E493G |
possibly damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Bicc1 |
A |
T |
10: 70,776,350 (GRCm39) |
V701E |
probably damaging |
Het |
| Car11 |
T |
A |
7: 45,352,045 (GRCm39) |
|
probably null |
Het |
| Ccn1 |
A |
C |
3: 145,354,452 (GRCm39) |
V153G |
probably damaging |
Het |
| Celsr1 |
C |
G |
15: 85,914,968 (GRCm39) |
V1002L |
probably damaging |
Het |
| Clpx |
T |
A |
9: 65,237,112 (GRCm39) |
S597T |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,519,149 (GRCm39) |
F266I |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,525 (GRCm39) |
M545V |
probably benign |
Het |
| Dnah7c |
C |
G |
1: 46,778,828 (GRCm39) |
D3139E |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,477,178 (GRCm39) |
V57D |
possibly damaging |
Het |
| Epc2 |
A |
G |
2: 49,341,903 (GRCm39) |
N29S |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,398,767 (GRCm39) |
V682A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,844,931 (GRCm39) |
K438E |
unknown |
Het |
| Farp1 |
T |
A |
14: 121,512,794 (GRCm39) |
I764N |
probably damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,794,250 (GRCm39) |
I209F |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,480,302 (GRCm39) |
V1065M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gp6 |
C |
A |
7: 4,397,130 (GRCm39) |
D102Y |
probably damaging |
Het |
| Gpc5 |
T |
C |
14: 115,330,179 (GRCm39) |
L114P |
probably benign |
Het |
| Kcnq3 |
T |
A |
15: 65,869,599 (GRCm39) |
E613V |
probably damaging |
Het |
| Krt74 |
T |
G |
15: 101,665,195 (GRCm39) |
|
noncoding transcript |
Het |
| Lipe |
T |
C |
7: 25,082,750 (GRCm39) |
T801A |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,429,708 (GRCm39) |
V454A |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,052,935 (GRCm39) |
D338G |
probably damaging |
Het |
| Mctp1 |
T |
C |
13: 77,172,902 (GRCm39) |
|
silent |
Het |
| Nlrp4a |
G |
A |
7: 26,156,455 (GRCm39) |
A727T |
probably benign |
Het |
| Nrgn |
T |
C |
9: 37,457,344 (GRCm39) |
S48G |
probably benign |
Het |
| Oga |
A |
G |
19: 45,765,438 (GRCm39) |
I123T |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,267,973 (GRCm39) |
S67P |
probably damaging |
Het |
| Or4a73 |
T |
C |
2: 89,421,069 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or51f23 |
A |
G |
7: 102,453,200 (GRCm39) |
S172G |
probably benign |
Het |
| Pdia6 |
A |
G |
12: 17,328,594 (GRCm39) |
E183G |
probably benign |
Het |
| Pign |
T |
A |
1: 105,517,040 (GRCm39) |
I529F |
probably benign |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Samm50 |
T |
G |
15: 84,098,329 (GRCm39) |
I456S |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,687,267 (GRCm39) |
R84G |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Spag17 |
G |
T |
3: 99,963,482 (GRCm39) |
D1067Y |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,881,005 (GRCm39) |
Q425* |
probably null |
Het |
| Srrm4 |
T |
A |
5: 116,729,418 (GRCm39) |
I36F |
unknown |
Het |
| Tas1r2 |
A |
T |
4: 139,387,107 (GRCm39) |
S189C |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,091,062 (GRCm39) |
V690A |
possibly damaging |
Het |
| Trmo |
T |
C |
4: 46,382,073 (GRCm39) |
K348R |
probably benign |
Het |
| Trmu |
T |
A |
15: 85,766,899 (GRCm39) |
M36K |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,179,959 (GRCm39) |
T3380A |
possibly damaging |
Het |
| Unc79 |
A |
C |
12: 103,137,831 (GRCm39) |
T2425P |
probably damaging |
Het |
| Vmn2r12 |
G |
A |
5: 109,240,666 (GRCm39) |
T149I |
probably benign |
Het |
| Vwa3a |
A |
C |
7: 120,389,366 (GRCm39) |
K68T |
probably damaging |
Het |
| Yif1a |
T |
C |
19: 5,138,778 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
A |
T |
9: 30,965,348 (GRCm39) |
T253S |
probably damaging |
Het |
| Zdhhc3 |
T |
C |
9: 122,929,410 (GRCm39) |
Y75C |
probably damaging |
Het |
| Zfp189 |
T |
A |
4: 49,530,153 (GRCm39) |
F419I |
probably benign |
Het |
| Zfp663 |
T |
C |
2: 165,194,929 (GRCm39) |
D430G |
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 |
|
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'- GTGTGGGAAAGCTTTCACTTAC -3'
(R):5'- CATTGCTTACATACATAGGGCTTCTC -3'
Sequencing Primer
(F):5'- CATAAACGATGTCACACTGGTG -3'
(R):5'- CCCCACTGTGAATCCTTTCATGG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation