Incidental Mutation 'R2304:Zfp786'
| ID |
244523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp786
|
| Ensembl Gene |
ENSMUSG00000051499 |
| Gene Name |
zinc finger protein 786 |
| Synonyms |
A730012O14Rik |
| MMRRC Submission |
040303-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47796200-47807801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47797633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 435
(L435P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058844]
|
| AlphaFold |
Q8BV42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058844
AA Change: L435P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057495
Gene: ENSMUSG00000051499
AA Change: L435P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
9 |
69 |
2.6e-22 |
SMART |
|
low complexity region
|
156 |
164 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
240 |
262 |
5.34e-1 |
SMART |
|
ZnF_C2H2
|
268 |
295 |
1.41e2 |
SMART |
|
ZnF_C2H2
|
420 |
440 |
1.21e2 |
SMART |
|
ZnF_C2H2
|
448 |
470 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
476 |
498 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
504 |
526 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
532 |
554 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
560 |
582 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
588 |
610 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
616 |
638 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
644 |
665 |
5.92e0 |
SMART |
|
ZnF_C2H2
|
671 |
693 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
699 |
721 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
727 |
749 |
1.45e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143979
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,142,366 (GRCm39) |
R806S |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,029 (GRCm39) |
K483R |
possibly damaging |
Het |
| Dcdc5 |
T |
A |
2: 106,166,488 (GRCm39) |
|
noncoding transcript |
Het |
| Dvl1 |
C |
T |
4: 155,940,041 (GRCm39) |
S391F |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,937 (GRCm39) |
L125P |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5449 |
G |
T |
13: 53,679,899 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
T |
C |
5: 143,373,595 (GRCm39) |
Y796H |
probably damaging |
Het |
| Mcrip1 |
A |
T |
11: 120,435,519 (GRCm39) |
F39I |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,502,238 (GRCm39) |
I158L |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,487,479 (GRCm39) |
N291D |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,499,879 (GRCm39) |
V1255D |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,989,551 (GRCm39) |
T1023A |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,838 (GRCm39) |
S188P |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,497,542 (GRCm39) |
E20G |
probably damaging |
Het |
| Slc13a5 |
A |
G |
11: 72,149,865 (GRCm39) |
V172A |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sp8 |
G |
T |
12: 118,812,304 (GRCm39) |
S53I |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,023,630 (GRCm39) |
|
probably null |
Het |
| Trip11 |
A |
T |
12: 101,865,236 (GRCm39) |
F146I |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,550 (GRCm39) |
S99P |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,447,488 (GRCm39) |
I325V |
probably benign |
Het |
|
| Other mutations in Zfp786 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:Zfp786
|
APN |
6 |
47,796,605 (GRCm39) |
makesense |
probably null |
|
|
IGL02442:Zfp786
|
APN |
6 |
47,798,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02674:Zfp786
|
APN |
6 |
47,797,427 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02814:Zfp786
|
APN |
6 |
47,796,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03072:Zfp786
|
APN |
6 |
47,798,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03294:Zfp786
|
APN |
6 |
47,798,258 (GRCm39) |
nonsense |
probably null |
|
|
IGL03393:Zfp786
|
APN |
6 |
47,798,458 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
3-1:Zfp786
|
UTSW |
6 |
47,797,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Zfp786
|
UTSW |
6 |
47,796,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1071:Zfp786
|
UTSW |
6 |
47,798,239 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1426:Zfp786
|
UTSW |
6 |
47,802,013 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1976:Zfp786
|
UTSW |
6 |
47,796,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Zfp786
|
UTSW |
6 |
47,803,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Zfp786
|
UTSW |
6 |
47,803,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Zfp786
|
UTSW |
6 |
47,803,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2176:Zfp786
|
UTSW |
6 |
47,797,905 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3110:Zfp786
|
UTSW |
6 |
47,797,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Zfp786
|
UTSW |
6 |
47,797,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Zfp786
|
UTSW |
6 |
47,798,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4654:Zfp786
|
UTSW |
6 |
47,797,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4741:Zfp786
|
UTSW |
6 |
47,797,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Zfp786
|
UTSW |
6 |
47,797,087 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4936:Zfp786
|
UTSW |
6 |
47,798,202 (GRCm39) |
nonsense |
probably null |
|
|
R5084:Zfp786
|
UTSW |
6 |
47,796,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Zfp786
|
UTSW |
6 |
47,796,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Zfp786
|
UTSW |
6 |
47,803,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Zfp786
|
UTSW |
6 |
47,796,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Zfp786
|
UTSW |
6 |
47,796,667 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8038:Zfp786
|
UTSW |
6 |
47,798,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8090:Zfp786
|
UTSW |
6 |
47,796,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8250:Zfp786
|
UTSW |
6 |
47,797,729 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8438:Zfp786
|
UTSW |
6 |
47,796,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Zfp786
|
UTSW |
6 |
47,797,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Zfp786
|
UTSW |
6 |
47,802,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9596:Zfp786
|
UTSW |
6 |
47,797,406 (GRCm39) |
nonsense |
probably null |
|
|
R9788:Zfp786
|
UTSW |
6 |
47,797,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAATGGCCTTTCTCCACCATG -3'
(R):5'- TGCTTCCTCTCACAGTCGAAG -3'
Sequencing Primer
(F):5'- TAGTTGGTGGGCCCTCAAC -3'
(R):5'- TCTCACAGTCGAAGCAGGCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation