Incidental Mutation 'R1426:Zfp786'
| ID |
162245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp786
|
| Ensembl Gene |
ENSMUSG00000051499 |
| Gene Name |
zinc finger protein 786 |
| Synonyms |
A730012O14Rik |
| MMRRC Submission |
039482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1426 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
47796200-47807801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47802013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058844]
|
| AlphaFold |
Q8BV42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058844
AA Change: V88A
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000057495
Gene: ENSMUSG00000051499
AA Change: V88A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204984
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,361 (GRCm39) |
V214E |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
| Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
| Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,927,942 (GRCm39) |
D206G |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
| Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,509,858 (GRCm39) |
W12R |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,697,728 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
| Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
| Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pnma8a |
C |
T |
7: 16,694,909 (GRCm39) |
P255S |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,391,808 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,968 (GRCm39) |
H472R |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,108,009 (GRCm39) |
R466C |
probably damaging |
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 |
|
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 |
|
R2304:Zfp786
|
UTSW |
6 |
47,797,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCAGCATCAAGCCTTGGTTCA -3'
(R):5'- CAAGCCAAATTACCCTGTCTGACTCTTC -3'
Sequencing Primer
(F):5'- ggtggaggaagaagaaaagtgg -3'
(R):5'- TGAACTTGGGAGAGAGCTCT -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation