Incidental Mutation 'R8250:Zfp786'
| ID |
640279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp786
|
| Ensembl Gene |
ENSMUSG00000051499 |
| Gene Name |
zinc finger protein 786 |
| Synonyms |
A730012O14Rik |
| MMRRC Submission |
067676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47796200-47807801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47797729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 403
(L403Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058844]
|
| AlphaFold |
Q8BV42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058844
AA Change: L403Q
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057495
Gene: ENSMUSG00000051499
AA Change: L403Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,260,846 (GRCm39) |
E1027V |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,971,811 (GRCm39) |
S515P |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,126,245 (GRCm39) |
D81E |
unknown |
Het |
| Csrnp3 |
A |
G |
2: 65,852,562 (GRCm39) |
E330G |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Ftcd |
T |
G |
10: 76,417,461 (GRCm39) |
I300R |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,101,178 (GRCm39) |
Y161* |
probably null |
Het |
| Gabrg2 |
C |
T |
11: 41,858,379 (GRCm39) |
V250I |
probably benign |
Het |
| Gmcl1 |
T |
C |
6: 86,698,384 (GRCm39) |
D171G |
possibly damaging |
Het |
| Grk2 |
A |
G |
19: 4,339,962 (GRCm39) |
F375S |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,970,564 (GRCm39) |
I650N |
probably damaging |
Het |
| Lhfpl6 |
T |
C |
3: 52,950,759 (GRCm39) |
I11T |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,801,176 (GRCm39) |
Y141C |
probably damaging |
Het |
| Mon1b |
A |
T |
8: 114,366,351 (GRCm39) |
E449V |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,785,382 (GRCm39) |
N112S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,351,310 (GRCm39) |
N1895S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,879,318 (GRCm39) |
I693V |
probably benign |
Het |
| Oip5 |
A |
G |
2: 119,446,110 (GRCm39) |
S133P |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,566 (GRCm39) |
I95V |
probably damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,741 (GRCm39) |
M119L |
probably damaging |
Het |
| Or52l1 |
T |
C |
7: 104,830,518 (GRCm39) |
M16V |
|
Het |
| Or8k20 |
T |
C |
2: 86,106,498 (GRCm39) |
E111G |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,852,735 (GRCm39) |
V221G |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,556 (GRCm39) |
N56S |
possibly damaging |
Het |
| Psmd11 |
T |
C |
11: 80,336,752 (GRCm39) |
S135P |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,743 (GRCm39) |
D395G |
probably benign |
Het |
| Scube2 |
T |
C |
7: 109,463,377 (GRCm39) |
N62S |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,423,182 (GRCm39) |
S275T |
probably damaging |
Het |
| Sirpb1a |
A |
T |
3: 15,444,104 (GRCm39) |
L382Q |
possibly damaging |
Het |
| Snrpn |
T |
A |
7: 59,636,633 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
T |
6: 144,100,777 (GRCm39) |
S71T |
possibly damaging |
Het |
| Synpo2l |
G |
T |
14: 20,712,344 (GRCm39) |
T321K |
probably benign |
Het |
| Tex15 |
G |
A |
8: 34,055,233 (GRCm39) |
E285K |
probably null |
Het |
| Tmem126b |
G |
A |
7: 90,118,317 (GRCm39) |
L188F |
probably damaging |
Het |
| Ttll2 |
T |
C |
17: 7,618,767 (GRCm39) |
T387A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,667,155 (GRCm39) |
Y11484H |
unknown |
Het |
| Vmn2r76 |
T |
A |
7: 85,875,231 (GRCm39) |
Y582F |
possibly 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 |
|
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 |
|
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 |
|
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'- TCCTCTAAGTGAAGCCGCTG -3'
(R):5'- AGTCTGGACTGTGAGGACTG -3'
Sequencing Primer
(F):5'- CAGCTGTCCCTTTTGGCTGAAG -3'
(R):5'- TGTGAGGACTGCTGCCACATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation