Incidental Mutation 'R6662:Zfp786'
| ID |
528017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp786
|
| Ensembl Gene |
ENSMUSG00000051499 |
| Gene Name |
zinc finger protein 786 |
| Synonyms |
A730012O14Rik |
| MMRRC Submission |
044782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6662 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
47796200-47807801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47803920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 41
(N41D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058844]
|
| AlphaFold |
Q8BV42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058844
AA Change: N41D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057495
Gene: ENSMUSG00000051499
AA Change: N41D
| 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 |
0.7991 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,062,285 (GRCm39) |
|
probably null |
Het |
| Acox1 |
A |
G |
11: 116,066,149 (GRCm39) |
Y418H |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,105,481 (GRCm39) |
V196I |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,157,774 (GRCm39) |
K44E |
probably damaging |
Het |
| Bad |
T |
A |
19: 6,928,438 (GRCm39) |
|
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,102,085 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Casp6 |
A |
G |
3: 129,705,875 (GRCm39) |
T181A |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,418,938 (GRCm39) |
|
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,164 (GRCm39) |
L46P |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,790,697 (GRCm39) |
L364S |
probably benign |
Het |
| Cfap45 |
T |
C |
1: 172,357,417 (GRCm39) |
I15T |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,722,205 (GRCm39) |
E228K |
probably benign |
Het |
| Fat4 |
G |
T |
3: 39,010,970 (GRCm39) |
L2023F |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,304 (GRCm39) |
N351D |
probably benign |
Het |
| Grm2 |
C |
T |
9: 106,525,252 (GRCm39) |
A488T |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,589,337 (GRCm39) |
E171G |
probably damaging |
Het |
| Il1rn |
A |
T |
2: 24,226,887 (GRCm39) |
|
probably null |
Het |
| Itih5 |
A |
T |
2: 10,253,992 (GRCm39) |
I748F |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,054,385 (GRCm39) |
D520Y |
probably damaging |
Het |
| Mgat5 |
C |
A |
1: 127,396,974 (GRCm39) |
H574N |
probably damaging |
Het |
| Moxd1 |
A |
C |
10: 24,160,658 (GRCm39) |
D437A |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,590 (GRCm39) |
F888L |
probably benign |
Het |
| Ncs1 |
T |
A |
2: 31,177,372 (GRCm39) |
L183Q |
probably damaging |
Het |
| Neto2 |
A |
T |
8: 86,389,844 (GRCm39) |
D206E |
probably damaging |
Het |
| Omp |
A |
G |
7: 97,794,546 (GRCm39) |
L27P |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,287 (GRCm38) |
S161P |
probably benign |
Het |
| Pate6 |
C |
A |
9: 35,701,296 (GRCm39) |
R6M |
possibly damaging |
Het |
| Pde4b |
A |
G |
4: 102,459,095 (GRCm39) |
I381M |
possibly damaging |
Het |
| Pramel5 |
A |
T |
4: 143,999,675 (GRCm39) |
N137K |
probably benign |
Het |
| Prss33 |
T |
C |
17: 24,052,934 (GRCm39) |
S247G |
probably damaging |
Het |
| Rassf9 |
T |
A |
10: 102,381,899 (GRCm39) |
L425Q |
possibly damaging |
Het |
| Setx |
A |
T |
2: 29,048,126 (GRCm39) |
D1909V |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,507,345 (GRCm39) |
K402* |
probably null |
Het |
| Slco1a6 |
G |
A |
6: 142,078,941 (GRCm39) |
T118I |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,078,416 (GRCm39) |
L6769P |
probably damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,452 (GRCm39) |
V199D |
possibly damaging |
Het |
| Tchp |
A |
G |
5: 114,858,076 (GRCm39) |
|
probably null |
Het |
| Trdn |
A |
T |
10: 33,350,483 (GRCm39) |
N684I |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,855,082 (GRCm39) |
T700K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,586,242 (GRCm39) |
V20084I |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,446,116 (GRCm39) |
Y62* |
probably null |
Het |
| Uckl1 |
A |
G |
2: 181,215,053 (GRCm39) |
Y267H |
possibly damaging |
Het |
| Zfp1005 |
G |
A |
2: 150,108,172 (GRCm39) |
|
probably null |
Het |
| Zfp983 |
T |
C |
17: 21,881,001 (GRCm39) |
S310P |
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 |
|
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 |
|
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'- AGGACAAACCGGTGATGTATAC -3'
(R):5'- AACAGCTGTCCACTCTGTG -3'
Sequencing Primer
(F):5'- GACAAACCGGTGATGTATACATTAG -3'
(R):5'- GTCCACTCTGTGAGTCTCAAATTAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation