Incidental Mutation 'R6567:Zfp759'
| ID |
522778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp759
|
| Ensembl Gene |
ENSMUSG00000057396 |
| Gene Name |
zinc finger protein 759 |
| Synonyms |
Rslcan-8 |
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67273040-67290468 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67287150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 234
(S234T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052716]
[ENSMUST00000224346]
|
| AlphaFold |
Q7M6X3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052716
AA Change: S234T
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049650
Gene: ENSMUSG00000057396
AA Change: S234T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.6e-22 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
5.54e1 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
610 |
632 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
638 |
660 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
666 |
688 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
694 |
716 |
4.17e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224426
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
|
| Other mutations in Zfp759 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01509:Zfp759
|
APN |
13 |
67,287,658 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03131:Zfp759
|
APN |
13 |
67,286,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03218:Zfp759
|
APN |
13 |
67,287,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0243:Zfp759
|
UTSW |
13 |
67,286,877 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0319:Zfp759
|
UTSW |
13 |
67,288,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0520:Zfp759
|
UTSW |
13 |
67,285,419 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0961:Zfp759
|
UTSW |
13 |
67,287,927 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1435:Zfp759
|
UTSW |
13 |
67,286,830 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1649:Zfp759
|
UTSW |
13 |
67,287,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1880:Zfp759
|
UTSW |
13 |
67,287,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Zfp759
|
UTSW |
13 |
67,287,578 (GRCm39) |
unclassified |
probably benign |
|
|
R2170:Zfp759
|
UTSW |
13 |
67,284,812 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3154:Zfp759
|
UTSW |
13 |
67,286,719 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3551:Zfp759
|
UTSW |
13 |
67,287,031 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4392:Zfp759
|
UTSW |
13 |
67,287,707 (GRCm39) |
nonsense |
probably null |
|
|
R4495:Zfp759
|
UTSW |
13 |
67,286,989 (GRCm39) |
splice site |
probably null |
|
|
R4736:Zfp759
|
UTSW |
13 |
67,287,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4882:Zfp759
|
UTSW |
13 |
67,287,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5717:Zfp759
|
UTSW |
13 |
67,286,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Zfp759
|
UTSW |
13 |
67,288,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Zfp759
|
UTSW |
13 |
67,288,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6381:Zfp759
|
UTSW |
13 |
67,286,969 (GRCm39) |
nonsense |
probably null |
|
|
R6427:Zfp759
|
UTSW |
13 |
67,287,162 (GRCm39) |
splice site |
probably null |
|
|
R7140:Zfp759
|
UTSW |
13 |
67,288,177 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7731:Zfp759
|
UTSW |
13 |
67,287,690 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8504:Zfp759
|
UTSW |
13 |
67,286,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8770:Zfp759
|
UTSW |
13 |
67,288,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Zfp759
|
UTSW |
13 |
67,288,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Zfp759
|
UTSW |
13 |
67,287,198 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Zfp759
|
UTSW |
13 |
67,284,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Zfp759
|
UTSW |
13 |
67,288,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGTTGGCAAGTCCTTTTG -3'
(R):5'- GATGGAGAGTGGAAGGCCTTT -3'
Sequencing Primer
(F):5'- AAGTATGTGCCAAGGCCTTC -3'
(R):5'- AGTTCCCTTGTGTACACGAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation