Incidental Mutation 'R2170:Zfp759'
| ID |
237443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp759
|
| Ensembl Gene |
ENSMUSG00000057396 |
| Gene Name |
zinc finger protein 759 |
| Synonyms |
Rslcan-8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R2170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67273040-67290468 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67284812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 19
(Y19N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052716]
[ENSMUST00000224346]
|
| AlphaFold |
Q7M6X3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052716
AA Change: Y13N
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000049650
Gene: ENSMUSG00000057396
AA Change: Y13N
| 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 |
possibly damaging
Transcript: ENSMUST00000224346
AA Change: Y19N
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224426
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,896 (GRCm39) |
S404P |
probably damaging |
Het |
| 4933434E20Rik |
T |
A |
3: 89,963,611 (GRCm39) |
L89Q |
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,102,411 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,793,680 (GRCm39) |
F89S |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,095,168 (GRCm39) |
S1977T |
probably benign |
Het |
| Ccr1l1 |
C |
A |
9: 123,778,172 (GRCm39) |
V92F |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,509,323 (GRCm39) |
N86S |
probably damaging |
Het |
| Copg2 |
CCTCATC |
CC |
6: 30,789,757 (GRCm39) |
|
probably null |
Het |
| Elapor2 |
A |
G |
5: 9,529,206 (GRCm39) |
D221G |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,921,984 (GRCm39) |
S21P |
probably benign |
Het |
| Glb1 |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
9: 114,302,873 (GRCm39) |
|
probably benign |
Het |
| Gngt2 |
A |
G |
11: 95,728,071 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,956 (GRCm39) |
E135V |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,270,293 (GRCm39) |
A1177T |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,557,773 (GRCm39) |
V272A |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,015,682 (GRCm39) |
I418M |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,918,075 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
T |
1: 153,124,888 (GRCm39) |
A628T |
probably benign |
Het |
| Mag |
A |
T |
7: 30,608,412 (GRCm39) |
L234* |
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,366,084 (GRCm39) |
V2080E |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,871,724 (GRCm39) |
D2119G |
probably benign |
Het |
| Ncam1 |
C |
T |
9: 49,709,981 (GRCm39) |
A17T |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,322,702 (GRCm39) |
Y2570H |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,044,861 (GRCm39) |
V129A |
probably damaging |
Het |
| Or14a257 |
T |
A |
7: 86,137,778 (GRCm39) |
H327L |
probably benign |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Podn |
A |
T |
4: 107,879,730 (GRCm39) |
L85Q |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,485,805 (GRCm39) |
D680E |
possibly damaging |
Het |
| Prdm14 |
G |
A |
1: 13,192,684 (GRCm39) |
L352F |
probably damaging |
Het |
| Prob1 |
G |
T |
18: 35,787,790 (GRCm39) |
Q155K |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,069,215 (GRCm39) |
L737S |
possibly damaging |
Het |
| Stard5 |
A |
G |
7: 83,282,366 (GRCm39) |
T60A |
probably benign |
Het |
| Syt7 |
A |
G |
19: 10,416,744 (GRCm39) |
K402E |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,171,714 (GRCm39) |
D69V |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,957 (GRCm39) |
F258S |
probably benign |
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 |
|
|
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 |
|
|
R6567:Zfp759
|
UTSW |
13 |
67,287,150 (GRCm39) |
missense |
probably benign |
0.34 |
|
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'- AGTAGCATAATGTGTAAGTTAATTGGG -3'
(R):5'- CCCATGAGATACTGTACAAAGGGA -3'
Sequencing Primer
(F):5'- GTGGACATTACTTGCAATCCCCAG -3'
(R):5'- CAAAGGGAACAAGTTTCATACTGAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation