Incidental Mutation 'R6427:Zfp759'
| ID |
518372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp759
|
| Ensembl Gene |
ENSMUSG00000057396 |
| Gene Name |
zinc finger protein 759 |
| Synonyms |
Rslcan-8 |
| MMRRC Submission |
044566-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6427 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67273040-67290468 bp(+) (GRCm39) |
| Type of Mutation |
splice site (356 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 67287162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052716]
[ENSMUST00000224346]
|
| AlphaFold |
Q7M6X3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052716
AA Change: I238V
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049650
Gene: ENSMUSG00000057396
AA Change: I238V
| 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 null
Transcript: ENSMUST00000224346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224426
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Ankmy2 |
A |
G |
12: 36,237,710 (GRCm39) |
S270G |
possibly damaging |
Het |
| Anxa2 |
T |
A |
9: 69,383,431 (GRCm39) |
|
probably null |
Het |
| Arid1a |
G |
T |
4: 133,408,835 (GRCm39) |
P1891T |
unknown |
Het |
| Atn1 |
G |
T |
6: 124,723,139 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,356,157 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
C |
14: 59,743,719 (GRCm39) |
K94N |
possibly damaging |
Het |
| Cacna2d2 |
G |
T |
9: 107,392,641 (GRCm39) |
M528I |
possibly damaging |
Het |
| Ccnc |
T |
A |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,464,596 (GRCm39) |
L1268P |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,721,512 (GRCm39) |
T774I |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 96,024,387 (GRCm39) |
|
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,412,156 (GRCm39) |
F209L |
probably damaging |
Het |
| Cyp2j7 |
C |
A |
4: 96,115,904 (GRCm39) |
D181Y |
probably damaging |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Ddr1 |
C |
A |
17: 35,998,114 (GRCm39) |
R477L |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,310 (GRCm39) |
T22A |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,728,081 (GRCm39) |
D294G |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,241,439 (GRCm39) |
I569V |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,573,227 (GRCm39) |
R2141S |
possibly damaging |
Het |
| Kat6b |
T |
C |
14: 21,567,480 (GRCm39) |
S180P |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,631,454 (GRCm39) |
E655K |
possibly damaging |
Het |
| Mro |
T |
A |
18: 74,005,104 (GRCm39) |
L69Q |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,381,049 (GRCm39) |
L581H |
probably benign |
Het |
| Nkiras2 |
C |
T |
11: 100,515,861 (GRCm39) |
R63W |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,058 (GRCm39) |
S182T |
possibly damaging |
Het |
| Obi1 |
T |
C |
14: 104,717,662 (GRCm39) |
K237R |
possibly damaging |
Het |
| Or52b4i |
A |
T |
7: 102,191,895 (GRCm39) |
I251F |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,395,126 (GRCm39) |
S553P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,086,786 (GRCm39) |
I323T |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,965,181 (GRCm39) |
A756S |
probably damaging |
Het |
| Prex2 |
A |
T |
1: 11,252,255 (GRCm39) |
Y1100F |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,242 (GRCm39) |
S328T |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,774,998 (GRCm39) |
T52A |
probably damaging |
Het |
| Taf3 |
A |
T |
2: 9,956,164 (GRCm39) |
F515I |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,176,966 (GRCm39) |
|
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,120,947 (GRCm39) |
Y322C |
possibly damaging |
Het |
| Zfp735 |
G |
A |
11: 73,581,140 (GRCm39) |
C59Y |
possibly 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 |
|
|
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'- GAGGTTGGCAAGTCCTTTTG -3'
(R):5'- GATGGAGAGTGGAAGGCCTTTC -3'
Sequencing Primer
(F):5'- AAGTATGTGCCAAGGCCTTC -3'
(R):5'- AGTTCCCTTGTGTACACGAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation