Incidental Mutation 'R6593:Zfp799'
| ID |
523487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp799
|
| Ensembl Gene |
ENSMUSG00000095253 |
| Gene Name |
zinc finger protein 799 |
| Synonyms |
6030490I01Rik |
| MMRRC Submission |
044717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R6593 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33034423-33049235 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33038764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 501
(Y501H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179695]
[ENSMUST00000201499]
[ENSMUST00000201876]
[ENSMUST00000202759]
[ENSMUST00000202988]
|
| AlphaFold |
Q8BHK4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179695
AA Change: Y500H
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136298
Gene: ENSMUSG00000095253
AA Change: Y500H
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
60 |
1.22e-9 |
SMART |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
194 |
216 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
222 |
244 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
250 |
272 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
278 |
300 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
306 |
328 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
334 |
356 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
4.34e-1 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
584 |
606 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
612 |
634 |
4.47e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201499
|
| SMART Domains |
Protein: ENSMUSP00000143907
Gene: ENSMUSG00000095253
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
61 |
1.22e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201876
|
| SMART Domains |
Protein: ENSMUSP00000144187
Gene: ENSMUSG00000095253
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
61 |
5.3e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202759
|
| SMART Domains |
Protein: ENSMUSP00000144087
Gene: ENSMUSG00000095253
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
63 |
5.6e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202988
AA Change: Y501H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144480
Gene: ENSMUSG00000095253
AA Change: Y501H
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
61 |
1.22e-9 |
SMART |
|
low complexity region
|
98 |
111 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
195 |
217 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
4.34e-1 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
557 |
579 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
613 |
635 |
4.47e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.6%
- 20x: 89.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,903,491 (GRCm39) |
N1047K |
probably benign |
Het |
| AI597479 |
C |
A |
1: 43,150,408 (GRCm39) |
Q173K |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,522 (GRCm39) |
L282P |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,564 (GRCm39) |
I296T |
possibly damaging |
Het |
| Atg2b |
A |
G |
12: 105,611,107 (GRCm39) |
S1275P |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,344,638 (GRCm39) |
M485T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,514,338 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,095,226 (GRCm39) |
S731N |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,325,005 (GRCm39) |
I388V |
possibly damaging |
Het |
| Cpsf4l |
G |
T |
11: 113,600,192 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,200,720 (GRCm39) |
H1350Y |
probably benign |
Het |
| Dnase2b |
T |
C |
3: 146,292,666 (GRCm39) |
Y169C |
probably damaging |
Het |
| Elavl3 |
C |
T |
9: 21,929,843 (GRCm39) |
V354M |
possibly damaging |
Het |
| Farp2 |
A |
C |
1: 93,497,662 (GRCm39) |
I231L |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,329 (GRCm39) |
M755K |
probably damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,273 (GRCm39) |
T13A |
unknown |
Het |
| Gstm3 |
T |
A |
3: 107,875,511 (GRCm39) |
N40Y |
probably benign |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,697 (GRCm39) |
C328S |
unknown |
Het |
| Lpar1 |
A |
T |
4: 58,486,605 (GRCm39) |
V222E |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,396,175 (GRCm39) |
S192P |
probably damaging |
Het |
| Odad1 |
T |
A |
7: 45,596,808 (GRCm39) |
D378E |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,640 (GRCm39) |
T242I |
probably damaging |
Het |
| Pcdhgb1 |
G |
T |
18: 37,815,134 (GRCm39) |
D542Y |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,645,790 (GRCm39) |
Q264* |
probably null |
Het |
| Ptgs2 |
G |
A |
1: 149,976,784 (GRCm39) |
D6N |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,663,327 (GRCm39) |
H167N |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,216,168 (GRCm39) |
L193S |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,226,651 (GRCm39) |
I169V |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,061 (GRCm39) |
F673S |
probably damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,063,219 (GRCm39) |
M1T |
probably null |
Het |
| Stra6 |
A |
G |
9: 58,059,262 (GRCm39) |
T542A |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,081,579 (GRCm39) |
Y569C |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,417 (GRCm39) |
K626R |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,210 (GRCm39) |
I1227N |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,919,802 (GRCm39) |
A671V |
probably damaging |
Het |
|
| Other mutations in Zfp799 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01667:Zfp799
|
APN |
17 |
33,040,794 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
P0016:Zfp799
|
UTSW |
17 |
33,038,331 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0116:Zfp799
|
UTSW |
17 |
33,040,009 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0326:Zfp799
|
UTSW |
17 |
33,039,700 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1487:Zfp799
|
UTSW |
17 |
33,039,651 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1863:Zfp799
|
UTSW |
17 |
33,038,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Zfp799
|
UTSW |
17 |
33,040,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Zfp799
|
UTSW |
17 |
33,041,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Zfp799
|
UTSW |
17 |
33,038,472 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2271:Zfp799
|
UTSW |
17 |
33,040,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Zfp799
|
UTSW |
17 |
33,039,214 (GRCm39) |
nonsense |
probably null |
|
|
R5134:Zfp799
|
UTSW |
17 |
33,039,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Zfp799
|
UTSW |
17 |
33,038,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5839:Zfp799
|
UTSW |
17 |
33,041,086 (GRCm39) |
missense |
probably null |
0.99 |
|
R6389:Zfp799
|
UTSW |
17 |
33,039,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Zfp799
|
UTSW |
17 |
33,039,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Zfp799
|
UTSW |
17 |
33,039,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7133:Zfp799
|
UTSW |
17 |
33,039,210 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7543:Zfp799
|
UTSW |
17 |
33,039,534 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7883:Zfp799
|
UTSW |
17 |
33,039,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Zfp799
|
UTSW |
17 |
33,038,473 (GRCm39) |
nonsense |
probably null |
|
|
R8090:Zfp799
|
UTSW |
17 |
33,039,949 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8726:Zfp799
|
UTSW |
17 |
33,039,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Zfp799
|
UTSW |
17 |
33,039,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Zfp799
|
UTSW |
17 |
33,039,565 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9052:Zfp799
|
UTSW |
17 |
33,039,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9310:Zfp799
|
UTSW |
17 |
33,039,733 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9430:Zfp799
|
UTSW |
17 |
33,039,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9643:Zfp799
|
UTSW |
17 |
33,039,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp799
|
UTSW |
17 |
33,039,190 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Zfp799
|
UTSW |
17 |
33,049,195 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Zfp799
|
UTSW |
17 |
33,049,193 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGGGTTTCTCTCCAGTGTGG -3'
(R):5'- AGTCACAGCTCCGTTAAGTAC -3'
Sequencing Primer
(F):5'- GAACGAAAGGCTTTTCCACATTGC -3'
(R):5'- TACCACGAGTTGATTCATACCGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation