Incidental Mutation 'P0016:Zfp799'
ID |
7573 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp799
|
Ensembl Gene |
ENSMUSG00000095253 |
Gene Name |
zinc finger protein 799 |
Synonyms |
6030490I01Rik |
MMRRC Submission |
038269-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
P0016 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
33034423-33049235 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33038331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 645
(E645G)
|
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: E644G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136298 Gene: ENSMUSG00000095253 AA Change: E644G
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 |
possibly damaging
Transcript: ENSMUST00000202988
AA Change: E645G
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144480 Gene: ENSMUSG00000095253 AA Change: E645G
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 85.6%
- 3x: 81.0%
- 10x: 66.8%
- 20x: 50.1%
|
Validation Efficiency |
96% (97/101) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
A |
T |
5: 138,561,200 (GRCm39) |
L154* |
probably null |
Het |
4930432E11Rik |
T |
C |
7: 29,262,537 (GRCm39) |
|
noncoding transcript |
Het |
Arap3 |
T |
A |
18: 38,117,401 (GRCm39) |
T892S |
probably benign |
Het |
Ctnnd2 |
G |
A |
15: 30,967,084 (GRCm39) |
V987I |
probably benign |
Het |
Dennd6b |
T |
C |
15: 89,071,180 (GRCm39) |
I351V |
probably benign |
Het |
Kif27 |
G |
A |
13: 58,451,266 (GRCm39) |
Q1021* |
probably null |
Het |
Klb |
G |
A |
5: 65,537,266 (GRCm39) |
W865* |
probably null |
Het |
Mbd1 |
C |
T |
18: 74,407,609 (GRCm39) |
R130* |
probably null |
Het |
Mroh7 |
T |
A |
4: 106,565,054 (GRCm39) |
|
probably null |
Het |
Myo16 |
C |
T |
8: 10,450,596 (GRCm39) |
|
probably benign |
Het |
Rbm22 |
T |
A |
18: 60,703,842 (GRCm39) |
|
probably benign |
Het |
Rnaseh2a |
C |
G |
8: 85,686,429 (GRCm39) |
D206H |
probably damaging |
Het |
Slain1 |
A |
G |
14: 103,923,110 (GRCm39) |
T187A |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,764,068 (GRCm39) |
T154A |
probably damaging |
Het |
Traip |
A |
G |
9: 107,845,855 (GRCm39) |
D316G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,641,527 (GRCm39) |
D5196G |
probably damaging |
Het |
Ubr5 |
C |
T |
15: 38,000,822 (GRCm39) |
V1569M |
probably damaging |
Het |
Zfp750 |
T |
A |
11: 121,404,804 (GRCm39) |
K24* |
probably null |
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 |
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 |
R6593:Zfp799
|
UTSW |
17 |
33,038,764 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2012-10-05 |