Incidental Mutation 'R2697:Zfp799'
ID |
251244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp799
|
Ensembl Gene |
ENSMUSG00000095253 |
Gene Name |
zinc finger protein 799 |
Synonyms |
6030490I01Rik |
MMRRC Submission |
040435-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R2697 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
33034423-33049235 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 33039214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 351
(R351*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179695]
[ENSMUST00000201499]
[ENSMUST00000201876]
[ENSMUST00000202759]
[ENSMUST00000202988]
|
AlphaFold |
Q8BHK4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000179695
AA Change: R350*
|
SMART Domains |
Protein: ENSMUSP00000136298 Gene: ENSMUSG00000095253 AA Change: R350*
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 null
Transcript: ENSMUST00000202988
AA Change: R351*
|
SMART Domains |
Protein: ENSMUSP00000144480 Gene: ENSMUSG00000095253 AA Change: R351*
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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
T |
C |
6: 132,603,619 (GRCm39) |
S46G |
unknown |
Het |
Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
Adam7 |
A |
T |
14: 68,752,232 (GRCm39) |
C417* |
probably null |
Het |
Adgrl4 |
A |
C |
3: 151,216,260 (GRCm39) |
Q481P |
probably damaging |
Het |
Adra2c |
C |
A |
5: 35,438,042 (GRCm39) |
N271K |
probably benign |
Het |
Ahctf1 |
T |
C |
1: 179,580,097 (GRCm39) |
K2035R |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,625,305 (GRCm39) |
T182A |
possibly damaging |
Het |
Armc3 |
T |
C |
2: 19,308,746 (GRCm39) |
Y805H |
probably damaging |
Het |
BC024139 |
TCCACCACCACCACCACCAC |
TCCACCACCACCACCAC |
15: 76,004,393 (GRCm39) |
|
probably benign |
Het |
Cabp7 |
C |
T |
11: 4,688,837 (GRCm39) |
R211H |
probably damaging |
Het |
Ccdc117 |
T |
C |
11: 5,484,888 (GRCm39) |
N112S |
possibly damaging |
Het |
Cep120 |
C |
T |
18: 53,873,197 (GRCm39) |
D45N |
probably benign |
Het |
Cpsf1 |
T |
C |
15: 76,483,529 (GRCm39) |
Y872C |
probably damaging |
Het |
Cradd |
A |
G |
10: 95,011,807 (GRCm39) |
L111P |
probably damaging |
Het |
Crhr2 |
A |
G |
6: 55,079,815 (GRCm39) |
L155P |
probably damaging |
Het |
Fgd2 |
A |
T |
17: 29,595,895 (GRCm39) |
T518S |
probably damaging |
Het |
Gpam |
C |
T |
19: 55,071,641 (GRCm39) |
E367K |
probably damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,243,126 (GRCm39) |
N1826I |
probably damaging |
Het |
Kcnq5 |
T |
C |
1: 21,549,656 (GRCm39) |
E357G |
probably damaging |
Het |
Krt1 |
T |
A |
15: 101,755,364 (GRCm39) |
D465V |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,572,466 (GRCm39) |
V407E |
probably benign |
Het |
Macrod1 |
T |
C |
19: 7,174,157 (GRCm39) |
V221A |
probably damaging |
Het |
Mbd1 |
T |
C |
18: 74,406,688 (GRCm39) |
S144P |
possibly damaging |
Het |
Mtfmt |
T |
C |
9: 65,359,303 (GRCm39) |
V326A |
probably benign |
Het |
Myo1b |
T |
C |
1: 51,902,517 (GRCm39) |
D71G |
probably benign |
Het |
Myo1h |
A |
G |
5: 114,493,274 (GRCm39) |
Y705C |
probably damaging |
Het |
Nudt9 |
T |
C |
5: 104,212,859 (GRCm39) |
W311R |
probably damaging |
Het |
Or11g27 |
C |
T |
14: 50,771,238 (GRCm39) |
A123V |
probably damaging |
Het |
Or2a57 |
A |
T |
6: 43,213,060 (GRCm39) |
I173F |
probably damaging |
Het |
Or2h15 |
A |
G |
17: 38,441,900 (GRCm39) |
F61S |
probably damaging |
Het |
Or6c65 |
G |
A |
10: 129,603,793 (GRCm39) |
V143I |
probably benign |
Het |
Osbp2 |
A |
T |
11: 3,813,407 (GRCm39) |
L154Q |
probably benign |
Het |
P3h1 |
A |
G |
4: 119,104,377 (GRCm39) |
T633A |
probably damaging |
Het |
Polq |
T |
G |
16: 36,862,515 (GRCm39) |
L616R |
probably damaging |
Het |
Pon3 |
A |
G |
6: 5,232,429 (GRCm39) |
L197S |
possibly damaging |
Het |
Rap1gds1 |
C |
T |
3: 138,689,482 (GRCm39) |
|
probably null |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rfng |
C |
A |
11: 120,674,865 (GRCm39) |
|
probably benign |
Het |
Rps6ka2 |
T |
G |
17: 7,567,721 (GRCm39) |
L728R |
probably benign |
Het |
Slc41a3 |
C |
A |
6: 90,619,302 (GRCm39) |
N360K |
possibly damaging |
Het |
Sult1e1 |
T |
C |
5: 87,726,397 (GRCm39) |
N239S |
probably damaging |
Het |
Tacr1 |
T |
A |
6: 82,469,578 (GRCm39) |
I154N |
probably damaging |
Het |
Tacstd2 |
T |
A |
6: 67,512,203 (GRCm39) |
H163L |
probably benign |
Het |
Tent5a |
T |
C |
9: 85,206,793 (GRCm39) |
D335G |
possibly damaging |
Het |
Tiam1 |
T |
C |
16: 89,590,052 (GRCm39) |
S1382G |
probably benign |
Het |
Tmem43 |
A |
G |
6: 91,456,911 (GRCm39) |
E164G |
possibly damaging |
Het |
U2af2 |
G |
A |
7: 5,070,545 (GRCm39) |
R78H |
probably benign |
Het |
Yipf7 |
T |
A |
5: 69,698,483 (GRCm39) |
D8V |
possibly damaging |
Het |
Zfp58 |
G |
A |
13: 67,639,124 (GRCm39) |
H456Y |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,553,016 (GRCm39) |
D715G |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCGTGTATCTGAACTTGACGAGA -3'
(R):5'- CTCCCTGCTGACGCATGAG -3'
Sequencing Primer
(F):5'- CCGGTATGAATCAACTCGTGG -3'
(R):5'- AAGCCCTACGTGTGTAAGC -3'
|
Posted On |
2014-12-04 |