Incidental Mutation 'R7858:Zfp758'
| ID |
607347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp758
|
| Ensembl Gene |
ENSMUSG00000044501 |
| Gene Name |
zinc finger protein 758 |
| Synonyms |
|
| MMRRC Submission |
045911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R7858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22580434-22596262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22594359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 282
(T282A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072477]
[ENSMUST00000088765]
[ENSMUST00000121315]
[ENSMUST00000149699]
|
| AlphaFold |
E9QAA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072477
AA Change: T250A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000072298
Gene: ENSMUSG00000044501
AA Change: T250A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
1.55e-20 |
SMART |
|
ZnF_C2H2
|
177 |
199 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
205 |
227 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
261 |
283 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
401 |
423 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
429 |
451 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
485 |
507 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
513 |
535 |
4.4e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088765
AA Change: T250A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000086143
Gene: ENSMUSG00000044501
AA Change: T250A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
1.55e-20 |
SMART |
|
ZnF_C2H2
|
177 |
199 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
205 |
227 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
261 |
283 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
401 |
423 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
429 |
451 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
485 |
507 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
513 |
535 |
4.4e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121315
AA Change: T250A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113532
Gene: ENSMUSG00000044501
AA Change: T250A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
1.55e-20 |
SMART |
|
ZnF_C2H2
|
177 |
199 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
205 |
227 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
261 |
283 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
401 |
423 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
429 |
451 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
485 |
507 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
513 |
535 |
4.4e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149699
AA Change: T282A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000121288
Gene: ENSMUSG00000044501
AA Change: T282A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
45 |
105 |
1.55e-20 |
SMART |
|
ZnF_C2H2
|
209 |
231 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
237 |
259 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
265 |
287 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
293 |
315 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
321 |
343 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
349 |
371 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
377 |
399 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
517 |
539 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
4.4e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
T |
C |
1: 66,877,483 (GRCm39) |
E356G |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,099,371 (GRCm39) |
L175P |
probably damaging |
Het |
| Apon |
T |
C |
10: 128,090,328 (GRCm39) |
I2T |
probably benign |
Het |
| Ccny |
T |
A |
18: 9,386,782 (GRCm39) |
D61V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,025,219 (GRCm39) |
T393A |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,134 (GRCm39) |
L434P |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,436,616 (GRCm39) |
I302N |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,943,169 (GRCm39) |
S283P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,350 (GRCm39) |
Y214* |
probably null |
Het |
| Gm1123 |
T |
C |
9: 98,896,107 (GRCm39) |
N258D |
possibly damaging |
Het |
| Gm9821 |
A |
T |
2: 91,776,351 (GRCm39) |
H101L |
unknown |
Het |
| Il36b |
T |
A |
2: 24,044,626 (GRCm39) |
C9S |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mansc1 |
T |
C |
6: 134,587,377 (GRCm39) |
T267A |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,539,103 (GRCm39) |
D200G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,357,166 (GRCm39) |
V1148L |
possibly damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,393,741 (GRCm39) |
R2940L |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,500 (GRCm39) |
F312L |
probably benign |
Het |
| Or4c31 |
G |
A |
2: 88,292,056 (GRCm39) |
C143Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,507,141 (GRCm39) |
S874T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,971,320 (GRCm39) |
I452S |
possibly damaging |
Het |
| Setx |
A |
C |
2: 29,051,562 (GRCm39) |
D2038A |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,215,442 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,806,273 (GRCm39) |
K473E |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,195,339 (GRCm39) |
F1290S |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,176,285 (GRCm39) |
V2371G |
unknown |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,226 (GRCm39) |
V171I |
probably benign |
Het |
| Zfp35 |
T |
C |
18: 24,136,897 (GRCm39) |
C414R |
probably damaging |
Het |
| Zfp704 |
A |
G |
3: 9,509,217 (GRCm39) |
|
probably null |
Het |
| Zfp961 |
T |
C |
8: 72,704,949 (GRCm39) |
V4A |
unknown |
Het |
|
| Other mutations in Zfp758 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01550:Zfp758
|
APN |
17 |
22,594,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:Zfp758
|
UTSW |
17 |
22,594,740 (GRCm39) |
nonsense |
probably null |
|
|
R1187:Zfp758
|
UTSW |
17 |
22,594,171 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1733:Zfp758
|
UTSW |
17 |
22,594,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Zfp758
|
UTSW |
17 |
22,594,204 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1927:Zfp758
|
UTSW |
17 |
22,594,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1934:Zfp758
|
UTSW |
17 |
22,592,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2113:Zfp758
|
UTSW |
17 |
22,580,626 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2132:Zfp758
|
UTSW |
17 |
22,594,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Zfp758
|
UTSW |
17 |
22,594,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5274:Zfp758
|
UTSW |
17 |
22,594,836 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5303:Zfp758
|
UTSW |
17 |
22,593,842 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5394:Zfp758
|
UTSW |
17 |
22,591,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5813:Zfp758
|
UTSW |
17 |
22,594,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Zfp758
|
UTSW |
17 |
22,592,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6411:Zfp758
|
UTSW |
17 |
22,594,075 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6501:Zfp758
|
UTSW |
17 |
22,590,978 (GRCm39) |
intron |
probably benign |
|
|
R6805:Zfp758
|
UTSW |
17 |
22,580,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7076:Zfp758
|
UTSW |
17 |
22,594,137 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7147:Zfp758
|
UTSW |
17 |
22,594,981 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7170:Zfp758
|
UTSW |
17 |
22,594,116 (GRCm39) |
nonsense |
probably null |
|
|
R7572:Zfp758
|
UTSW |
17 |
22,593,872 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7593:Zfp758
|
UTSW |
17 |
22,593,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7699:Zfp758
|
UTSW |
17 |
22,594,646 (GRCm39) |
nonsense |
probably null |
|
|
R9377:Zfp758
|
UTSW |
17 |
22,593,925 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9717:Zfp758
|
UTSW |
17 |
22,593,829 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTCTAACCAAAACCTCATGCTG -3'
(R):5'- CTCTGATGACCTCTAAGATCACTTTTG -3'
Sequencing Primer
(F):5'- TGCTTCATCCAGAAAGGTGATC -3'
(R):5'- GTTGGTAAAGCATTTGTCACACTCAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation