Incidental Mutation 'R6411:Zfp758'
| ID |
514610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp758
|
| Ensembl Gene |
ENSMUSG00000044501 |
| Gene Name |
zinc finger protein 758 |
| Synonyms |
|
| MMRRC Submission |
044384-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R6411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22580434-22596262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22594075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 155
(D155V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072477]
[ENSMUST00000088765]
[ENSMUST00000121315]
[ENSMUST00000149699]
|
| AlphaFold |
E9QAA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072477
AA Change: D155V
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000072298
Gene: ENSMUSG00000044501
AA Change: D155V
| 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 |
possibly damaging
Transcript: ENSMUST00000088765
AA Change: D155V
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086143
Gene: ENSMUSG00000044501
AA Change: D155V
| 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 |
possibly damaging
Transcript: ENSMUST00000121315
AA Change: D155V
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113532
Gene: ENSMUSG00000044501
AA Change: D155V
| 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 |
possibly damaging
Transcript: ENSMUST00000149699
AA Change: D187V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121288
Gene: ENSMUSG00000044501
AA Change: D187V
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn7 |
A |
G |
14: 31,062,053 (GRCm39) |
E55G |
probably benign |
Het |
| Carmil2 |
G |
T |
8: 106,423,658 (GRCm39) |
D1211Y |
probably damaging |
Het |
| Carns1 |
G |
T |
19: 4,216,463 (GRCm39) |
A573E |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,181 (GRCm39) |
R555G |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,717,854 (GRCm39) |
I204T |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,436,303 (GRCm39) |
V584M |
possibly damaging |
Het |
| Izumo2 |
A |
T |
7: 44,369,184 (GRCm39) |
Q186L |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,111,404 (GRCm39) |
Q708L |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,987,433 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
A |
8: 71,775,599 (GRCm39) |
Y340* |
probably null |
Het |
| Naip5 |
A |
G |
13: 100,359,913 (GRCm39) |
I441T |
probably benign |
Het |
| Nbea |
A |
C |
3: 55,712,778 (GRCm39) |
S2100A |
probably benign |
Het |
| Or10ag60 |
G |
T |
2: 87,438,317 (GRCm39) |
C195F |
probably damaging |
Het |
| Or2t47 |
T |
A |
11: 58,442,483 (GRCm39) |
Y194F |
probably damaging |
Het |
| Or5a3 |
G |
A |
19: 12,400,350 (GRCm39) |
V226I |
probably benign |
Het |
| Or6b1 |
A |
G |
6: 42,815,654 (GRCm39) |
T280A |
possibly damaging |
Het |
| Oxnad1 |
C |
G |
14: 31,813,609 (GRCm39) |
H3Q |
possibly damaging |
Het |
| Rab8b |
A |
T |
9: 66,761,948 (GRCm39) |
|
probably null |
Het |
| Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
| Sele |
G |
A |
1: 163,876,984 (GRCm39) |
V87I |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,659,191 (GRCm39) |
W212R |
probably damaging |
Het |
| Vmn1r88 |
A |
T |
7: 12,911,970 (GRCm39) |
I109F |
probably damaging |
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 |
|
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 |
|
|
R7858:Zfp758
|
UTSW |
17 |
22,594,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- ACACACAGCATATTGTCCATGAG -3'
(R):5'- CTCCTGAATGTATTCTTTGATGCG -3'
Sequencing Primer
(F):5'- AGTCTTATAAATGTCATGAACTTGCC -3'
(R):5'- GTTGGTAAAGCATTTGTCACAATC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation