Incidental Mutation 'IGL02286:Zfp790'
| ID |
289984 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp790
|
| Ensembl Gene |
ENSMUSG00000011427 |
| Gene Name |
zinc finger protein 790 |
| Synonyms |
6330581L23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL02286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29515539-29530430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29529160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 615
(K615R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032796]
[ENSMUST00000108223]
[ENSMUST00000178162]
|
| AlphaFold |
Q80ZX2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032796
AA Change: K615R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032796
Gene: ENSMUSG00000011427
AA Change: K615R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
3e-27 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
1.03e-2 |
SMART |
|
Pfam:zf-C2H2_6
|
391 |
403 |
2.4e-1 |
PFAM |
|
ZnF_C2H2
|
448 |
470 |
9.56e1 |
SMART |
|
ZnF_C2H2
|
476 |
498 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
504 |
526 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
532 |
554 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
640 |
662 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
668 |
690 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
696 |
718 |
1.98e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108223
|
| SMART Domains |
Protein: ENSMUSP00000103858
Gene: ENSMUSG00000050855
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
67 |
2.42e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178162
AA Change: K615R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136932
Gene: ENSMUSG00000011427
AA Change: K615R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
3e-27 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
448 |
470 |
9.56e1 |
SMART |
|
ZnF_C2H2
|
476 |
498 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
504 |
526 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
532 |
554 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
640 |
662 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
668 |
690 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
696 |
718 |
1.98e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dab1 |
A |
G |
4: 104,537,267 (GRCm39) |
T187A |
probably damaging |
Het |
| Eno2 |
C |
T |
6: 124,743,543 (GRCm39) |
R132H |
probably damaging |
Het |
| Fgb |
T |
G |
3: 82,950,633 (GRCm39) |
M374L |
probably benign |
Het |
| Fgf21 |
T |
C |
7: 45,264,561 (GRCm39) |
D57G |
possibly damaging |
Het |
| Gcgr |
A |
G |
11: 120,428,757 (GRCm39) |
T354A |
probably damaging |
Het |
| Gm12790 |
T |
C |
4: 101,824,918 (GRCm39) |
T117A |
probably benign |
Het |
| Myo18a |
C |
T |
11: 77,668,811 (GRCm39) |
Q224* |
probably null |
Het |
| N4bp2 |
A |
G |
5: 65,960,895 (GRCm39) |
Y522C |
probably damaging |
Het |
| Nt5dc3 |
G |
A |
10: 86,656,644 (GRCm39) |
|
probably benign |
Het |
| Or12e13 |
G |
A |
2: 87,663,592 (GRCm39) |
A70T |
probably damaging |
Het |
| Ppp1r3b |
C |
T |
8: 35,851,515 (GRCm39) |
A118V |
probably benign |
Het |
| Slc37a2 |
C |
T |
9: 37,146,455 (GRCm39) |
A351T |
probably damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,328 (GRCm39) |
F105L |
possibly damaging |
Het |
| Vwa8 |
G |
A |
14: 79,184,713 (GRCm39) |
|
probably null |
Het |
| Xrra1 |
A |
T |
7: 99,563,434 (GRCm39) |
I474F |
possibly damaging |
Het |
|
| Other mutations in Zfp790 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Zfp790
|
APN |
7 |
29,527,988 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00979:Zfp790
|
APN |
7 |
29,529,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03136:Zfp790
|
APN |
7 |
29,529,320 (GRCm39) |
nonsense |
probably null |
|
|
R0021:Zfp790
|
UTSW |
7 |
29,525,113 (GRCm39) |
unclassified |
probably benign |
|
|
R0077:Zfp790
|
UTSW |
7 |
29,524,300 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1477:Zfp790
|
UTSW |
7 |
29,522,525 (GRCm39) |
start gained |
probably benign |
|
|
R1572:Zfp790
|
UTSW |
7 |
29,527,564 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2015:Zfp790
|
UTSW |
7 |
29,528,286 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4941:Zfp790
|
UTSW |
7 |
29,528,916 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5019:Zfp790
|
UTSW |
7 |
29,529,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5159:Zfp790
|
UTSW |
7 |
29,529,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5160:Zfp790
|
UTSW |
7 |
29,529,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5722:Zfp790
|
UTSW |
7 |
29,529,514 (GRCm39) |
nonsense |
probably null |
|
|
R5954:Zfp790
|
UTSW |
7 |
29,528,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Zfp790
|
UTSW |
7 |
29,528,970 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6312:Zfp790
|
UTSW |
7 |
29,527,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Zfp790
|
UTSW |
7 |
29,528,050 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7623:Zfp790
|
UTSW |
7 |
29,525,130 (GRCm39) |
nonsense |
probably null |
|
|
R8036:Zfp790
|
UTSW |
7 |
29,528,346 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8175:Zfp790
|
UTSW |
7 |
29,529,205 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8898:Zfp790
|
UTSW |
7 |
29,522,525 (GRCm39) |
start gained |
probably benign |
|
|
R8988:Zfp790
|
UTSW |
7 |
29,527,593 (GRCm39) |
missense |
probably benign |
|
|
R9176:Zfp790
|
UTSW |
7 |
29,529,387 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9404:Zfp790
|
UTSW |
7 |
29,525,185 (GRCm39) |
missense |
probably benign |
|
|
R9519:Zfp790
|
UTSW |
7 |
29,522,567 (GRCm39) |
missense |
unknown |
|
|
Z1186:Zfp790
|
UTSW |
7 |
29,529,109 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1186:Zfp790
|
UTSW |
7 |
29,529,258 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1186:Zfp790
|
UTSW |
7 |
29,529,208 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2015-04-16 |
Incidental Mutation