Incidental Mutation 'IGL00545:Zfp119b'
| ID |
3832 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp119b
|
| Ensembl Gene |
ENSMUSG00000062101 |
| Gene Name |
zinc finger protein 119b |
| Synonyms |
BC031441 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL00545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56245381-56256500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 56246270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 305
(H305Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056147]
[ENSMUST00000189452]
|
| AlphaFold |
Q8K0G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056147
AA Change: H305Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058300
Gene: ENSMUSG00000062101
AA Change: H305Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
56 |
2e-14 |
SMART |
|
ZnF_C2H2
|
155 |
175 |
2.82e1 |
SMART |
|
ZnF_C2H2
|
287 |
309 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
315 |
337 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
1.25e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189452
AA Change: H273Q
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139791
Gene: ENSMUSG00000062101
AA Change: H273Q
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
34 |
8e-11 |
BLAST |
|
ZnF_C2H2
|
123 |
143 |
1.2e-1 |
SMART |
|
ZnF_C2H2
|
255 |
277 |
4.7e-5 |
SMART |
|
ZnF_C2H2
|
283 |
305 |
9.1e-6 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
2.2e-5 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
2e-5 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
4.7e-6 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
2.1e-5 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
3.2e-6 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
2e-6 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
5.2e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,105,227 (GRCm39) |
N139K |
possibly damaging |
Het |
| Ano10 |
A |
G |
9: 122,090,422 (GRCm39) |
V105A |
possibly damaging |
Het |
| Cep44 |
A |
T |
8: 57,000,435 (GRCm39) |
V26E |
probably damaging |
Het |
| Cpne8 |
A |
G |
15: 90,424,462 (GRCm39) |
V309A |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,496,905 (GRCm39) |
I3117T |
possibly damaging |
Het |
| Efna1 |
T |
A |
3: 89,180,123 (GRCm39) |
N91I |
probably benign |
Het |
| Golph3 |
G |
A |
15: 12,339,757 (GRCm39) |
R90H |
probably damaging |
Het |
| Hps3 |
G |
T |
3: 20,073,971 (GRCm39) |
L332I |
possibly damaging |
Het |
| Marchf5 |
C |
T |
19: 37,194,624 (GRCm39) |
S94L |
probably benign |
Het |
| Mrpl46 |
T |
A |
7: 78,432,724 (GRCm39) |
Q18L |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,708,542 (GRCm39) |
V741A |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,251 (GRCm39) |
A382T |
possibly damaging |
Het |
| Pdgfd |
C |
T |
9: 6,288,621 (GRCm39) |
Q92* |
probably null |
Het |
| Ubxn4 |
A |
G |
1: 128,187,202 (GRCm39) |
D65G |
possibly damaging |
Het |
|
| Other mutations in Zfp119b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Zfp119b
|
APN |
17 |
56,246,866 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02623:Zfp119b
|
APN |
17 |
56,246,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0377:Zfp119b
|
UTSW |
17 |
56,245,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Zfp119b
|
UTSW |
17 |
56,246,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2177:Zfp119b
|
UTSW |
17 |
56,245,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Zfp119b
|
UTSW |
17 |
56,246,355 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4273:Zfp119b
|
UTSW |
17 |
56,245,926 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4801:Zfp119b
|
UTSW |
17 |
56,246,642 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4802:Zfp119b
|
UTSW |
17 |
56,246,642 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6525:Zfp119b
|
UTSW |
17 |
56,246,992 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6644:Zfp119b
|
UTSW |
17 |
56,246,148 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6950:Zfp119b
|
UTSW |
17 |
56,246,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Zfp119b
|
UTSW |
17 |
56,245,564 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7750:Zfp119b
|
UTSW |
17 |
56,245,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8882:Zfp119b
|
UTSW |
17 |
56,246,923 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9383:Zfp119b
|
UTSW |
17 |
56,246,355 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9431:Zfp119b
|
UTSW |
17 |
56,246,536 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
RF020:Zfp119b
|
UTSW |
17 |
56,246,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation