Incidental Mutation 'IGL02592:Zfp947'
| ID |
299758 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp947
|
| Ensembl Gene |
ENSMUSG00000063383 |
| Gene Name |
zinc finger protein 947 |
| Synonyms |
Gm4769 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL02592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
22363336-22385153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22365233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 147
(Q147L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080249]
|
| AlphaFold |
Q8BIQ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080249
AA Change: Q147L
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000079137
Gene: ENSMUSG00000063383
AA Change: Q147L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
9.26e-19 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
8.02e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cadps |
G |
A |
14: 12,473,465 (GRCm38) |
R899C |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,258,248 (GRCm39) |
L82P |
probably benign |
Het |
| Cd53 |
C |
A |
3: 106,670,601 (GRCm39) |
C144F |
probably damaging |
Het |
| Fancc |
G |
A |
13: 63,508,011 (GRCm39) |
R175W |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gpr149 |
T |
C |
3: 62,511,231 (GRCm39) |
D256G |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,552,591 (GRCm39) |
M1189K |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 46,983,658 (GRCm39) |
C134S |
probably damaging |
Het |
| Mroh8 |
A |
T |
2: 157,058,889 (GRCm39) |
Y926N |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,671,572 (GRCm39) |
S896P |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,823,090 (GRCm39) |
|
probably null |
Het |
| Pcsk6 |
T |
A |
7: 65,618,776 (GRCm39) |
H447Q |
probably damaging |
Het |
| Rfx6 |
C |
A |
10: 51,592,119 (GRCm39) |
Q121K |
probably damaging |
Het |
| Rnase6 |
T |
C |
14: 51,367,982 (GRCm39) |
Y125H |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,538,872 (GRCm39) |
Y494N |
probably damaging |
Het |
| Sppl3 |
G |
A |
5: 115,233,970 (GRCm39) |
V347M |
probably damaging |
Het |
| Tlr12 |
G |
A |
4: 128,511,479 (GRCm39) |
T257M |
probably benign |
Het |
| Tmem132e |
A |
T |
11: 82,325,462 (GRCm39) |
D154V |
probably damaging |
Het |
| Zfp345 |
A |
G |
2: 150,315,229 (GRCm39) |
Y103H |
probably benign |
Het |
|
| Other mutations in Zfp947 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02092:Zfp947
|
APN |
17 |
22,366,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
deformity
|
UTSW |
17 |
22,364,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Gnarled
|
UTSW |
17 |
22,365,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0070:Zfp947
|
UTSW |
17 |
22,365,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1519:Zfp947
|
UTSW |
17 |
22,365,273 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1521:Zfp947
|
UTSW |
17 |
22,364,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1639:Zfp947
|
UTSW |
17 |
22,365,074 (GRCm39) |
missense |
probably benign |
|
|
R1721:Zfp947
|
UTSW |
17 |
22,365,184 (GRCm39) |
missense |
probably benign |
|
|
R1801:Zfp947
|
UTSW |
17 |
22,365,443 (GRCm39) |
missense |
probably benign |
|
|
R2264:Zfp947
|
UTSW |
17 |
22,364,919 (GRCm39) |
missense |
probably benign |
|
|
R3943:Zfp947
|
UTSW |
17 |
22,364,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4561:Zfp947
|
UTSW |
17 |
22,365,124 (GRCm39) |
nonsense |
probably null |
|
|
R4562:Zfp947
|
UTSW |
17 |
22,365,124 (GRCm39) |
nonsense |
probably null |
|
|
R4943:Zfp947
|
UTSW |
17 |
22,364,813 (GRCm39) |
missense |
probably benign |
|
|
R5688:Zfp947
|
UTSW |
17 |
22,365,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6037:Zfp947
|
UTSW |
17 |
22,366,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6037:Zfp947
|
UTSW |
17 |
22,366,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6414:Zfp947
|
UTSW |
17 |
22,365,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6786:Zfp947
|
UTSW |
17 |
22,364,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6993:Zfp947
|
UTSW |
17 |
22,364,961 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7556:Zfp947
|
UTSW |
17 |
22,364,597 (GRCm39) |
missense |
probably benign |
|
|
R8224:Zfp947
|
UTSW |
17 |
22,364,363 (GRCm39) |
missense |
probably benign |
|
|
R8398:Zfp947
|
UTSW |
17 |
22,365,102 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8670:Zfp947
|
UTSW |
17 |
22,364,687 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8871:Zfp947
|
UTSW |
17 |
22,364,695 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9000:Zfp947
|
UTSW |
17 |
22,365,161 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9099:Zfp947
|
UTSW |
17 |
22,364,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Zfp947
|
UTSW |
17 |
22,364,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Zfp947
|
UTSW |
17 |
22,364,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Zfp947
|
UTSW |
17 |
22,364,384 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9507:Zfp947
|
UTSW |
17 |
22,364,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9738:Zfp947
|
UTSW |
17 |
22,365,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation