Incidental Mutation 'IGL01129:Gzf1'
ID |
50586 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gzf1
|
Ensembl Gene |
ENSMUSG00000027439 |
Gene Name |
GDNF-inducible zinc finger protein 1 |
Synonyms |
Zfp336, 8430437G08Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.500)
|
Stock # |
IGL01129
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
148522943-148534869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 148532916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 690
(P690Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028926]
[ENSMUST00000028928]
[ENSMUST00000136513]
|
AlphaFold |
Q4VBD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028926
|
SMART Domains |
Protein: ENSMUSP00000028926 Gene: ENSMUSG00000027438
Domain | Start | End | E-Value | Type |
Pfam:SNAP
|
8 |
288 |
7.3e-113 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028928
AA Change: P690Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028928 Gene: ENSMUSG00000027439 AA Change: P690Q
Domain | Start | End | E-Value | Type |
BTB
|
31 |
133 |
2.01e-20 |
SMART |
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
coiled coil region
|
287 |
308 |
N/A |
INTRINSIC |
ZnF_C2H2
|
315 |
337 |
6.32e-3 |
SMART |
ZnF_C2H2
|
346 |
369 |
1.2e-3 |
SMART |
ZnF_C2H2
|
375 |
398 |
8.34e-3 |
SMART |
ZnF_C2H2
|
405 |
427 |
7.78e-3 |
SMART |
ZnF_C2H2
|
433 |
455 |
1.69e-3 |
SMART |
ZnF_C2H2
|
461 |
483 |
1.43e-1 |
SMART |
ZnF_C2H2
|
489 |
511 |
2.4e-3 |
SMART |
ZnF_C2H2
|
517 |
539 |
1.47e-3 |
SMART |
ZnF_C2H2
|
545 |
567 |
1.38e-3 |
SMART |
ZnF_C2H2
|
573 |
595 |
1.04e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136513
|
SMART Domains |
Protein: ENSMUSP00000120979 Gene: ENSMUSG00000027438
Domain | Start | End | E-Value | Type |
Pfam:SNAP
|
8 |
114 |
3.5e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151362
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
Other mutations in Gzf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01647:Gzf1
|
APN |
2 |
148,525,570 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01789:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01791:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01952:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01954:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01956:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03391:Gzf1
|
APN |
2 |
148,525,603 (GRCm39) |
missense |
probably damaging |
1.00 |
I0000:Gzf1
|
UTSW |
2 |
148,528,540 (GRCm39) |
unclassified |
probably benign |
|
P0019:Gzf1
|
UTSW |
2 |
148,525,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Gzf1
|
UTSW |
2 |
148,525,753 (GRCm39) |
missense |
probably benign |
0.30 |
R0725:Gzf1
|
UTSW |
2 |
148,526,569 (GRCm39) |
nonsense |
probably null |
|
R1131:Gzf1
|
UTSW |
2 |
148,532,787 (GRCm39) |
missense |
probably benign |
0.02 |
R2000:Gzf1
|
UTSW |
2 |
148,526,531 (GRCm39) |
missense |
probably benign |
0.16 |
R2211:Gzf1
|
UTSW |
2 |
148,526,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R2251:Gzf1
|
UTSW |
2 |
148,525,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R2252:Gzf1
|
UTSW |
2 |
148,525,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R2253:Gzf1
|
UTSW |
2 |
148,525,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R4233:Gzf1
|
UTSW |
2 |
148,528,453 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5551:Gzf1
|
UTSW |
2 |
148,526,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R6050:Gzf1
|
UTSW |
2 |
148,526,158 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6891:Gzf1
|
UTSW |
2 |
148,526,689 (GRCm39) |
nonsense |
probably null |
|
R7457:Gzf1
|
UTSW |
2 |
148,532,002 (GRCm39) |
missense |
probably damaging |
0.99 |
R7735:Gzf1
|
UTSW |
2 |
148,530,083 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7839:Gzf1
|
UTSW |
2 |
148,525,815 (GRCm39) |
nonsense |
probably null |
|
R8168:Gzf1
|
UTSW |
2 |
148,526,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R8225:Gzf1
|
UTSW |
2 |
148,532,764 (GRCm39) |
missense |
probably benign |
0.02 |
R8432:Gzf1
|
UTSW |
2 |
148,532,115 (GRCm39) |
missense |
probably benign |
0.22 |
R9081:Gzf1
|
UTSW |
2 |
148,525,317 (GRCm39) |
intron |
probably benign |
|
R9761:Gzf1
|
UTSW |
2 |
148,530,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-06-21 |