Incidental Mutation 'IGL01789:Gzf1'
| ID |
278920 |
| 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 non essential
(E-score: 0.447)
|
| Stock # |
IGL01789
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
148522943-148534869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 148525981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 151
(A151T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028928]
[ENSMUST00000131292]
|
| AlphaFold |
Q4VBD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028928
AA Change: A151T
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: A151T
| 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: ENSMUST00000131292
|
| SMART Domains |
Protein: ENSMUSP00000121799
Gene: ENSMUSG00000027439
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
133 |
2.01e-20 |
SMART |
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
C |
T |
5: 90,673,443 (GRCm39) |
P232S |
probably benign |
Het |
| Atp11b |
A |
T |
3: 35,843,741 (GRCm39) |
Q81L |
possibly damaging |
Het |
| Cgn |
G |
A |
3: 94,683,528 (GRCm39) |
P413S |
possibly damaging |
Het |
| Eps8 |
C |
T |
6: 137,516,364 (GRCm39) |
M5I |
probably benign |
Het |
| Fam83h |
A |
T |
15: 75,877,969 (GRCm39) |
M143K |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,566,352 (GRCm39) |
C2217Y |
probably damaging |
Het |
| Leo1 |
T |
C |
9: 75,361,896 (GRCm39) |
|
probably benign |
Het |
| Lipm |
A |
G |
19: 34,096,147 (GRCm39) |
D321G |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,835,483 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,999,372 (GRCm39) |
Y257C |
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,195,833 (GRCm39) |
K359E |
possibly damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tas2r130 |
T |
A |
6: 131,607,118 (GRCm39) |
S226C |
probably damaging |
Het |
| Tpbg |
A |
T |
9: 85,726,954 (GRCm39) |
M308L |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,838,090 (GRCm39) |
S1715L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,239,462 (GRCm39) |
N3508K |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,634,141 (GRCm39) |
|
probably null |
Het |
| Wdhd1 |
A |
T |
14: 47,512,274 (GRCm39) |
M39K |
probably benign |
Het |
|
| Other mutations in Gzf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01129:Gzf1
|
APN |
2 |
148,532,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01647:Gzf1
|
APN |
2 |
148,525,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation