Incidental Mutation 'P0019:Gzf1'
| ID |
7805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gzf1
|
| Ensembl Gene |
ENSMUSG00000027439 |
| Gene Name |
GDNF-inducible zinc finger protein 1 |
| Synonyms |
Zfp336, 8430437G08Rik |
| MMRRC Submission |
038272-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.500)
|
| Stock # |
P0019 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
148522943-148534869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148525900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 124
(T124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028928]
[ENSMUST00000131292]
|
| AlphaFold |
Q4VBD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028928
AA Change: T124A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: T124A
| 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 |
possibly damaging
Transcript: ENSMUST00000131292
AA Change: T124A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121799
Gene: ENSMUSG00000027439
AA Change: T124A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
133 |
2.01e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151362
|
| Meta Mutation Damage Score |
0.1840 |
| Coding Region Coverage |
- 1x: 84.9%
- 3x: 79.8%
- 10x: 64.3%
- 20x: 46.6%
|
| Validation Efficiency |
63% (57/90) |
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
G |
A |
9: 53,376,328 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
C |
17: 46,971,173 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,840,130 (GRCm39) |
S1255G |
probably benign |
Het |
| Mccc1 |
A |
T |
3: 36,018,544 (GRCm39) |
S597T |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,062 (GRCm39) |
E223G |
probably damaging |
Het |
| Ptprs |
C |
A |
17: 56,754,474 (GRCm39) |
|
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,918,026 (GRCm39) |
D550G |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,560,712 (GRCm39) |
S10P |
probably benign |
Het |
| Tmprss7 |
C |
T |
16: 45,501,096 (GRCm39) |
R235Q |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,179,092 (GRCm39) |
P2001S |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Protein Function and Prediction |
GZF1 is a C2H2 zinc finger protein that functions to repress transcriptional activity of target genes via a Gzf1 responsive element (i.e., a 12 bp consensus sequence, TGCGCN(T/G)(C/A)TATA) (1;2). Studies have identified HOXA10 as a gene that is regulated by Gzf1 (2). HOX proteins are involved in the regulation of the morphogenesis of organs by influencing cell behavior (2;3). Knockdown of GZF1 by antisense oligonucleotides resulted in impaired ureteric bud branching and suggests a role in renal branching morphogenesis (1).
|
| Expression/Localization |
GZF1 is expressed in human brain, heart, skeletal muscle, kidney, and liver. In the mouse, Gzf1 is expressed in several mouse tissues including kidney; Gzf1 is highly expressed in the branching ureteric buds and collecting ducts of mouse metanephric kidney (1). Gzf1 is predominantly a nuclear protein, but expression has been noted in the cytosol (1).
|
| References |
1. Fukuda, N., Ichihara, M., Morinaga, T., Kawai, K., Hayashi, H., Murakumo, Y., Matsuo, S., and Takahashi, M. (2003) Identification of a Novel Glial Cell Line-Derived Neurotrophic Factor-Inducible Gene Required for Renal Branching Morphogenesis. J Biol Chem. 278, 50386-50392.
2. Morinaga, T., Enomoto, A., Shimono, Y., Hirose, F., Fukuda, N., Dambara, A., Jijiwa, M., Kawai, K., Hashimoto, K., Ichihara, M., Asai, N., Murakumo, Y., Matsuo, S., and Takahashi, M. (2005) GDNF-Inducible Zinc Finger Protein 1 is a Sequence-Specific Transcriptional Repressor that Binds to the HOXA10 Gene Regulatory Region. Nucleic Acids Res. 33, 4191-4201. |
| Posted On |
2012-10-29 |
| Science Writer |
Anne Murray |
Incidental Mutation