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

Ncbi RefSeq: NM_028986.3; MGI:1921783

Is this an essential gene? Possibly essential (E-score: 0.636) question?
Stock # P0019 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 148681023-148692949 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148683980 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
BTB 31 133 2.01e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151362
Meta Mutation Damage Score 0.1840 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm G A 9: 53,465,028 probably benign Het
Cul7 T C 17: 46,660,247 probably benign Het
Dnah10 A G 5: 124,763,066 S1255G probably benign Het
Mccc1 A T 3: 35,964,395 S597T probably benign Het
Nlrp4a A G 7: 26,449,637 E223G probably damaging Het
Ptprs C A 17: 56,447,474 probably benign Het
Slitrk5 A G 14: 111,680,594 D550G possibly damaging Het
Tg T C 15: 66,688,863 S10P probably benign Het
Tmprss7 C T 16: 45,680,733 R235Q probably benign Het
Ubr4 C T 4: 139,451,781 P2001S probably damaging Het
Other mutations in Gzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Gzf1 APN 2 148690996 missense probably damaging 0.99
IGL01647:Gzf1 APN 2 148683650 missense probably damaging 1.00
IGL01789:Gzf1 APN 2 148684061 missense probably benign 0.41
IGL01791:Gzf1 APN 2 148684061 missense probably benign 0.41
IGL01952:Gzf1 APN 2 148684061 missense probably benign 0.41
IGL01954:Gzf1 APN 2 148684061 missense probably benign 0.41
IGL01956:Gzf1 APN 2 148684061 missense probably benign 0.41
IGL03391:Gzf1 APN 2 148683683 missense probably damaging 1.00
I0000:Gzf1 UTSW 2 148686620 unclassified probably benign
R0420:Gzf1 UTSW 2 148683833 missense probably benign 0.30
R0725:Gzf1 UTSW 2 148684649 nonsense probably null
R1131:Gzf1 UTSW 2 148690867 missense probably benign 0.02
R2000:Gzf1 UTSW 2 148684611 missense probably benign 0.16
R2211:Gzf1 UTSW 2 148684950 missense probably damaging 1.00
R2251:Gzf1 UTSW 2 148683936 missense probably damaging 1.00
R2252:Gzf1 UTSW 2 148683936 missense probably damaging 1.00
R2253:Gzf1 UTSW 2 148683936 missense probably damaging 1.00
R4233:Gzf1 UTSW 2 148686533 missense possibly damaging 0.86
R5551:Gzf1 UTSW 2 148684328 missense probably damaging 1.00
R6050:Gzf1 UTSW 2 148684238 missense possibly damaging 0.89
R6891:Gzf1 UTSW 2 148684769 nonsense probably null
R7457:Gzf1 UTSW 2 148690082 missense probably damaging 0.99
R7735:Gzf1 UTSW 2 148688163 missense possibly damaging 0.91
R7839:Gzf1 UTSW 2 148683895 nonsense probably null
R8168:Gzf1 UTSW 2 148684766 missense probably damaging 1.00
R8225:Gzf1 UTSW 2 148690844 missense probably benign 0.02
R8432:Gzf1 UTSW 2 148690195 missense probably benign 0.22
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
Posted On 2012-10-29
Science Writer Anne Murray