Incidental Mutation 'IGL01647:Gzf1'
ID102700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzf1
Ensembl Gene ENSMUSG00000027439
Gene NameGDNF-inducible zinc finger protein 1
SynonymsZfp336, 8430437G08Rik
Accession Numbers

Ncbi RefSeq: NM_028986.3; MGI:1921783

Is this an essential gene? Possibly essential (E-score: 0.702) question?
Stock #IGL01647
Quality Score
Status
Chromosome2
Chromosomal Location148681023-148692949 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 148683650 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 14 (P14S)
Ref Sequence ENSEMBL: ENSMUSP00000028928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028928] [ENSMUST00000131292]
Predicted Effect probably damaging
Transcript: ENSMUST00000028928
AA Change: P14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: P14S

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 probably damaging
Transcript: ENSMUST00000131292
AA Change: P14S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121799
Gene: ENSMUSG00000027439
AA Change: P14S

DomainStartEndE-ValueType
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,376,085 D191V probably damaging Het
Adcy6 T C 15: 98,600,275 D382G probably damaging Het
Arhgef33 A T 17: 80,365,266 probably benign Het
Armc10 A G 5: 21,646,093 probably benign Het
Bcas1 T A 2: 170,349,252 Q586L probably damaging Het
Ccdc88a A C 11: 29,504,321 probably benign Het
Cep250 T A 2: 155,983,376 C1057S probably benign Het
Ctsm A T 13: 61,540,273 M14K probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Fam71b G T 11: 46,405,397 E199* probably null Het
Frem1 A G 4: 82,950,356 Y1463H possibly damaging Het
Gck A T 11: 5,904,472 M251K probably damaging Het
Iws1 A T 18: 32,097,222 K748* probably null Het
Kif15 T A 9: 122,963,471 probably benign Het
Ly6g6f A G 17: 35,080,841 probably benign Het
Mrps30 C T 13: 118,380,610 G358R probably damaging Het
Nfrkb T A 9: 31,396,505 probably benign Het
Olfr1033 C T 2: 86,042,097 P261S probably damaging Het
Pakap A T 4: 57,688,477 I107F possibly damaging Het
Pcnt T A 10: 76,370,001 K2506* probably null Het
Pgc G T 17: 47,732,404 G226W probably damaging Het
Pip5k1a C T 3: 95,074,072 V82M probably damaging Het
Plk3 A G 4: 117,130,357 V466A probably damaging Het
Prss44 C A 9: 110,814,677 Q130K probably damaging Het
Rbck1 T C 2: 152,323,232 Y66C probably damaging Het
Rbm6 T C 9: 107,852,882 E189G probably benign Het
Rtn4r G T 16: 18,151,326 R206L probably damaging Het
Ryr2 C T 13: 11,585,480 G4613E probably damaging Het
Sema5a T G 15: 32,417,441 L19R possibly damaging Het
Slc30a5 T C 13: 100,821,145 T139A possibly damaging Het
Slco2a1 T G 9: 103,070,296 S265A possibly damaging Het
Smad4 A G 18: 73,640,473 probably benign Het
St13 C T 15: 81,371,507 R240Q probably damaging Het
Tcea3 A C 4: 136,274,776 probably benign Het
Uhrf1bp1l T C 10: 89,774,120 probably null Het
Vmn1r177 T C 7: 23,866,175 Y92C probably damaging Het
Wnt8b A T 19: 44,511,265 D151V probably damaging Het
Zfp426 T A 9: 20,478,157 M1L possibly damaging Het
Other mutations in Gzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Gzf1 APN 2 148690996 missense probably damaging 0.99
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
P0019:Gzf1 UTSW 2 148683980 missense probably damaging 1.00
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
Posted On2014-01-21