Incidental Mutation 'IGL00579:Zfp639'
ID6917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp639
Ensembl Gene ENSMUSG00000027667
Gene Namezinc finger protein 639
Synonyms6230400O18Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.358) question?
Stock #IGL00579
Quality Score
Status
Chromosome3
Chromosomal Location32510259-32520833 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32520477 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 417 (E417V)
Ref Sequence ENSEMBL: ENSMUSP00000141341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029203] [ENSMUST00000191783] [ENSMUST00000192985] [ENSMUST00000193119] [ENSMUST00000193287]
Predicted Effect probably damaging
Transcript: ENSMUST00000029203
AA Change: E417V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: E417V

DomainStartEndE-ValueType
ZnF_C2H2 204 227 2.49e-1 SMART
ZnF_C2H2 233 255 8.09e-1 SMART
ZnF_C2H2 260 283 1.16e-1 SMART
ZnF_C2H2 289 311 2.14e0 SMART
ZnF_C2H2 317 340 3.47e0 SMART
ZnF_C2H2 374 397 3.29e-1 SMART
ZnF_C2H2 403 425 2.71e-2 SMART
ZnF_C2H2 431 454 2.86e-1 SMART
ZnF_C2H2 460 482 1.67e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191783
AA Change: E417V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: E417V

DomainStartEndE-ValueType
ZnF_C2H2 204 227 2.49e-1 SMART
ZnF_C2H2 233 255 8.09e-1 SMART
ZnF_C2H2 260 283 1.16e-1 SMART
ZnF_C2H2 289 311 2.14e0 SMART
ZnF_C2H2 317 340 3.47e0 SMART
ZnF_C2H2 374 397 3.29e-1 SMART
ZnF_C2H2 403 425 2.71e-2 SMART
ZnF_C2H2 431 454 2.86e-1 SMART
ZnF_C2H2 460 482 1.67e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192985
Predicted Effect probably benign
Transcript: ENSMUST00000193119
Predicted Effect probably damaging
Transcript: ENSMUST00000193287
AA Change: E417V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: E417V

DomainStartEndE-ValueType
ZnF_C2H2 204 227 2.49e-1 SMART
ZnF_C2H2 233 255 8.09e-1 SMART
ZnF_C2H2 260 283 1.16e-1 SMART
ZnF_C2H2 289 311 2.14e0 SMART
ZnF_C2H2 317 340 3.47e0 SMART
ZnF_C2H2 374 397 3.29e-1 SMART
ZnF_C2H2 403 425 2.71e-2 SMART
ZnF_C2H2 431 454 2.86e-1 SMART
ZnF_C2H2 460 482 1.67e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193290
Predicted Effect probably benign
Transcript: ENSMUST00000193789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194126
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,568,796 E365G possibly damaging Het
Adamts12 T C 15: 11,152,014 Y197H probably benign Het
Cept1 A T 3: 106,505,803 V202E possibly damaging Het
Cfap53 A T 18: 74,305,540 K263* probably null Het
Dennd3 T C 15: 73,540,842 I451T possibly damaging Het
Dync2h1 A C 9: 7,035,728 probably benign Het
Egf T A 3: 129,697,798 H850L probably benign Het
Gm11595 T C 11: 99,772,042 T271A unknown Het
Gorab T C 1: 163,394,687 E142G probably damaging Het
Gpat4 A G 8: 23,182,775 S20P probably damaging Het
Gpr83 T C 9: 14,860,601 V23A probably benign Het
Il13ra2 A G X: 147,394,390 Y146H probably damaging Het
Kcnj16 C T 11: 111,025,208 T232M probably benign Het
Mdfic A T 6: 15,741,074 I61F possibly damaging Het
Mmp3 G T 9: 7,445,894 probably benign Het
Olr1 C T 6: 129,493,523 R227K probably benign Het
Otof T A 5: 30,399,322 I257F possibly damaging Het
Oxsr1 T A 9: 119,259,211 R43S probably damaging Het
Prkdc A G 16: 15,664,239 D382G probably damaging Het
Slc35b2 G T 17: 45,564,960 V81L probably damaging Het
Thumpd3 G A 6: 113,047,661 R72H possibly damaging Het
Tmem206 T C 1: 191,328,208 V21A unknown Het
Tsga10 G A 1: 37,835,453 T117I probably damaging Het
Vps13a T A 19: 16,707,362 T953S probably benign Het
Wdr62 A C 7: 30,267,895 C311W probably damaging Het
Wdr74 A G 19: 8,739,466 T247A possibly damaging Het
Zbtb26 A T 2: 37,436,442 V194D possibly damaging Het
Other mutations in Zfp639
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Zfp639 APN 3 32519753 intron probably null
IGL00571:Zfp639 APN 3 32519919 missense probably damaging 0.99
IGL01952:Zfp639 APN 3 32515347 missense probably damaging 1.00
PIT4514001:Zfp639 UTSW 3 32520260 missense possibly damaging 0.46
R0412:Zfp639 UTSW 3 32517110 missense possibly damaging 0.92
R1195:Zfp639 UTSW 3 32519196 missense possibly damaging 0.92
R1195:Zfp639 UTSW 3 32519196 missense possibly damaging 0.92
R1195:Zfp639 UTSW 3 32519196 missense possibly damaging 0.92
R2906:Zfp639 UTSW 3 32519751 missense probably damaging 0.99
R4660:Zfp639 UTSW 3 32520530 missense probably damaging 0.99
R5109:Zfp639 UTSW 3 32520436 utr 3 prime probably null
R6012:Zfp639 UTSW 3 32519122 missense probably damaging 1.00
R6321:Zfp639 UTSW 3 32517088 missense probably damaging 1.00
R6449:Zfp639 UTSW 3 32519661 missense possibly damaging 0.92
R7020:Zfp639 UTSW 3 32520112 missense probably damaging 0.98
R8034:Zfp639 UTSW 3 32520066 missense probably damaging 0.99
Posted On2012-04-20