Incidental Mutation 'IGL01952:Zfp639'
ID181075
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: 0.304) question?
Stock #IGL01952
Quality Score
Status
Chromosome3
Chromosomal Location32510259-32520833 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32515347 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 18 (Y18C)
Ref Sequence ENSEMBL: ENSMUSP00000142244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029203] [ENSMUST00000191783] [ENSMUST00000192985] [ENSMUST00000193119] [ENSMUST00000193287]
Predicted Effect probably damaging
Transcript: ENSMUST00000029203
AA Change: Y18C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: Y18C

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: Y18C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: Y18C

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: ENSMUST00000192741
Predicted Effect probably benign
Transcript: ENSMUST00000192985
Predicted Effect probably damaging
Transcript: ENSMUST00000193119
AA Change: Y18C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000193287
AA Change: Y18C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: Y18C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194821
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,342,478 probably null Het
Bod1l C T 5: 41,816,954 C2339Y possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Celsr1 T A 15: 85,963,223 I1438F probably benign Het
Dbr1 T A 9: 99,582,412 N297K possibly damaging Het
Dmxl1 A G 18: 49,890,654 H1668R probably benign Het
Dnajb11 A G 16: 22,865,500 E91G probably damaging Het
Elmsan1 G A 12: 84,173,266 P305S probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Grin2d C A 7: 45,862,280 R247L probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hacl1 C T 14: 31,641,122 probably benign Het
Hivep2 C A 10: 14,142,331 T1854K possibly damaging Het
Htr1d T C 4: 136,443,561 V367A probably benign Het
Ifi208 T C 1: 173,679,031 S127P possibly damaging Het
Ifngr2 C T 16: 91,559,988 P137S probably damaging Het
Lcn9 T C 2: 25,824,538 L138P probably damaging Het
Mdn1 T C 4: 32,723,657 V2531A possibly damaging Het
Meioc A T 11: 102,672,185 I70F possibly damaging Het
Mlph A C 1: 90,933,471 D276A probably benign Het
Myh1 T A 11: 67,220,392 probably null Het
Nlrp9a G A 7: 26,558,019 S265N probably benign Het
Ofcc1 G A 13: 40,280,861 A22V probably damaging Het
Olfr736 T A 14: 50,393,403 F216I probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Prlr A G 15: 10,328,342 D301G possibly damaging Het
Ptk2 T C 15: 73,229,931 E810G probably damaging Het
Slco1b2 T G 6: 141,671,230 F430V probably benign Het
Supt6 T C 11: 78,225,760 K646R probably benign Het
Tmem260 C T 14: 48,472,476 A52V probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Vwa5b1 G A 4: 138,581,217 P770S probably benign Het
Wdr63 T C 3: 146,097,163 H91R probably 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
IGL00579:Zfp639 APN 3 32520477 missense probably damaging 0.98
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 On2014-05-07