Incidental Mutation 'IGL00089:Zfp639'
ID1797
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 #IGL00089
Quality Score
Status
Chromosome3
Chromosomal Location32510259-32520833 bp(+) (GRCm38)
Type of Mutationintron (173 bp from exon)
DNA Base Change (assembly) T to G at 32519753 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029203] [ENSMUST00000191783] [ENSMUST00000192985] [ENSMUST00000193119] [ENSMUST00000193287]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029203
AA Change: C176G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: C176G

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 possibly damaging
Transcript: ENSMUST00000191783
AA Change: C176G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: C176G

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 null
Transcript: ENSMUST00000192985
Predicted Effect probably null
Transcript: ENSMUST00000193119
Predicted Effect possibly damaging
Transcript: ENSMUST00000193287
AA Change: C176G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: C176G

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 null
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,987 probably benign Het
A430033K04Rik T C 5: 138,647,592 S580P probably damaging Het
Abca12 T A 1: 71,303,541 I927F possibly damaging Het
Abca8a A G 11: 110,050,939 V1168A possibly damaging Het
Abcc1 T A 16: 14,460,983 N1052K probably benign Het
Adamts13 C A 2: 27,005,361 Q1155K probably benign Het
Adgre4 A T 17: 55,791,915 probably benign Het
AF529169 C T 9: 89,601,800 V515I probably benign Het
Ahsa2 T C 11: 23,496,837 E42G probably damaging Het
Ankk1 T G 9: 49,421,900 I95L probably benign Het
Anpep A T 7: 79,841,986 L89Q probably damaging Het
Arl5a T C 2: 52,416,071 N83S probably benign Het
Atp11b A G 3: 35,809,376 probably null Het
Atp6v0a2 T C 5: 124,721,777 F849L probably benign Het
BC106179 A G 16: 23,224,272 probably benign Het
Bcl2a1c T C 9: 114,330,540 *129Q probably null Het
C2cd5 T C 6: 143,017,945 I888V probably null Het
Calb2 A T 8: 110,145,671 L227Q probably damaging Het
Casc4 T C 2: 121,910,793 probably benign Het
Ccp110 G T 7: 118,722,424 C434F possibly damaging Het
Cd209c A T 8: 3,940,339 C160S probably damaging Het
Chmp1a A G 8: 123,209,019 probably null Het
Col6a6 T A 9: 105,758,191 probably null Het
Cyld T A 8: 88,705,457 C28S probably benign Het
Dapk1 A T 13: 60,761,040 I1156F probably benign Het
Dennd1a A T 2: 38,243,442 Y16* probably null Het
Dennd3 T G 15: 73,567,133 S1117A probably benign Het
Dgka A T 10: 128,733,086 D203E probably damaging Het
Dhx15 G T 5: 52,166,775 L392I probably damaging Het
Dnah10 A G 5: 124,746,616 D567G probably benign Het
Eaf1 T A 14: 31,504,526 probably null Het
Efnb2 T C 8: 8,660,589 D9G probably benign Het
Fcrla A T 1: 170,927,498 C15S probably benign Het
Flt3 T C 5: 147,354,876 N588S probably damaging Het
Gm10146 A T 10: 78,393,473 noncoding transcript Het
Gnpat T C 8: 124,876,914 probably benign Het
Gpr39 A C 1: 125,872,731 R406S probably benign Het
H2-Aa T C 17: 34,284,530 H31R probably damaging Het
Helz2 G T 2: 181,229,702 R2706S probably damaging Het
Hip1r T A 5: 123,989,735 probably null Het
Hnf4g A G 3: 3,648,082 T239A probably benign Het
Hps5 A T 7: 46,775,938 I413N probably damaging Het
Hspg2 G A 4: 137,528,820 G1413R probably damaging Het
Itgax T G 7: 128,135,326 M352R probably damaging Het
Katna1 T A 10: 7,762,804 M433K probably damaging Het
Kcna4 T G 2: 107,295,862 S314A probably damaging Het
Kif13b C T 14: 64,669,693 T42I possibly damaging Het
Krt78 G A 15: 101,947,510 T622I probably benign Het
Krt86 T A 15: 101,476,515 M263K possibly damaging Het
Lap3 A G 5: 45,506,169 probably benign Het
Lepr A T 4: 101,815,035 R1085S probably benign Het
Lmcd1 A G 6: 112,329,808 I314V probably benign Het
Luc7l2 T C 6: 38,608,170 probably benign Het
Mcm2 T A 6: 88,893,401 M117L probably benign Het
Mdh2 T C 5: 135,786,284 Y133H probably damaging Het
Mlkl T A 8: 111,319,428 R317* probably null Het
Mrps34 T C 17: 24,895,370 L68P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo18a A G 11: 77,847,938 E1299G probably damaging Het
Nlrp14 T C 7: 107,192,502 L139P possibly damaging Het
Nudcd2 A G 11: 40,736,586 D86G probably damaging Het
Olfr1212 T A 2: 88,958,766 I100N probably damaging Het
Olfr1318 A T 2: 112,156,067 M39L probably benign Het
Olfr819 T A 10: 129,965,804 R293W probably damaging Het
Patj T C 4: 98,465,106 F629L probably damaging Het
Rad23a A G 8: 84,835,895 F280L probably damaging Het
Ralgapa1 C A 12: 55,722,773 G811V probably damaging Het
St18 A G 1: 6,802,572 D177G probably benign Het
Sult1c2 A C 17: 53,833,119 Y159* probably null Het
Surf6 T A 2: 26,893,069 probably null Het
Susd6 T G 12: 80,870,067 probably benign Het
Sypl2 G A 3: 108,226,426 probably benign Het
Ubr5 A T 15: 37,984,036 F2289Y probably damaging Het
Vcl T C 14: 20,987,003 I223T probably benign Het
Vmn1r234 C T 17: 21,229,598 T258I possibly damaging Het
Vmn2r58 T A 7: 41,864,430 K263M possibly damaging Het
Vmo1 A T 11: 70,513,598 N192K probably damaging Het
Wrnip1 A G 13: 32,816,329 N440D probably damaging Het
Zc3h4 T C 7: 16,422,234 Y264H unknown Het
Zfp831 T C 2: 174,646,285 Y918H possibly damaging Het
Other mutations in Zfp639
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Zfp639 APN 3 32519919 missense probably damaging 0.99
IGL00579:Zfp639 APN 3 32520477 missense probably damaging 0.98
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 On2011-07-12