Incidental Mutation 'PIT4514001:Zfp639'
ID 556256
Institutional Source Beutler Lab
Gene Symbol Zfp639
Ensembl Gene ENSMUSG00000027667
Gene Name zinc finger protein 639
Synonyms 6230400O18Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # PIT4514001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 32564408-32574982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32574409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 345 (I345V)
Ref Sequence ENSEMBL: ENSMUSP00000029203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029203] [ENSMUST00000191783] [ENSMUST00000192985] [ENSMUST00000193119] [ENSMUST00000193287]
AlphaFold Q99KZ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000029203
AA Change: I345V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: I345V

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: I345V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: I345V

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 possibly damaging
Transcript: ENSMUST00000193287
AA Change: I345V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: I345V

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: ENSMUST00000193789
AA Change: *152W
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.2%
  • 20x: 70.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,001,328 (GRCm39) probably null Het
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Abcc10 T A 17: 46,616,574 (GRCm39) I1247F probably benign Het
Acap3 G A 4: 155,987,835 (GRCm39) A524T probably benign Het
Adcy10 T A 1: 165,384,360 (GRCm39) N1040K probably benign Het
Adrb2 T C 18: 62,312,798 (GRCm39) D9G probably benign Het
Aldh1a7 T C 19: 20,679,604 (GRCm39) T391A probably benign Het
Bcam A G 7: 19,497,991 (GRCm39) V344A probably benign Het
Birc7 T A 2: 180,573,099 (GRCm39) I172N possibly damaging Het
Cfap126 G A 1: 170,952,881 (GRCm39) D45N probably damaging Het
Cfap299 T A 5: 98,949,730 (GRCm39) H221Q probably benign Het
Cit G A 5: 116,135,913 (GRCm39) probably null Het
Col26a1 A G 5: 136,780,579 (GRCm39) V295A probably benign Het
Efcab15 T C 11: 103,091,960 (GRCm39) D27G probably benign Het
Epha7 C T 4: 28,961,355 (GRCm39) Q867* probably null Het
Fn1 A G 1: 71,667,615 (GRCm39) S793P probably benign Het
Foxb1 T A 9: 69,667,503 (GRCm39) Y9F probably damaging Het
Gpc1 T A 1: 92,785,279 (GRCm39) M406K probably benign Het
Gsg1 T C 6: 135,214,574 (GRCm39) T312A probably benign Het
Hmcn1 T A 1: 150,545,238 (GRCm39) I2790F possibly damaging Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Lmntd1 AGACTGTAAGTTTCTCAAATGTGTACCTGGA AGA 6: 145,372,979 (GRCm39) probably null Het
Mcph1 A G 8: 18,681,906 (GRCm39) K348E probably damaging Het
Or10al6 T A 17: 38,082,758 (GRCm39) N71K probably damaging Het
Or8d4 T C 9: 40,038,595 (GRCm39) I221V probably damaging Het
Pik3cg T A 12: 32,254,902 (GRCm39) R362W probably damaging Het
Pkp3 T C 7: 140,669,623 (GRCm39) L765P probably damaging Het
Plxna2 A T 1: 194,477,245 (GRCm39) I1252F probably benign Het
Prpf8 T C 11: 75,387,181 (GRCm39) F1154S possibly damaging Het
Scn7a A G 2: 66,514,523 (GRCm39) F1084L probably damaging Het
Shmt1 G A 11: 60,695,173 (GRCm39) S47L probably damaging Het
Snap91 T C 9: 86,761,486 (GRCm39) K40R possibly damaging Het
Spag17 A T 3: 99,920,527 (GRCm39) T421S possibly damaging Het
Speer4f1 T A 5: 17,683,754 (GRCm39) N139K possibly damaging Het
Syne2 T G 12: 76,151,789 (GRCm39) N1883K probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Tmem39b A C 4: 129,578,290 (GRCm39) N310K possibly damaging Het
Trim3 T C 7: 105,267,417 (GRCm39) T321A probably benign Het
Vmn2r124 T C 17: 18,293,974 (GRCm39) I687T probably benign Het
Zbtb8a T C 4: 129,251,523 (GRCm39) D316G probably benign Het
Zfp764 T C 7: 127,003,913 (GRCm39) H406R probably benign Het
Other mutations in Zfp639
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Zfp639 APN 3 32,573,902 (GRCm39) splice site probably null
IGL00571:Zfp639 APN 3 32,574,068 (GRCm39) missense probably damaging 0.99
IGL00579:Zfp639 APN 3 32,574,626 (GRCm39) missense probably damaging 0.98
IGL01952:Zfp639 APN 3 32,569,496 (GRCm39) missense probably damaging 1.00
R0412:Zfp639 UTSW 3 32,571,259 (GRCm39) missense possibly damaging 0.92
R1195:Zfp639 UTSW 3 32,573,345 (GRCm39) missense possibly damaging 0.92
R1195:Zfp639 UTSW 3 32,573,345 (GRCm39) missense possibly damaging 0.92
R1195:Zfp639 UTSW 3 32,573,345 (GRCm39) missense possibly damaging 0.92
R2906:Zfp639 UTSW 3 32,573,900 (GRCm39) missense probably damaging 0.99
R4660:Zfp639 UTSW 3 32,574,679 (GRCm39) missense probably damaging 0.99
R5109:Zfp639 UTSW 3 32,574,585 (GRCm39) splice site probably null
R6012:Zfp639 UTSW 3 32,573,271 (GRCm39) missense probably damaging 1.00
R6321:Zfp639 UTSW 3 32,571,237 (GRCm39) missense probably damaging 1.00
R6449:Zfp639 UTSW 3 32,573,810 (GRCm39) missense possibly damaging 0.92
R7020:Zfp639 UTSW 3 32,574,261 (GRCm39) missense probably damaging 0.98
R8034:Zfp639 UTSW 3 32,574,215 (GRCm39) missense probably damaging 0.99
R9098:Zfp639 UTSW 3 32,573,885 (GRCm39) missense probably damaging 0.98
R9596:Zfp639 UTSW 3 32,574,269 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACTGGTGTGAGCAGTGTGAC -3'
(R):5'- AGATGCTTGCAATATTCCAACATGC -3'

Sequencing Primer
(F):5'- GTGACGTGCAGTTCTCCTCAAG -3'
(R):5'- ACAGTCATCACAAACATGAGGG -3'
Posted On 2019-06-07