Incidental Mutation 'R9596:Zfp639'
ID 723257
Institutional Source Beutler Lab
Gene Symbol Zfp639
Ensembl Gene ENSMUSG00000027667
Gene Name zinc finger protein 639
Synonyms 6230400O18Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R9596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 32564408-32574982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32574269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 298 (F298S)
Ref Sequence ENSEMBL: ENSMUSP00000029203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029203] [ENSMUST00000191783] [ENSMUST00000192985] [ENSMUST00000193119] [ENSMUST00000193287]
AlphaFold Q99KZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000029203
AA Change: F298S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: F298S

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: F298S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: F298S

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: F298S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: F298S

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: ENSMUST00000193789
AA Change: S106P

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp G T 1: 74,320,262 (GRCm39) Q355K probably benign Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
AI661453 T C 17: 47,780,411 (GRCm39) S188P unknown Het
Atp10a A G 7: 58,477,553 (GRCm39) S1251G probably damaging Het
Ccr10 A G 11: 101,065,018 (GRCm39) F171L probably benign Het
Clec10a A T 11: 70,059,973 (GRCm39) D65V probably damaging Het
Clybl A T 14: 122,548,768 (GRCm39) I57L probably benign Het
Col5a1 G T 2: 27,819,551 (GRCm39) E218* probably null Het
Diaph1 G A 18: 38,024,111 (GRCm39) P576S unknown Het
Dsg1c T A 18: 20,416,361 (GRCm39) I754N probably benign Het
Fam47e G C 5: 92,726,395 (GRCm39) R111P probably benign Het
Fastkd3 G A 13: 68,735,806 (GRCm39) V519M probably damaging Het
Fhod3 T A 18: 25,193,392 (GRCm39) Y634* probably null Het
Frem3 G A 8: 81,341,951 (GRCm39) V1415I probably benign Het
Herc2 G A 7: 55,834,595 (GRCm39) S3191N Het
Kif19a A T 11: 114,676,752 (GRCm39) E527V probably benign Het
Lmbr1 C A 5: 29,440,105 (GRCm39) G420* probably null Het
Map3k9 A G 12: 81,777,404 (GRCm39) S526P probably damaging Het
Mink1 T A 11: 70,497,915 (GRCm39) L506Q possibly damaging Het
Mroh9 T C 1: 162,893,576 (GRCm39) I200V probably damaging Het
Mrps14 T C 1: 160,027,122 (GRCm39) V110A possibly damaging Het
Mta1 A G 12: 113,090,470 (GRCm39) Q209R probably damaging Het
Mtss2 G A 8: 111,458,689 (GRCm39) S195N Het
Nlgn1 T A 3: 25,488,587 (GRCm39) I583F probably damaging Het
Ntng1 T C 3: 110,042,956 (GRCm39) probably benign Het
Or10w1 A G 19: 13,632,002 (GRCm39) S70G probably damaging Het
Or1p1c C T 11: 74,160,289 (GRCm39) H25Y probably benign Het
Or2ag13 A T 7: 106,313,412 (GRCm39) Y159N probably benign Het
Or5ac25 A G 16: 59,181,942 (GRCm39) I213T possibly damaging Het
Or6c65 A G 10: 129,603,988 (GRCm39) T208A probably damaging Het
Pcdha12 A T 18: 37,154,302 (GRCm39) L340F probably benign Het
Pdk4 T A 6: 5,491,842 (GRCm39) M173L probably benign Het
Pds5a A G 5: 65,772,830 (GRCm39) S1258P probably benign Het
Plcd1 A T 9: 118,917,183 (GRCm39) L22Q probably benign Het
Prag1 A G 8: 36,570,113 (GRCm39) D232G probably damaging Het
Rest C T 5: 77,423,141 (GRCm39) T315M probably damaging Het
Scrn2 G A 11: 96,923,907 (GRCm39) V264M probably damaging Het
Sipa1l3 C A 7: 29,031,691 (GRCm39) V1513F probably benign Het
Skic3 T C 13: 76,330,968 (GRCm39) V1466A possibly damaging Het
Slc44a1 T A 4: 53,544,553 (GRCm39) N421K probably benign Het
Smc6 G T 12: 11,345,045 (GRCm39) R662I probably damaging Het
Spata31e5 C A 1: 28,815,688 (GRCm39) M781I probably benign Het
Srcap T A 7: 127,131,036 (GRCm39) W751R probably damaging Het
Sv2b A G 7: 74,767,462 (GRCm39) F645L probably damaging Het
Sycp2 A G 2: 177,990,212 (GRCm39) probably null Het
Syne4 A G 7: 30,014,504 (GRCm39) T41A probably benign Het
Tns3 G A 11: 8,401,142 (GRCm39) T1052M possibly damaging Het
Trap1 A T 16: 3,871,374 (GRCm39) I381N probably damaging Het
Tshz1 A G 18: 84,031,904 (GRCm39) S835P possibly damaging Het
Ube3b T A 5: 114,527,171 (GRCm39) W130R probably damaging Het
Ubr5 G A 15: 37,986,213 (GRCm39) T2207I Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r11 T G 5: 109,201,563 (GRCm39) I314L possibly damaging Het
Vmn2r15 T A 5: 109,440,791 (GRCm39) I356L probably benign Het
Vmn2r31 G T 7: 7,397,292 (GRCm39) T322N probably benign Het
Vmn2r8 A T 5: 108,947,196 (GRCm39) F519I possibly damaging Het
Wdr35 T C 12: 9,036,092 (GRCm39) F288L probably benign Het
Xab2 A T 8: 3,663,018 (GRCm39) V521D probably damaging Het
Zfp786 G A 6: 47,797,406 (GRCm39) R511* probably null Het
Zfp936 T A 7: 42,839,834 (GRCm39) C434S probably damaging Het
Zranb1 T C 7: 132,552,146 (GRCm39) F266L 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
PIT4514001:Zfp639 UTSW 3 32,574,409 (GRCm39) missense possibly damaging 0.46
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
Predicted Primers PCR Primer
(F):5'- ACTGACTCGAATGTGTGTCGG -3'
(R):5'- GCTTAAAAGGCTGCACTGC -3'

Sequencing Primer
(F):5'- GTGTGTAAGGAAAGCTTCTCTACC -3'
(R):5'- GCCCATGGCCACCACTG -3'
Posted On 2022-08-09