Incidental Mutation 'R2906:Zfp639'
ID 261643
Institutional Source Beutler Lab
Gene Symbol Zfp639
Ensembl Gene ENSMUSG00000027667
Gene Name zinc finger protein 639
Synonyms 6230400O18Rik
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R2906 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 32564408-32574982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32573900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 175 (L175P)
Ref Sequence ENSEMBL: ENSMUSP00000141341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029203] [ENSMUST00000191783] [ENSMUST00000192985] [ENSMUST00000193119] [ENSMUST00000193287]
AlphaFold Q99KZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000029203
AA Change: L175P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: L175P

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: L175P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: L175P

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: L175P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: L175P

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 noncoding transcript
Transcript: ENSMUST00000194126
Predicted Effect probably benign
Transcript: ENSMUST00000193789
Meta Mutation Damage Score 0.0700 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Col13a1 T C 10: 61,696,267 (GRCm39) probably benign Het
Ddx4 G T 13: 112,757,311 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Duoxa1 C T 2: 122,135,155 (GRCm39) V197M probably benign Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Oxct2b A G 4: 123,010,823 (GRCm39) I248V probably benign Het
Pcdhgb2 A T 18: 37,823,908 (GRCm39) I300F probably damaging Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Scamp5 A G 9: 57,351,146 (GRCm39) V172A probably damaging Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G 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
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'- CTGTGATGAAGAATGTGCCTCAC -3'
(R):5'- AGAAGCTTTCCTTACACACCCG -3'

Sequencing Primer
(F):5'- TGAAGAATGTGCCTCACCTGAGTC -3'
(R):5'- GACACACATTCGAGTCAGTGCG -3'
Posted On 2015-01-23