Incidental Mutation 'R8135:Zfp397'
ID 632237
Institutional Source Beutler Lab
Gene Symbol Zfp397
Ensembl Gene ENSMUSG00000024276
Gene Name zinc finger protein 397
Synonyms 2810411K16Rik, 6720480F11Rik
MMRRC Submission 067563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8135 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 24087749-24097730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24089564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 23 (V23E)
Ref Sequence ENSEMBL: ENSMUSP00000057253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060762] [ENSMUST00000225682]
AlphaFold Q7TNK4
Predicted Effect probably damaging
Transcript: ENSMUST00000060762
AA Change: V23E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057253
Gene: ENSMUSG00000024276
AA Change: V23E

DomainStartEndE-ValueType
SCAN 46 158 4e-68 SMART
ZnF_C2H2 278 300 1.58e-3 SMART
ZnF_C2H2 306 328 7.37e-4 SMART
ZnF_C2H2 334 356 1.22e-4 SMART
ZnF_C2H2 362 384 9.58e-3 SMART
ZnF_C2H2 390 412 3.95e-4 SMART
ZnF_C2H2 418 440 1.6e-4 SMART
ZnF_C2H2 446 468 4.54e-4 SMART
ZnF_C2H2 474 496 3.49e-5 SMART
ZnF_C2H2 502 524 2.12e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000225682
AA Change: V23E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,674,712 (GRCm39) I420V probably benign Het
Adam7 A T 14: 68,754,022 (GRCm39) M359K probably damaging Het
Adra1d C T 2: 131,403,692 (GRCm39) A133T probably damaging Het
B3galnt2 T A 13: 14,145,454 (GRCm39) probably null Het
Camk1g A G 1: 193,036,335 (GRCm39) V175A possibly damaging Het
Cfi A G 3: 129,648,649 (GRCm39) N178D probably benign Het
Csf2rb T A 15: 78,232,319 (GRCm39) I542K possibly damaging Het
Ctsz T C 2: 174,270,946 (GRCm39) T183A probably benign Het
Dhx8 A G 11: 101,629,090 (GRCm39) D213G unknown Het
Dph7 T C 2: 24,859,556 (GRCm39) I271T probably benign Het
Edem1 G T 6: 108,806,022 (GRCm39) E108* probably null Het
Enpp4 T C 17: 44,412,226 (GRCm39) T328A probably benign Het
Fasl A G 1: 161,614,697 (GRCm39) V122A probably benign Het
Fut2 T C 7: 45,300,566 (GRCm39) T69A probably damaging Het
Gaa T C 11: 119,169,210 (GRCm39) probably null Het
Galnt5 T A 2: 57,904,880 (GRCm39) V481D probably damaging Het
Gsdma2 A G 11: 98,542,872 (GRCm39) I211V probably benign Het
H2-M10.4 T C 17: 36,772,662 (GRCm39) T107A probably benign Het
Iqcg T A 16: 32,849,394 (GRCm39) K297N probably benign Het
Map2 A G 1: 66,452,828 (GRCm39) T573A probably damaging Het
Nhsl1 A G 10: 18,407,180 (GRCm39) D1438G probably damaging Het
Nipal2 A T 15: 34,678,719 (GRCm39) Y41N possibly damaging Het
Obscn A T 11: 58,922,703 (GRCm39) S5878T possibly damaging Het
Pde6a T C 18: 61,418,996 (GRCm39) F791L probably damaging Het
Phip A T 9: 82,812,427 (GRCm39) N308K probably benign Het
Pigc A G 1: 161,798,134 (GRCm39) K39E possibly damaging Het
Robo2 T G 16: 73,730,048 (GRCm39) I1050L probably benign Het
Rps2 A G 17: 24,939,409 (GRCm39) K54E probably benign Het
Set T A 2: 29,959,439 (GRCm39) D137E probably benign Het
Sipa1l1 A G 12: 82,388,075 (GRCm39) I100M probably benign Het
Spdye4b T C 5: 143,180,777 (GRCm39) V81A probably damaging Het
Tbc1d2 T C 4: 46,609,071 (GRCm39) D722G probably benign Het
Tecpr1 T A 5: 144,135,420 (GRCm39) D1011V probably damaging Het
Unc80 A T 1: 66,548,446 (GRCm39) I573F possibly damaging Het
Vmn1r74 T A 7: 11,581,530 (GRCm39) C277S probably benign Het
Vwa1 T A 4: 155,857,351 (GRCm39) D149V probably damaging Het
Zmynd8 T C 2: 165,654,346 (GRCm39) D722G probably damaging Het
Other mutations in Zfp397
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01903:Zfp397 APN 18 24,093,086 (GRCm39) missense probably benign
ANU22:Zfp397 UTSW 18 24,093,808 (GRCm39) missense probably damaging 1.00
R1986:Zfp397 UTSW 18 24,093,108 (GRCm39) missense possibly damaging 0.72
R4676:Zfp397 UTSW 18 24,093,854 (GRCm39) nonsense probably null
R4824:Zfp397 UTSW 18 24,093,249 (GRCm39) missense probably benign 0.02
R5471:Zfp397 UTSW 18 24,093,081 (GRCm39) missense probably benign 0.00
R5735:Zfp397 UTSW 18 24,093,249 (GRCm39) missense possibly damaging 0.76
R7134:Zfp397 UTSW 18 24,090,122 (GRCm39) missense probably benign
R7231:Zfp397 UTSW 18 24,093,415 (GRCm39) missense probably damaging 1.00
R7753:Zfp397 UTSW 18 24,090,129 (GRCm39) missense probably benign 0.00
R8213:Zfp397 UTSW 18 24,093,779 (GRCm39) missense probably damaging 1.00
R8251:Zfp397 UTSW 18 24,093,361 (GRCm39) missense probably benign 0.13
R9164:Zfp397 UTSW 18 24,089,828 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTAAGTTACAATGCTTTCATG -3'
(R):5'- GCACTAACAGTTCTAGGATCTGC -3'

Sequencing Primer
(F):5'- TGCTTTCATGTATTGTAGGAAAGAAG -3'
(R):5'- TGTGCAACTCTGGCATTAGC -3'
Posted On 2020-06-30