Incidental Mutation 'ANU22:Zfp397'
ID 262615
Institutional Source Beutler Lab
Gene Symbol Zfp397
Ensembl Gene ENSMUSG00000024276
Gene Name zinc finger protein 397
Synonyms 2810411K16Rik, 6720480F11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # ANU22
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 24087749-24097730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24093808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 431 (S431L)
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: S431L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057253
Gene: ENSMUSG00000024276
AA Change: S431L

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 noncoding transcript
Transcript: ENSMUST00000223595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224107
Predicted Effect probably benign
Transcript: ENSMUST00000225682
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 98.1%
  • 10x: 96.2%
  • 20x: 92.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts2 A G 11: 50,628,190 (GRCm39) N297D probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Caln1 A G 5: 130,698,392 (GRCm39) E96G probably damaging Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fasl A G 1: 161,609,407 (GRCm39) V193A probably damaging Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Gabrp T C 11: 33,505,055 (GRCm39) T249A probably damaging Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Grm6 A T 11: 50,750,346 (GRCm39) D503V probably benign Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ppil1 C A 17: 29,482,862 (GRCm39) V14F possibly damaging Het
Ptprd C A 4: 76,018,693 (GRCm39) D694Y probably damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Skic8 C A 9: 54,635,470 (GRCm39) V44L probably damaging Het
Sptbn4 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Other mutations in Zfp397
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01903:Zfp397 APN 18 24,093,086 (GRCm39) missense probably benign
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
R8135:Zfp397 UTSW 18 24,089,564 (GRCm39) missense probably damaging 1.00
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'- GCAGCAAAGAAGTTCCCCTGTCC -3'
(R):5'- CTGACCTGTGCCTAAAAGCCTTCC -3'

Sequencing Primer
(F):5'- acaacatttctctctaacacaacatc -3'
(R):5'- ttcattacatatatacgcttcatccc -3'
Posted On 2015-02-04