Incidental Mutation 'R8251:Zfp397'
ID 640261
Institutional Source Beutler Lab
Gene Symbol Zfp397
Ensembl Gene ENSMUSG00000024276
Gene Name zinc finger protein 397
Synonyms 2810411K16Rik, 6720480F11Rik
MMRRC Submission 067677-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R8251 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 24087749-24097730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24093361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 282 (V282A)
Ref Sequence ENSEMBL: ENSMUSP00000057253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060762]
AlphaFold Q7TNK4
Predicted Effect probably benign
Transcript: ENSMUST00000060762
AA Change: V282A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057253
Gene: ENSMUSG00000024276
AA Change: V282A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A T 9: 103,968,906 (GRCm39) D463V possibly damaging Het
Adamtsl4 C T 3: 95,591,884 (GRCm39) R68Q probably damaging Het
Ankrd12 A T 17: 66,291,554 (GRCm39) M1293K possibly damaging Het
Arhgap21 T C 2: 20,854,221 (GRCm39) T1724A probably benign Het
C1qtnf12 T C 4: 156,050,916 (GRCm39) I295T probably damaging Het
Cacna1s G T 1: 136,014,461 (GRCm39) G623W probably damaging Het
Cemip2 T C 19: 21,784,765 (GRCm39) V416A possibly damaging Het
Cenpe T A 3: 134,957,445 (GRCm39) probably null Het
Cep85l A T 10: 53,157,450 (GRCm39) I751N probably damaging Het
Corin T A 5: 72,514,269 (GRCm39) D468V probably damaging Het
Ctsr A G 13: 61,310,592 (GRCm39) V51A probably damaging Het
Dnah14 A C 1: 181,492,430 (GRCm39) E1630A probably damaging Het
Dsg4 C A 18: 20,604,221 (GRCm39) A896E probably damaging Het
Ear2 T C 14: 44,340,477 (GRCm39) L45P probably benign Het
Fshr T G 17: 89,507,913 (GRCm39) D43A probably benign Het
Gata6 G A 18: 11,054,670 (GRCm39) G200S probably benign Het
Gnaq T A 19: 16,312,419 (GRCm39) M227K probably damaging Het
Ifit1bl1 T C 19: 34,572,232 (GRCm39) Q75R possibly damaging Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Ints7 C T 1: 191,353,545 (GRCm39) P957L unknown Het
Jmjd1c T C 10: 67,075,068 (GRCm39) V73A noncoding transcript Het
Kansl1 A G 11: 104,315,186 (GRCm39) I284T probably benign Het
Kcnj9 A G 1: 172,154,089 (GRCm39) S12P probably benign Het
Krt16 A G 11: 100,139,196 (GRCm39) probably null Het
Lrguk A T 6: 34,093,374 (GRCm39) T632S probably benign Het
Man2b1 G A 8: 85,821,758 (GRCm39) V687M probably damaging Het
Mroh5 T C 15: 73,655,002 (GRCm39) E653G probably benign Het
Nabp1 A T 1: 51,516,737 (GRCm39) S44T probably benign Het
Nt5dc3 C A 10: 86,656,091 (GRCm39) H256Q probably damaging Het
Or1j15 A C 2: 36,459,467 (GRCm39) N286H probably damaging Het
Or4a81 A T 2: 89,619,567 (GRCm39) I43N probably damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Pkd2 T C 5: 104,646,353 (GRCm39) V720A probably benign Het
Pnpla6 T A 8: 3,582,399 (GRCm39) N706K probably benign Het
Polr1b C A 2: 128,965,086 (GRCm39) P724Q probably damaging Het
Rbpjl A G 2: 164,255,854 (GRCm39) E366G probably damaging Het
Runx1t1 A G 4: 13,846,947 (GRCm39) T244A possibly damaging Het
Slitrk3 C T 3: 72,956,729 (GRCm39) R681H possibly damaging Het
Slu7 A G 11: 43,330,128 (GRCm39) Y185C probably damaging Het
Snupn T A 9: 56,888,137 (GRCm39) F231L probably damaging Het
Srpk2 G A 5: 23,729,266 (GRCm39) P458S probably benign Het
St3gal5 T A 6: 72,126,144 (GRCm39) F330I probably benign Het
Taf3 T C 2: 9,922,962 (GRCm39) D878G possibly damaging Het
Tex44 A G 1: 86,354,936 (GRCm39) N282D probably benign Het
Tmem126a T C 7: 90,100,094 (GRCm39) I150V probably benign Het
Trbv21 A G 6: 41,179,540 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,215,186 (GRCm39) L116* probably null Het
Vps36 A G 8: 22,682,932 (GRCm39) T16A probably benign Het
Wdr17 C A 8: 55,110,267 (GRCm39) G837W 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
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
R9164:Zfp397 UTSW 18 24,089,828 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCAAAGAAGTTCCCCTGTC -3'
(R):5'- ACCTGTGCCTAAAAGCCTTC -3'

Sequencing Primer
(F):5'- TCCACAGGGGCAGTTTTAGTCAAG -3'
(R):5'- GCTCTGAGCTCTGCTTGAAAGC -3'
Posted On 2020-07-28