Incidental Mutation 'R4279:Zfp365'
ID 322809
Institutional Source Beutler Lab
Gene Symbol Zfp365
Ensembl Gene ENSMUSG00000037855
Gene Name zinc finger protein 365
Synonyms Su48, DBZ
MMRRC Submission 041079-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4279 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 67721935-67748492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67733431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 254 (F254I)
Ref Sequence ENSEMBL: ENSMUSP00000067197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064656]
AlphaFold Q8BG89
Predicted Effect probably benign
Transcript: ENSMUST00000064656
AA Change: F254I

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067197
Gene: ENSMUSG00000037855
AA Change: F254I

DomainStartEndE-ValueType
ZnF_C2H2 26 51 4.05e-1 SMART
coiled coil region 170 298 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138543
Meta Mutation Damage Score 0.0807 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal cortical basket cells in the somatosensory cortices, delayed myelination in the corpus callosum during the early postnatal period, and an increase in immature oligodendrocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T A 15: 96,269,637 (GRCm39) L1250Q probably damaging Het
Ccdc73 A T 2: 104,815,355 (GRCm39) N364Y possibly damaging Het
Ccl25 T A 8: 4,399,829 (GRCm39) L56Q probably damaging Het
Ctnnd2 C A 15: 30,905,966 (GRCm39) A871E probably damaging Het
Cyp2b23 C T 7: 26,365,452 (GRCm39) S461N possibly damaging Het
Dgat2 C A 7: 98,813,912 (GRCm39) G120V probably damaging Het
Dsp A T 13: 38,369,207 (GRCm39) I768F probably damaging Het
Dzank1 T C 2: 144,333,765 (GRCm39) E356G probably benign Het
Fam120a A T 13: 49,042,734 (GRCm39) V889D probably benign Het
Fxyd5 C A 7: 30,734,811 (GRCm39) D139Y probably null Het
Gcnt2 T C 13: 41,041,666 (GRCm39) V275A probably benign Het
Gimap4 A G 6: 48,667,511 (GRCm39) I89V probably benign Het
Gm6578 G A 6: 12,100,187 (GRCm39) noncoding transcript Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Jmy G C 13: 93,635,390 (GRCm39) P142R probably damaging Het
Jmy C A 13: 93,635,781 (GRCm39) D12Y probably damaging Het
Kif13b G T 14: 65,016,805 (GRCm39) A1324S probably damaging Het
Klhl31 T C 9: 77,563,121 (GRCm39) S629P unknown Het
Lpar1 A G 4: 58,487,115 (GRCm39) V52A possibly damaging Het
Lrp5 A G 19: 3,641,778 (GRCm39) S1395P possibly damaging Het
Mogs T C 6: 83,093,048 (GRCm39) L132P probably damaging Het
Ncam1 C A 9: 49,418,259 (GRCm39) probably benign Het
Ndufs8 A T 19: 3,961,014 (GRCm39) F88I probably damaging Het
Nos2 T A 11: 78,820,602 (GRCm39) L69Q probably benign Het
Or51a6 T A 7: 102,604,292 (GRCm39) Q179L probably benign Het
Pls3 A T X: 74,846,138 (GRCm39) I192N probably benign Het
Psmd6 T C 14: 14,112,297 (GRCm38) N388S possibly damaging Het
Rrbp1 T C 2: 143,805,028 (GRCm39) T1046A probably benign Het
Scn11a T C 9: 119,583,428 (GRCm39) E1729G probably benign Het
Slc6a3 A G 13: 73,692,953 (GRCm39) D191G possibly damaging Het
Slc9a1 T C 4: 133,139,400 (GRCm39) F206S probably benign Het
Tmc5 A G 7: 118,273,886 (GRCm39) *968W probably null Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc13a T C 8: 72,119,311 (GRCm39) K9R probably damaging Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vmn1r119 T A 7: 20,745,786 (GRCm39) M199L probably benign Het
Vnn1 A T 10: 23,774,410 (GRCm39) D151V possibly damaging Het
Other mutations in Zfp365
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Zfp365 APN 10 67,745,184 (GRCm39) missense probably damaging 1.00
IGL03257:Zfp365 APN 10 67,724,868 (GRCm39) missense possibly damaging 0.76
ANU18:Zfp365 UTSW 10 67,745,184 (GRCm39) missense probably damaging 1.00
R0482:Zfp365 UTSW 10 67,733,436 (GRCm39) missense probably damaging 1.00
R1800:Zfp365 UTSW 10 67,724,772 (GRCm39) missense probably damaging 0.98
R1986:Zfp365 UTSW 10 67,745,686 (GRCm39) missense probably damaging 1.00
R4475:Zfp365 UTSW 10 67,724,750 (GRCm39) missense possibly damaging 0.87
R4951:Zfp365 UTSW 10 67,725,821 (GRCm39) critical splice acceptor site probably null
R5599:Zfp365 UTSW 10 67,745,197 (GRCm39) missense probably damaging 1.00
R5682:Zfp365 UTSW 10 67,745,637 (GRCm39) missense probably damaging 1.00
R5697:Zfp365 UTSW 10 67,745,470 (GRCm39) missense probably benign 0.01
R5837:Zfp365 UTSW 10 67,724,870 (GRCm39) missense probably damaging 1.00
R5982:Zfp365 UTSW 10 67,733,437 (GRCm39) missense probably damaging 1.00
R6974:Zfp365 UTSW 10 67,745,594 (GRCm39) missense probably damaging 1.00
R7043:Zfp365 UTSW 10 67,745,656 (GRCm39) missense probably damaging 1.00
R7861:Zfp365 UTSW 10 67,745,749 (GRCm39) missense probably damaging 0.98
R8700:Zfp365 UTSW 10 67,745,535 (GRCm39) missense possibly damaging 0.78
R8964:Zfp365 UTSW 10 67,745,088 (GRCm39) missense probably damaging 1.00
Z1176:Zfp365 UTSW 10 67,745,090 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- GGGACTCACCATATGCTCACTAG -3'
(R):5'- ACCTTGTACCTAGTTCCAATGCTG -3'

Sequencing Primer
(F):5'- ATATGCTCACTAGTGTCACAGC -3'
(R):5'- TGCTGTTAACTCCTGACAGAAC -3'
Posted On 2015-06-20