Incidental Mutation 'R5697:Zfp365'
ID 450747
Institutional Source Beutler Lab
Gene Symbol Zfp365
Ensembl Gene ENSMUSG00000037855
Gene Name zinc finger protein 365
Synonyms Su48, DBZ
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5697 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 67721935-67748492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67745470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 103 (Y103H)
Ref Sequence ENSEMBL: ENSMUSP00000067197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064656]
AlphaFold Q8BG89
Predicted Effect probably benign
Transcript: ENSMUST00000064656
AA Change: Y103H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000067197
Gene: ENSMUSG00000037855
AA Change: Y103H

DomainStartEndE-ValueType
ZnF_C2H2 26 51 4.05e-1 SMART
coiled coil region 170 298 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138543
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,713,630 (GRCm39) F550S possibly damaging Het
Adam34l A T 8: 44,079,616 (GRCm39) W203R probably damaging Het
Adamts15 G A 9: 30,823,090 (GRCm39) T326I probably damaging Het
Akap9 T C 5: 4,010,170 (GRCm39) L309P possibly damaging Het
Arfgef1 T C 1: 10,231,063 (GRCm39) M1149V probably benign Het
Atp6v0a4 C T 6: 38,027,442 (GRCm39) probably null Het
Capn9 C T 8: 125,315,810 (GRCm39) H39Y unknown Het
Ccn2 A G 10: 24,473,354 (GRCm39) T298A probably benign Het
Celsr2 G A 3: 108,311,237 (GRCm39) Q1425* probably null Het
Chd6 A G 2: 160,859,971 (GRCm39) L610P probably damaging Het
Clasp2 A T 9: 113,689,190 (GRCm39) T424S probably benign Het
Clec5a T C 6: 40,559,204 (GRCm39) D35G probably benign Het
Dnhd1 T G 7: 105,323,395 (GRCm39) V599G probably damaging Het
Enpep T C 3: 129,102,772 (GRCm39) T395A probably benign Het
Evc2 G T 5: 37,527,952 (GRCm39) L320F probably damaging Het
H2bc22 C T 13: 21,971,961 (GRCm39) probably null Het
Hivep3 C T 4: 119,954,152 (GRCm39) H823Y possibly damaging Het
Ighv1-59 C T 12: 115,298,968 (GRCm39) E29K possibly damaging Het
Itsn1 A G 16: 91,598,477 (GRCm39) I137V possibly damaging Het
Kntc1 A G 5: 123,903,070 (GRCm39) T316A probably benign Het
Map4k5 T C 12: 69,877,210 (GRCm39) T312A probably benign Het
Megf6 G T 4: 154,342,686 (GRCm39) A642S probably null Het
Mrgprb3 G T 7: 48,292,673 (GRCm39) L293M probably damaging Het
Nes A G 3: 87,885,155 (GRCm39) E1138G probably damaging Het
Niban1 T C 1: 151,576,012 (GRCm39) F379L probably damaging Het
Pias2 A G 18: 77,220,884 (GRCm39) K373R probably damaging Het
Prss23 A G 7: 89,159,190 (GRCm39) F293S probably damaging Het
Pzp A G 6: 128,502,152 (GRCm39) Y66H probably benign Het
Rnf213 A G 11: 119,374,720 (GRCm39) R5061G possibly damaging Het
Sergef A G 7: 46,288,683 (GRCm39) probably benign Het
Slc7a1 A G 5: 148,270,792 (GRCm39) V558A probably benign Het
Smc2 A G 4: 52,459,045 (GRCm39) E480G probably benign Het
Smyd3 T G 1: 179,239,247 (GRCm39) K111T probably damaging Het
Tchh A T 3: 93,352,350 (GRCm39) R597* probably null Het
Ttc6 G T 12: 57,724,000 (GRCm39) V1043L probably benign Het
Vmn1r10 T G 6: 57,090,474 (GRCm39) L22R probably damaging Het
Vmn2r56 T C 7: 12,449,917 (GRCm39) D107G probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Zfp39 G T 11: 58,780,661 (GRCm39) H700Q probably benign Het
Zfp982 A T 4: 147,597,046 (GRCm39) E134D probably benign 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
R4279:Zfp365 UTSW 10 67,733,431 (GRCm39) missense probably benign 0.44
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
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'- ACTTTTCTCGGACGTGAGCC -3'
(R):5'- AGACCATACCAGATTTAGAAGCTTG -3'

Sequencing Primer
(F):5'- GCCTCGAAAGCAGCTTTGGTATC -3'
(R):5'- CTTGAGGGCCCATCTGGAATTC -3'
Posted On 2017-01-03