Incidental Mutation 'R5599:Zfp365'
ID 438948
Institutional Source Beutler Lab
Gene Symbol Zfp365
Ensembl Gene ENSMUSG00000037855
Gene Name zinc finger protein 365
Synonyms Su48, DBZ
MMRRC Submission 043151-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5599 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 67721935-67748492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 67745197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 194 (E194K)
Ref Sequence ENSEMBL: ENSMUSP00000067197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064656]
AlphaFold Q8BG89
Predicted Effect probably damaging
Transcript: ENSMUST00000064656
AA Change: E194K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000067197
Gene: ENSMUSG00000037855
AA Change: E194K

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T A 7: 78,946,746 (GRCm39) probably null Het
Agpat3 T C 10: 78,110,103 (GRCm39) D282G probably benign Het
Ankhd1 G A 18: 36,693,860 (GRCm39) A24T probably damaging Het
Cracdl T C 1: 37,652,424 (GRCm39) N1128D possibly damaging Het
Cry1 A T 10: 84,980,114 (GRCm39) M398K probably benign Het
Dpp10 A G 1: 123,832,803 (GRCm39) I47T probably damaging Het
Fpr-rs6 C T 17: 20,402,375 (GRCm39) D329N probably benign Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gxylt1 CTCATCCGGGTCAT CTCAT 15: 93,152,198 (GRCm39) probably benign Het
Hnrnpul1 G A 7: 25,454,097 (GRCm39) probably benign Het
Lbx1 T A 19: 45,223,519 (GRCm39) S50C probably damaging Het
Lims2 A G 18: 32,090,324 (GRCm39) N183S probably benign Het
Lrp1 T C 10: 127,429,738 (GRCm39) N444S probably damaging Het
Mast4 A T 13: 102,873,987 (GRCm39) C1626S probably damaging Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Nf2 T C 11: 4,732,269 (GRCm39) E553G probably damaging Het
Nfatc4 A T 14: 56,069,733 (GRCm39) T704S probably benign Het
Or4c3d A G 2: 89,882,563 (GRCm39) V35A probably benign Het
Or56a3 T C 7: 104,735,757 (GRCm39) probably null Het
Or7g29 T G 9: 19,286,925 (GRCm39) N84T possibly damaging Het
Or9m1b T G 2: 87,836,349 (GRCm39) I258L probably benign Het
Plekha7 T A 7: 115,776,117 (GRCm39) probably null Het
Polr1a T C 6: 71,944,346 (GRCm39) M1271T possibly damaging Het
Ppip5k2 A G 1: 97,668,323 (GRCm39) M595T probably damaging Het
Ppox A T 1: 171,105,033 (GRCm39) V412D probably damaging Het
Ppp1r12b A G 1: 134,793,645 (GRCm39) V573A probably benign Het
Prkcb T C 7: 122,181,701 (GRCm39) Y430H probably benign Het
Psmd6 A C 14: 14,120,144 (GRCm38) M65R probably benign Het
Rbm12 G A 2: 155,938,713 (GRCm39) R520* probably null Het
Rin3 T C 12: 102,356,188 (GRCm39) F830L probably damaging Het
Sema4b A G 7: 79,863,039 (GRCm39) K104R probably benign Het
Slitrk1 T C 14: 109,149,244 (GRCm39) D489G probably benign Het
Spef2 T C 15: 9,729,789 (GRCm39) T110A possibly damaging Het
Sult2a6 T A 7: 13,988,629 (GRCm39) K44* probably null Het
Tasor A G 14: 27,201,886 (GRCm39) N1427D probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tcstv2c A C 13: 120,616,458 (GRCm39) Q99P probably damaging Het
Tnxb G T 17: 34,909,176 (GRCm39) G1445V probably damaging Het
Tnxb T C 17: 34,909,179 (GRCm39) V1569A probably benign Het
Zcchc2 A G 1: 105,959,880 (GRCm39) D1163G probably 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
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
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'- TAGCATCCAGTTTCATCAGCAC -3'
(R):5'- TCCTATGTGCAGACCTACACG -3'

Sequencing Primer
(F):5'- GCATCCAGTTTCATCAGCACTTACTC -3'
(R):5'- TGGACATCCGGGCTGACTC -3'
Posted On 2016-10-26