Incidental Mutation 'R6387:Zfp993'
ID 514648
Institutional Source Beutler Lab
Gene Symbol Zfp993
Ensembl Gene ENSMUSG00000063245
Gene Name zinc finger protein 993
Synonyms Gm13248
MMRRC Submission 044536-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6387 (G1)
Quality Score 138.008
Status Validated
Chromosome 4
Chromosomal Location 146695418-146742617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146741975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 100 (T100A)
Ref Sequence ENSEMBL: ENSMUSP00000121301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070932] [ENSMUST00000130825]
AlphaFold E9Q4Q0
Predicted Effect probably benign
Transcript: ENSMUST00000070932
AA Change: T100A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000065923
Gene: ENSMUSG00000063245
AA Change: T100A

DomainStartEndE-ValueType
KRAB 13 74 5.08e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130825
AA Change: T100A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121301
Gene: ENSMUSG00000063245
AA Change: T100A

DomainStartEndE-ValueType
KRAB 13 74 5.08e-16 SMART
ZnF_C2H2 240 262 4.47e-3 SMART
ZnF_C2H2 268 290 5.21e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181199
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,881 (GRCm39) K326E possibly damaging Het
Acot1 A G 12: 84,056,627 (GRCm39) D115G probably benign Het
Adm T C 7: 110,227,502 (GRCm39) I6T possibly damaging Het
Ahi1 A G 10: 20,844,942 (GRCm39) Y349C probably damaging Het
Aldh1a1 A G 19: 20,595,323 (GRCm39) E84G probably damaging Het
Ankrd31 A G 13: 96,967,081 (GRCm39) D520G probably damaging Het
Ano4 A T 10: 88,807,267 (GRCm39) Y736* probably null Het
Atp6v1a A G 16: 43,907,806 (GRCm39) F612S possibly damaging Het
Bltp3b C T 10: 89,638,919 (GRCm39) Q442* probably null Het
Calcb G A 7: 114,319,025 (GRCm39) V17I possibly damaging Het
Cfap70 C T 14: 20,498,643 (GRCm39) V15M probably damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Csgalnact1 C T 8: 68,811,365 (GRCm39) G435D probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eprs1 T A 1: 185,119,281 (GRCm39) M487K possibly damaging Het
Fat4 A G 3: 39,037,934 (GRCm39) E3862G probably damaging Het
Gdf10 T A 14: 33,645,961 (GRCm39) S37T probably benign Het
Hhatl T A 9: 121,619,467 (GRCm39) H39L probably benign Het
Icam4 A C 9: 20,941,505 (GRCm39) S215R possibly damaging Het
Ighv1-18 T C 12: 114,646,280 (GRCm39) E108G probably damaging Het
Iqcd T C 5: 120,744,920 (GRCm39) I416T probably benign Het
Marf1 T A 16: 13,959,504 (GRCm39) *577L probably null Het
Mark2 A G 19: 7,263,267 (GRCm39) F167L probably damaging Het
Mpdz T C 4: 81,299,946 (GRCm39) T351A possibly damaging Het
Mrps27 A G 13: 99,536,825 (GRCm39) I113V possibly damaging Het
Numbl C T 7: 26,976,115 (GRCm39) T265I probably damaging Het
Obsl1 C T 1: 75,468,006 (GRCm39) A1296T probably benign Het
Or10g9 A G 9: 39,912,148 (GRCm39) I125T probably damaging Het
Pcdhb21 A G 18: 37,648,385 (GRCm39) I505V probably benign Het
Pfas A G 11: 68,891,291 (GRCm39) F269L probably damaging Het
Prkdc G A 16: 15,516,679 (GRCm39) V1018I probably benign Het
Prl4a1 T A 13: 28,202,482 (GRCm39) V19E possibly damaging Het
Ptpn22 A G 3: 103,792,702 (GRCm39) D327G probably benign Het
Smad3 G T 9: 63,562,047 (GRCm39) D310E probably benign Het
Sparcl1 T A 5: 104,232,926 (GRCm39) D625V probably damaging Het
Spta1 G A 1: 174,058,899 (GRCm39) A1945T probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sympk T C 7: 18,786,423 (GRCm39) Y1009H possibly damaging Het
Trio A G 15: 27,752,825 (GRCm39) F1026L probably damaging Het
Unc5d T A 8: 29,365,554 (GRCm39) K144* probably null Het
Unk A G 11: 115,945,766 (GRCm39) N479S possibly damaging Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Other mutations in Zfp993
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02490:Zfp993 APN 4 146,742,074 (GRCm39) missense probably damaging 0.99
R3971:Zfp993 UTSW 4 146,742,089 (GRCm39) missense probably benign 0.01
R4986:Zfp993 UTSW 4 146,742,014 (GRCm39) missense probably benign 0.12
R7425:Zfp993 UTSW 4 146,742,098 (GRCm39) missense possibly damaging 0.94
R8062:Zfp993 UTSW 4 146,739,415 (GRCm39) critical splice donor site probably null
R8117:Zfp993 UTSW 4 146,741,972 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAGTACGAATCCATGAGATCACTG -3'
(R):5'- AAAGCCTTCTCAGATTCTGCATTTC -3'

Sequencing Primer
(F):5'- AGTAATTCATGTCACCTCTAATTGCC -3'
(R):5'- CAGATTCTGCATTTCCGTTGTG -3'
Posted On 2018-05-04