Incidental Mutation 'R4986:Zfp993'
ID 385873
Institutional Source Beutler Lab
Gene Symbol Zfp993
Ensembl Gene ENSMUSG00000063245
Gene Name zinc finger protein 993
Synonyms Gm13248
MMRRC Submission 042580-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R4986 (G1)
Quality Score 103
Status Not validated
Chromosome 4
Chromosomal Location 146695418-146742617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146742014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 113 (F113I)
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: F113I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000065923
Gene: ENSMUSG00000063245
AA Change: F113I

DomainStartEndE-ValueType
KRAB 13 74 5.08e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130825
AA Change: F113I

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000121301
Gene: ENSMUSG00000063245
AA Change: F113I

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.2%
Validation Efficiency 95% (41/43)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,573,317 (GRCm39) C1005S probably benign Het
Armh4 A T 14: 49,989,111 (GRCm39) D619E probably damaging Het
Ccdc34 T C 2: 109,848,214 (GRCm39) M1T probably null Het
Ceacam5 T A 7: 17,491,758 (GRCm39) N709K possibly damaging Het
Ces2f G A 8: 105,678,657 (GRCm39) S298N probably benign Het
Defa30 T A 8: 21,625,432 (GRCm39) Y65* probably null Het
Dock3 A C 9: 106,809,182 (GRCm39) C1314G probably damaging Het
Emc2 A G 15: 43,375,180 (GRCm39) M226V probably benign Het
Fat3 T C 9: 15,909,636 (GRCm39) Y2122C probably damaging Het
Gad1 A G 2: 70,431,037 (GRCm39) D560G probably benign Het
Gm9944 T C 4: 144,179,760 (GRCm39) probably benign Het
Gpr137c A T 14: 45,483,743 (GRCm39) probably null Het
Igf2bp2 C T 16: 21,889,056 (GRCm39) probably null Het
Igsf10 T C 3: 59,236,027 (GRCm39) T1385A probably benign Het
Itpr2 T A 6: 146,141,840 (GRCm39) N1734I probably damaging Het
Kbtbd6 A G 14: 79,690,049 (GRCm39) H248R probably damaging Het
Macf1 C T 4: 123,284,914 (GRCm39) R5650Q probably damaging Het
Mdh1 A G 11: 21,508,545 (GRCm39) F266L possibly damaging Het
Mecom G T 3: 30,034,848 (GRCm39) P466Q probably damaging Het
Muc20 A G 16: 32,598,009 (GRCm39) probably benign Het
Or4x11 A T 2: 89,867,772 (GRCm39) N170Y probably damaging Het
Or5w8 T A 2: 87,687,858 (GRCm39) L113Q probably damaging Het
Osmr A G 15: 6,846,061 (GRCm39) probably null Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Sacs T A 14: 61,450,492 (GRCm39) Y4179* probably null Het
Septin11 T C 5: 93,309,100 (GRCm39) V203A probably damaging Het
Skint9 T A 4: 112,248,910 (GRCm39) T173S probably benign Het
Slain1 A T 14: 103,925,541 (GRCm39) R296S probably damaging Het
Slc36a3 T A 11: 55,037,592 (GRCm39) *93C probably null Het
Sp110 G A 1: 85,519,481 (GRCm39) P116S probably benign Het
Srl T C 16: 4,314,646 (GRCm39) Y332C probably benign Het
Ubtf G A 11: 102,205,000 (GRCm39) H95Y probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Ybx1 C T 4: 119,139,627 (GRCm39) V123I probably damaging Het
Zfp944 A T 17: 22,558,211 (GRCm39) H345Q 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
R6387:Zfp993 UTSW 4 146,741,975 (GRCm39) missense probably damaging 0.97
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'- AGTAATTCATGTCACCTCTAATTGCCC -3'
(R):5'- CTACATTTGTAAGGGTTCACTCCAG -3'

Sequencing Primer
(F):5'- CAGAAAATCATTGCATATGTGGAAAG -3'
(R):5'- AGGGTTCACTCCAGTATTATTTCG -3'
Posted On 2016-05-10