Incidental Mutation 'R3971:Zfp993'
ID 310962
Institutional Source Beutler Lab
Gene Symbol Zfp993
Ensembl Gene ENSMUSG00000063245
Gene Name zinc finger protein 993
Synonyms Gm13248
MMRRC Submission 040839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R3971 (G1)
Quality Score 199
Status Validated
Chromosome 4
Chromosomal Location 146695418-146742617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146742089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 138 (T138A)
Ref Sequence ENSEMBL: ENSMUSP00000121301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070932] [ENSMUST00000130825]
AlphaFold E9Q4Q0
Predicted Effect probably benign
Transcript: ENSMUST00000070932
SMART Domains Protein: ENSMUSP00000065923
Gene: ENSMUSG00000063245

DomainStartEndE-ValueType
KRAB 13 74 5.08e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130825
AA Change: T138A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000121301
Gene: ENSMUSG00000063245
AA Change: T138A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat C T 8: 60,971,615 (GRCm39) P147L probably damaging Het
Apbb1ip T A 2: 22,713,506 (GRCm39) D120E unknown Het
Atp10b A G 11: 43,107,339 (GRCm39) D791G probably damaging Het
Aunip A G 4: 134,250,780 (GRCm39) K242E possibly damaging Het
Ccdc80 A G 16: 44,916,183 (GRCm39) E313G probably benign Het
Cd72 C T 4: 43,449,491 (GRCm39) R275H probably damaging Het
Chrnb1 A G 11: 69,683,742 (GRCm39) probably benign Het
Coro2b C T 9: 62,336,522 (GRCm39) A251T possibly damaging Het
Cspg4b A G 13: 113,453,660 (GRCm39) E41G probably damaging Het
Ddr2 A G 1: 169,815,986 (GRCm39) F574L probably damaging Het
Dock1 G A 7: 134,348,637 (GRCm39) D284N probably damaging Het
Dync1h1 A G 12: 110,632,399 (GRCm39) H4506R probably benign Het
Fam174b T C 7: 73,416,348 (GRCm39) V147A probably damaging Het
Glp2r T A 11: 67,637,641 (GRCm39) D130V possibly damaging Het
Gm18856 A T 13: 14,139,433 (GRCm39) probably benign Het
Gm7247 A G 14: 51,602,841 (GRCm39) Y59C probably damaging Het
Hecw1 T C 13: 14,411,514 (GRCm39) D1062G probably damaging Het
Ifit2 A G 19: 34,551,441 (GRCm39) E327G probably benign Het
Ighv1-37 A T 12: 114,860,079 (GRCm39) S43T probably damaging Het
Man2b1 A G 8: 85,812,020 (GRCm39) N158S probably damaging Het
Mcoln1 T A 8: 3,557,408 (GRCm39) I138K probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mrc2 G A 11: 105,218,857 (GRCm39) D193N possibly damaging Het
Myo5b C T 18: 74,873,598 (GRCm39) L1501F probably damaging Het
Nckap1l A G 15: 103,370,987 (GRCm39) K189E probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or6c69 T C 10: 129,747,742 (GRCm39) N135S probably benign Het
Otop1 A G 5: 38,457,533 (GRCm39) I431V probably benign Het
Psma8 A G 18: 14,890,444 (GRCm39) K195E possibly damaging Het
Rbm25 A G 12: 83,721,982 (GRCm39) T723A probably benign Het
Sema3b A G 9: 107,477,567 (GRCm39) S485P probably benign Het
Slc12a2 T A 18: 58,063,268 (GRCm39) L916Q possibly damaging Het
Spata31d1a T A 13: 59,849,971 (GRCm39) D719V possibly damaging Het
Synj1 A G 16: 90,788,491 (GRCm39) S86P probably damaging Het
Tmem130 T A 5: 144,692,131 (GRCm39) H91L probably benign Het
Tsc2 T C 17: 24,842,562 (GRCm39) D288G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vps35l T C 7: 118,433,022 (GRCm39) I585T probably damaging Het
Wac T C 18: 7,916,175 (GRCm39) V303A probably damaging Het
Zfhx2 A G 14: 55,311,932 (GRCm39) V254A probably benign Het
Other mutations in Zfp993
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02490:Zfp993 APN 4 146,742,074 (GRCm39) missense probably damaging 0.99
R4986:Zfp993 UTSW 4 146,742,014 (GRCm39) missense probably benign 0.12
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'- GAGAAGTCTTCTAAATGGGACAAAC -3'
(R):5'- AGATCGATCTGATGGGTAAAGC -3'

Sequencing Primer
(F):5'- CTTAGCAATGTGATACTTGAAGCCCC -3'
(R):5'- CTGATGGGTAAAGCATTTGTCAC -3'
Posted On 2015-04-29