Incidental Mutation 'R6794:Btg4'
ID 531671
Institutional Source Beutler Lab
Gene Symbol Btg4
Ensembl Gene ENSMUSG00000032056
Gene Name BTG anti-proliferation factor 4
Synonyms PC3B
MMRRC Submission 044907-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R6794 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 51013486-51031224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 51030651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 250 (K250N)
Ref Sequence ENSEMBL: ENSMUSP00000149181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114431] [ENSMUST00000213117] [ENSMUST00000213680] [ENSMUST00000214452]
AlphaFold O70552
Predicted Effect possibly damaging
Transcript: ENSMUST00000114431
AA Change: K250N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110074
Gene: ENSMUSG00000032056
AA Change: K250N

DomainStartEndE-ValueType
btg1 1 108 7.37e-64 SMART
low complexity region 138 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213117
Predicted Effect possibly damaging
Transcript: ENSMUST00000213680
AA Change: K250N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000214452
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agxt T C 1: 93,063,104 (GRCm39) V30A possibly damaging Het
Atf7 T C 15: 102,465,900 (GRCm39) K87E probably benign Het
Bltp3b T C 10: 89,641,624 (GRCm39) S932P probably benign Het
Cracdl A G 1: 37,676,936 (GRCm39) probably null Het
Cyc1 A G 15: 76,228,850 (GRCm39) Y132C probably damaging Het
Dcaf5 A T 12: 80,445,667 (GRCm39) D137E possibly damaging Het
Ddr2 C A 1: 169,809,667 (GRCm39) W770L probably damaging Het
Disc1 T C 8: 125,814,514 (GRCm39) V126A probably benign Het
Dock8 A G 19: 25,099,805 (GRCm39) N643D probably benign Het
Gabrg1 C T 5: 70,973,314 (GRCm39) R75H probably damaging Het
Gm14418 A T 2: 177,079,631 (GRCm39) H121Q probably damaging Het
H2-Ob T A 17: 34,460,162 (GRCm39) L20Q possibly damaging Het
Herpud1 T A 8: 95,121,398 (GRCm39) probably null Het
Ica1 T C 6: 8,653,659 (GRCm39) D326G probably benign Het
Jph3 T C 8: 122,512,124 (GRCm39) L704P probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lnpep T G 17: 17,751,421 (GRCm39) N948T probably damaging Het
Mdn1 T A 4: 32,741,893 (GRCm39) V3888D probably damaging Het
Muc5ac T C 7: 141,363,289 (GRCm39) probably benign Het
Nfkb2 T C 19: 46,296,159 (GRCm39) probably null Het
Pik3r2 T C 8: 71,223,361 (GRCm39) H380R probably benign Het
Prim1 T C 10: 127,854,018 (GRCm39) S124P probably damaging Het
Prokr1 T C 6: 87,565,675 (GRCm39) T57A possibly damaging Het
Ptpn4 T C 1: 119,671,120 (GRCm39) T213A probably damaging Het
Sapcd2 A G 2: 25,266,379 (GRCm39) S389G probably damaging Het
Scn5a T C 9: 119,364,955 (GRCm39) Q421R probably damaging Het
Serac1 A G 17: 6,101,985 (GRCm39) Y430H probably damaging Het
Shf A G 2: 122,184,321 (GRCm39) L234P probably damaging Het
Slc22a29 G T 19: 8,138,887 (GRCm39) S525Y probably benign Het
Thbs1 A G 2: 117,950,519 (GRCm39) probably null Het
Tln2 T C 9: 67,193,840 (GRCm39) D666G probably benign Het
Ubqlnl C T 7: 103,797,992 (GRCm39) E502K probably benign Het
Vmn2r118 T A 17: 55,899,348 (GRCm39) H852L possibly damaging Het
Vmn2r72 A G 7: 85,387,204 (GRCm39) F787L probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Ylpm1 A G 12: 85,043,655 (GRCm39) H131R unknown Het
Other mutations in Btg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02875:Btg4 APN 9 51,030,446 (GRCm39) missense probably benign 0.17
R1741:Btg4 UTSW 9 51,027,910 (GRCm39) missense probably benign 0.24
R1876:Btg4 UTSW 9 51,028,489 (GRCm39) missense probably damaging 1.00
R7384:Btg4 UTSW 9 51,030,413 (GRCm39) missense probably benign 0.13
R7606:Btg4 UTSW 9 51,029,307 (GRCm39) missense probably damaging 1.00
R7877:Btg4 UTSW 9 51,029,240 (GRCm39) missense probably benign 0.00
R8094:Btg4 UTSW 9 51,030,445 (GRCm39) missense probably benign 0.04
R8231:Btg4 UTSW 9 51,027,868 (GRCm39) missense possibly damaging 0.80
R9576:Btg4 UTSW 9 51,030,436 (GRCm39) missense probably damaging 0.96
R9594:Btg4 UTSW 9 51,030,560 (GRCm39) missense probably damaging 1.00
Z1176:Btg4 UTSW 9 51,030,475 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCCGTAGAAAGCATTTGGC -3'
(R):5'- TTTATCACCGGCAACATCTCTG -3'

Sequencing Primer
(F):5'- CAGATGGTCGTGGGTTCCTCC -3'
(R):5'- ACCGGCAACATCTCTGTTCTATCAC -3'
Posted On 2018-08-29