Incidental Mutation 'R5916:Bambi'
ID 461368
Institutional Source Beutler Lab
Gene Symbol Bambi
Ensembl Gene ENSMUSG00000024232
Gene Name BMP and activin membrane-bound inhibitor
MMRRC Submission 044113-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5916 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 3507957-3516404 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3511463 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 95 (T95A)
Ref Sequence ENSEMBL: ENSMUSP00000025075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025075]
AlphaFold Q9D0L6
Predicted Effect probably benign
Transcript: ENSMUST00000025075
AA Change: T95A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025075
Gene: ENSMUSG00000024232
AA Change: T95A

Pfam:BAMBI 4 111 2.4e-66 PFAM
transmembrane domain 149 171 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.2%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a null allele weigh 9% to 10% less than wild-type female mice. Male mice are unaffected. Mice homozygous for one knock-out allele exhibit increased chemical, thermal, and mechanical nociception and decreased nerve injury-induced allodynia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,622,980 (GRCm38) N269I possibly damaging Het
Abcc1 G T 16: 14,465,142 (GRCm38) V1161F possibly damaging Het
Adam3 A T 8: 24,684,539 (GRCm38) probably null Het
Agt A T 8: 124,563,858 (GRCm38) S237T possibly damaging Het
Ano3 A T 2: 110,681,836 (GRCm38) F674L probably benign Het
Asb2 G T 12: 103,323,876 (GRCm38) A504E probably damaging Het
Atp13a1 T A 8: 69,807,098 (GRCm38) I1113N probably damaging Het
Atxn7l2 T C 3: 108,205,662 (GRCm38) probably null Het
Cfap210 A T 2: 69,789,462 (GRCm38) M1K probably null Het
Clrn1 T C 3: 58,846,362 (GRCm38) T193A probably benign Het
Colgalt2 T A 1: 152,504,122 (GRCm38) D437E probably damaging Het
Dchs1 C A 7: 105,759,166 (GRCm38) A1820S probably damaging Het
Dnah12 T A 14: 26,706,918 (GRCm38) I233N possibly damaging Het
Dsc3 T C 18: 19,987,020 (GRCm38) N194D probably damaging Het
Dync2h1 A G 9: 7,102,309 (GRCm38) probably null Het
Erich3 A T 3: 154,695,823 (GRCm38) R36S probably damaging Het
Fam243 T A 16: 92,320,671 (GRCm38) E243V probably damaging Het
Fmnl3 A T 15: 99,321,828 (GRCm38) C680S probably damaging Het
Focad T C 4: 88,357,541 (GRCm38) L1129P unknown Het
Fzd3 G A 14: 65,202,729 (GRCm38) T664I probably benign Het
Glb1l3 T C 9: 26,854,736 (GRCm38) I129V probably benign Het
Heatr1 T C 13: 12,434,471 (GRCm38) F1950S probably damaging Het
Herc6 G A 6: 57,646,203 (GRCm38) G597E probably benign Het
Hmcn2 T A 2: 31,396,139 (GRCm38) V2101D probably damaging Het
Il17re T A 6: 113,470,123 (GRCm38) C612S probably damaging Het
Il1f9 T G 2: 24,192,794 (GRCm38) *194E probably null Het
Junb T C 8: 84,977,876 (GRCm38) Y185C probably benign Het
Lrriq1 G A 10: 103,221,382 (GRCm38) Q186* probably null Het
Lrrn2 T A 1: 132,937,800 (GRCm38) V201E probably damaging Het
Ly6l A T 15: 75,451,178 (GRCm38) T68S probably benign Het
Marchf1 G T 8: 66,387,111 (GRCm38) R182L possibly damaging Het
Megf6 A G 4: 154,249,425 (GRCm38) probably null Het
Mga T A 2: 119,964,312 (GRCm38) S2708T probably benign Het
Mx1 T C 16: 97,451,733 (GRCm38) T396A probably benign Het
Naip5 A C 13: 100,222,701 (GRCm38) S676A probably benign Het
Npepl1 G T 2: 174,121,544 (GRCm38) W456C probably benign Het
Ntrk2 A G 13: 58,808,729 (GRCm38) M1V probably null Het
Nufip1 T C 14: 76,134,900 (GRCm38) *485Q probably null Het
Ocln T G 13: 100,506,179 (GRCm38) D216A possibly damaging Het
Or10x1 A T 1: 174,369,132 (GRCm38) T72S probably damaging Het
Or1o11 C T 17: 37,445,679 (GRCm38) L53F probably benign Het
Or4f57 A G 2: 111,960,830 (GRCm38) M81T probably damaging Het
Or55b4 G A 7: 102,484,379 (GRCm38) S247F probably damaging Het
Ptprq A T 10: 107,523,513 (GRCm38) M2243K probably damaging Het
Rad51b C T 12: 79,325,082 (GRCm38) Q190* probably null Het
Resf1 C T 6: 149,326,578 (GRCm38) T374I probably damaging Het
Rfx8 T C 1: 39,688,619 (GRCm38) Y182C probably benign Het
Rpgrip1l C A 8: 91,252,913 (GRCm38) R967L possibly damaging Het
Scube2 A G 7: 109,831,724 (GRCm38) Y423H possibly damaging Het
Sipa1l2 A T 8: 125,468,573 (GRCm38) Y809N probably damaging Het
Slc35f1 C A 10: 52,933,221 (GRCm38) Y101* probably null Het
Tbc1d22a A G 15: 86,214,608 (GRCm38) K12E possibly damaging Het
Tent2 T C 13: 93,175,547 (GRCm38) D215G probably damaging Het
Tmcc2 C T 1: 132,357,691 (GRCm38) V646M probably damaging Het
Tpp1 A T 7: 105,749,380 (GRCm38) M243K probably damaging Het
Trappc12 A G 12: 28,691,514 (GRCm38) L732P probably damaging Het
U2af2 A T 7: 5,079,180 (GRCm38) probably null Het
Utrn T A 10: 12,665,051 (GRCm38) N1877Y probably damaging Het
Vsir C T 10: 60,358,037 (GRCm38) T93I probably damaging Het
Zkscan5 T A 5: 145,205,302 (GRCm38) M3K possibly damaging Het
Zscan29 G T 2: 121,164,037 (GRCm38) T489N probably damaging Het
Other mutations in Bambi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Bambi APN 18 3,512,071 (GRCm38) missense probably damaging 1.00
IGL01909:Bambi APN 18 3,508,229 (GRCm38) missense possibly damaging 0.85
R5972:Bambi UTSW 18 3,512,354 (GRCm38) missense probably damaging 1.00
R6379:Bambi UTSW 18 3,512,198 (GRCm38) missense probably damaging 1.00
R7872:Bambi UTSW 18 3,511,406 (GRCm38) missense probably benign 0.03
R8762:Bambi UTSW 18 3,511,277 (GRCm38) missense probably damaging 1.00
R9787:Bambi UTSW 18 3,511,515 (GRCm38) missense possibly damaging 0.85
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-02-28