Mutagenetix > Incidental Mutation

Incidental Mutation 'R6379:Bambi'

515238

Institutional Source

Beutler Lab

Gene Symbol

Bambi

Ensembl Gene

ENSMUSG00000024232

Gene Name

BMP and activin membrane-bound inhibitor

Synonyms

2610003H06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3507923-3516404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3512198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 194 (L194Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025075]

AlphaFold

Q9D0L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025075
AA Change: L194Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025075
Gene: ENSMUSG00000024232
AA Change: L194Q

Domain	Start	End	E-Value	Type
Pfam:BAMBI	4	111	2.4e-66	PFAM
transmembrane domain	149	171	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	T	2: 152,269,912 (GRCm39)	R21S	probably benign	Het
Aadacl4fm1	G	T	4: 144,248,912 (GRCm39)	R93L	probably benign	Het
Adcy5	A	T	16: 35,114,369 (GRCm39)	T991S	probably benign	Het
Aldh18a1	A	T	19: 40,566,214 (GRCm39)		probably null	Het
Anxa1	T	C	19: 20,351,079 (GRCm39)	*347W	probably null	Het
Aopep	T	A	13: 63,216,057 (GRCm39)	I443K	probably damaging	Het
Arid1a	G	T	4: 133,408,238 (GRCm39)	L2090I	unknown	Het
Armh3	A	T	19: 45,910,136 (GRCm39)	V472D	possibly damaging	Het
Card9	A	G	2: 26,246,789 (GRCm39)	V353A	probably damaging	Het
Ccdc198	T	A	14: 49,481,191 (GRCm39)	I99F	probably benign	Het
Ccdc60	C	A	5: 116,269,082 (GRCm39)		probably null	Het
Ccdc71	A	G	9: 108,340,811 (GRCm39)	K208R	possibly damaging	Het
Cdh12	T	C	15: 21,492,743 (GRCm39)	V254A	probably benign	Het
Cep295nl	T	A	11: 118,224,556 (GRCm39)	N96I	probably benign	Het
Ces1f	C	A	8: 94,006,279 (GRCm39)	C17F	probably benign	Het
Clic6	C	A	16: 92,336,423 (GRCm39)	T577K	probably damaging	Het
Col28a1	T	C	6: 8,012,996 (GRCm39)	M1019V	probably benign	Het
Ctnnd2	C	A	15: 30,634,844 (GRCm39)	S73Y	probably damaging	Het
Daam1	C	T	12: 71,998,712 (GRCm39)	L556F	unknown	Het
Dchs2	A	C	3: 83,262,453 (GRCm39)	N2907T	probably damaging	Het
Dlgap3	A	C	4: 127,128,767 (GRCm39)	E829A	probably damaging	Het
Dpysl5	A	T	5: 30,935,317 (GRCm39)		probably null	Het
Draxin	C	A	4: 148,192,400 (GRCm39)	C304F	probably damaging	Het
Eif3j1	A	G	2: 121,878,005 (GRCm39)	D131G	possibly damaging	Het
Fads1	T	C	19: 10,160,551 (GRCm39)	Y46H	probably damaging	Het
Fcgbpl1	A	C	7: 27,857,017 (GRCm39)	T2122P	probably damaging	Het
Figla	T	A	6: 85,995,562 (GRCm39)	I72K	probably damaging	Het
Fnbp4	T	A	2: 90,581,468 (GRCm39)	S174T	probably benign	Het
Foxn3	C	A	12: 99,162,537 (GRCm39)	A455S	probably benign	Het
Fyn	C	T	10: 39,331,070 (GRCm39)		probably benign	Het
Gtse1	G	A	15: 85,748,425 (GRCm39)	G277S	probably benign	Het
H2bc15	T	A	13: 21,938,588 (GRCm39)	V99E	probably benign	Het
Icam4	C	A	9: 20,941,078 (GRCm39)	A110E	probably damaging	Het
Itih3	G	A	14: 30,631,681 (GRCm39)	S802L	probably damaging	Het
Kcng4	T	A	8: 120,360,359 (GRCm39)	R6*	probably null	Het
Kmt2c	A	T	5: 25,564,339 (GRCm39)	C977S	probably damaging	Het
Lrrc8d	A	T	5: 105,960,675 (GRCm39)	M362L	probably benign	Het
Mtus2	T	C	5: 148,014,008 (GRCm39)	I267T	probably benign	Het
Nab1	A	G	1: 52,520,156 (GRCm39)	V275A	probably damaging	Het
Nfasc	G	A	1: 132,498,280 (GRCm39)	Q1308*	probably null	Het
Nop9	T	C	14: 55,983,249 (GRCm39)	S7P	possibly damaging	Het
Npbwr1	G	T	1: 5,987,438 (GRCm39)	N25K	probably benign	Het
Nptx2	T	C	5: 144,490,252 (GRCm39)	L227P	probably damaging	Het
Nrg1	T	C	8: 33,373,749 (GRCm39)		probably benign	Het
Nup160	T	A	2: 90,532,753 (GRCm39)	C571*	probably null	Het
Nynrin	T	C	14: 56,107,848 (GRCm39)	L985P	probably damaging	Het
Obsl1	A	C	1: 75,479,787 (GRCm39)	L341R	probably damaging	Het
Or1r1	T	G	11: 73,875,099 (GRCm39)	S112R	probably damaging	Het
Pate7	T	A	9: 35,689,381 (GRCm39)		probably benign	Het
Phip	G	T	9: 82,795,910 (GRCm39)	N570K	probably damaging	Het
Pigx	A	T	16: 31,903,341 (GRCm39)	I240N	probably damaging	Het
Platr25	T	C	13: 62,854,051 (GRCm39)	D37G	probably damaging	Het
Ppl	A	T	16: 4,915,555 (GRCm39)	M639K	probably benign	Het
Scnn1b	T	G	7: 121,514,551 (GRCm39)	M441R	probably benign	Het
Sh3gl1	A	T	17: 56,326,143 (GRCm39)	M121K	probably damaging	Het
Slc30a4	A	T	2: 122,531,469 (GRCm39)	V132D	probably damaging	Het
Slc38a7	A	G	8: 96,575,155 (GRCm39)	S42P	probably benign	Het
Slc66a1	G	A	4: 139,027,296 (GRCm39)	L349F	probably benign	Het
Srp68	A	G	11: 116,156,227 (GRCm39)	C172R	probably damaging	Het
Suz12	A	T	11: 79,906,014 (GRCm39)	D292V	possibly damaging	Het
Sv2b	A	T	7: 74,786,048 (GRCm39)	D457E	possibly damaging	Het
Tas2r120	T	C	6: 132,634,773 (GRCm39)	V285A	probably benign	Het
Tdo2	T	A	3: 81,866,102 (GRCm39)		probably benign	Het
Them7	G	T	2: 105,115,031 (GRCm39)		probably null	Het
Tnip2	T	C	5: 34,660,979 (GRCm39)	T158A	probably damaging	Het
Tonsl	C	T	15: 76,513,942 (GRCm39)	R1209H	probably benign	Het
Trpc2	T	A	7: 101,745,298 (GRCm39)	L838*	probably null	Het
Trpm1	A	G	7: 63,848,942 (GRCm39)	I63V	probably benign	Het
Vps13d	A	T	4: 144,814,828 (GRCm39)	N90K	probably benign	Het
Ylpm1	C	T	12: 85,077,574 (GRCm39)	S1433F	probably damaging	Het
Zbtb18	A	G	1: 177,275,141 (GRCm39)	D158G	probably damaging	Het
Zfhx2	T	A	14: 55,311,795 (GRCm39)	T300S	probably benign	Het
Zscan2	T	A	7: 80,513,085 (GRCm39)	D23E	probably benign	Het

Other mutations in Bambi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Bambi	APN	18	3,512,071 (GRCm39)	missense	probably damaging	1.00
IGL01909:Bambi	APN	18	3,508,229 (GRCm39)	missense	possibly damaging	0.85
R5916:Bambi	UTSW	18	3,511,463 (GRCm39)	missense	probably benign	0.00
R5972:Bambi	UTSW	18	3,512,354 (GRCm39)	missense	probably damaging	1.00
R7872:Bambi	UTSW	18	3,511,406 (GRCm39)	missense	probably benign	0.03
R8762:Bambi	UTSW	18	3,511,277 (GRCm39)	missense	probably damaging	1.00
R9787:Bambi	UTSW	18	3,511,515 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GTATCAGCATGACAGCAGCAG -3'
(R):5'- GAATTCCAGCTTTCCATGACC -3'

Sequencing Primer
(F):5'- TGACAGCAGCAGAAACCTCATC -3'
(R):5'- CACTGTACATGCCCCAGTG -3'

Posted On

2018-05-04