Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01644:Defb7'

102601

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb7

Ensembl Gene

ENSMUSG00000037790

Gene Name

defensin beta 7

Synonyms

Defb15, mBD7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL01644

Quality Score

Status

Chromosome

Chromosomal Location

19545113-19547791 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 19547717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047851]

AlphaFold

Q91V70

PDB Structure

SOLUTION STRUCTURE OF THE MOUSE DEFENSIN MBD-7 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000047851

SMART Domains

Protein: ENSMUSP00000045523
Gene: ENSMUSG00000037790

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Defensin_beta	27	60	4.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184215

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	A	G	7: 100,946,424 (GRCm39)	*82R	probably null	Het
Crb1	T	A	1: 139,165,368 (GRCm39)	R919*	probably null	Het
Csf1	T	C	3: 107,661,158 (GRCm39)	T120A	possibly damaging	Het
Defa29	A	T	8: 21,816,137 (GRCm39)	C77S	possibly damaging	Het
Ece2	T	C	16: 20,436,616 (GRCm39)	V146A	possibly damaging	Het
Efcab6	T	A	15: 83,917,273 (GRCm39)	S96C	probably damaging	Het
Gm7729	T	C	18: 27,731,872 (GRCm39)		noncoding transcript	Het
Hapln2	G	T	3: 87,929,944 (GRCm39)	R311S	probably damaging	Het
Impg2	C	T	16: 56,080,233 (GRCm39)	P679L	probably benign	Het
Kansl1l	A	G	1: 66,840,475 (GRCm39)	I275T	probably benign	Het
Med29	A	G	7: 28,090,272 (GRCm39)	F108L	probably damaging	Het
Nrxn1	C	T	17: 90,928,301 (GRCm39)	C789Y	possibly damaging	Het
Or10w1	A	T	19: 13,632,768 (GRCm39)		probably benign	Het
Or4c123	T	C	2: 89,126,976 (GRCm39)	I213V	probably benign	Het
Palld	T	C	8: 62,330,512 (GRCm39)	K122E	probably benign	Het
Ppl	A	T	16: 4,909,719 (GRCm39)	L864H	probably damaging	Het
Ptov1	C	A	7: 44,516,926 (GRCm39)	E37*	probably null	Het
Sspo	T	C	6: 48,429,436 (GRCm39)	V482A	probably benign	Het
St7l	C	T	3: 104,826,772 (GRCm39)	R377*	probably null	Het
Ttn	G	T	2: 76,585,727 (GRCm39)	P13643T	probably damaging	Het
Vcan	T	A	13: 89,836,794 (GRCm39)	T2917S	probably benign	Het

Other mutations in Defb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Defb7	APN	8	19,547,594 (GRCm39)	missense	possibly damaging	0.92
IGL02833:Defb7	APN	8	19,545,140 (GRCm39)	missense	probably benign	0.00
IGL02892:Defb7	APN	8	19,547,678 (GRCm39)	missense	probably benign	0.04
R0112:Defb7	UTSW	8	19,545,186 (GRCm39)	splice site	probably null
R1485:Defb7	UTSW	8	19,545,110 (GRCm39)	splice site	probably null
R1558:Defb7	UTSW	8	19,547,567 (GRCm39)	missense	probably benign	0.00
R5688:Defb7	UTSW	8	19,545,167 (GRCm39)	missense	probably damaging	1.00
R8516:Defb7	UTSW	8	19,547,623 (GRCm39)	missense	possibly damaging	0.87

Posted On

2014-01-21