Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02833:Defb7'

361510

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 #

IGL02833

Quality Score

Status

Chromosome

Chromosomal Location

19545113-19547791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19545140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 6 (V6A)

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
AA Change: V6A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000045523
Gene: ENSMUSG00000037790
AA Change: V6A

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,289,371 (GRCm39)		probably benign	Het
Atr	A	T	9: 95,744,905 (GRCm39)	H74L	probably damaging	Het
Brca2	A	T	5: 150,465,255 (GRCm39)	H1673L	possibly damaging	Het
Brwd1	A	T	16: 95,853,771 (GRCm39)	I495K	probably damaging	Het
Cacna1s	A	T	1: 135,998,743 (GRCm39)	I213F	probably benign	Het
Cds1	T	C	5: 101,962,332 (GRCm39)	S316P	possibly damaging	Het
Ces1b	G	A	8: 93,806,038 (GRCm39)	P68S	probably damaging	Het
Cilp	A	G	9: 65,185,206 (GRCm39)	I434V	probably benign	Het
Csgalnact2	A	G	6: 118,106,229 (GRCm39)	Y30H	probably damaging	Het
Dlg2	A	T	7: 92,080,335 (GRCm39)	L841F	probably damaging	Het
Dnajc14	A	G	10: 128,642,468 (GRCm39)	N130S	possibly damaging	Het
Dock7	T	A	4: 98,833,732 (GRCm39)	D1863V	probably damaging	Het
Dsp	A	G	13: 38,376,897 (GRCm39)	R1561G	possibly damaging	Het
Fads2b	G	T	2: 85,332,551 (GRCm39)	R158S	possibly damaging	Het
Gstt4	G	T	10: 75,658,174 (GRCm39)	F28L	probably damaging	Het
Hectd1	G	T	12: 51,810,864 (GRCm39)	D1690E	probably damaging	Het
Hspg2	T	C	4: 137,282,441 (GRCm39)	S3394P	probably benign	Het
Ift25	T	C	4: 107,132,492 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,911,610 (GRCm39)	C1910S	probably damaging	Het
Jakmip2	T	C	18: 43,708,516 (GRCm39)		probably benign	Het
Katnip	A	T	7: 125,449,584 (GRCm39)	R883*	probably null	Het
Kif1b	C	T	4: 149,330,821 (GRCm39)	V612M	probably damaging	Het
Lrrd1	A	G	5: 3,900,709 (GRCm39)	E338G	probably damaging	Het
Mmp9	C	A	2: 164,791,723 (GRCm39)	D205E	probably damaging	Het
Mylk	A	T	16: 34,735,270 (GRCm39)	H750L	probably benign	Het
Naip6	A	G	13: 100,436,121 (GRCm39)	S801P	probably damaging	Het
Nlrp1b	A	T	11: 71,051,998 (GRCm39)	M980K	probably benign	Het
Or14j1	G	A	17: 38,146,831 (GRCm39)	V314I	probably benign	Het
Or2y3	T	C	17: 38,393,243 (GRCm39)	K209E	possibly damaging	Het
Or5d43	C	A	2: 88,104,776 (GRCm39)	V206F	probably benign	Het
Or6c88	A	G	10: 129,406,619 (GRCm39)	T32A	probably benign	Het
Pdk1	A	G	2: 71,727,989 (GRCm39)		probably null	Het
Pex7	A	G	10: 19,770,500 (GRCm39)	S125P	probably damaging	Het
Pigu	T	C	2: 155,187,565 (GRCm39)		probably benign	Het
Prr16	T	A	18: 51,436,164 (GRCm39)	H214Q	probably damaging	Het
Psme4	C	T	11: 30,800,715 (GRCm39)		probably benign	Het
Sf3b3	A	G	8: 111,538,609 (GRCm39)		probably null	Het
Sp4	T	C	12: 118,225,616 (GRCm39)	I583V	probably benign	Het
Spata22	A	G	11: 73,234,569 (GRCm39)	T224A	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tmem119	T	A	5: 113,933,432 (GRCm39)	Y123F	probably damaging	Het
Umps	A	T	16: 33,782,523 (GRCm39)	L133*	probably null	Het
Usp46	T	A	5: 74,177,343 (GRCm39)	T179S	probably benign	Het
Vtcn1	T	A	3: 100,795,701 (GRCm39)	Y223N	probably damaging	Het
Wiz	A	G	17: 32,576,853 (GRCm39)	M567T	probably damaging	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
IGL01644:Defb7	APN	8	19,547,717 (GRCm39)	utr 3 prime	probably benign
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

2015-12-18