Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03101:Defb28'

418736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb28

Ensembl Gene

ENSMUSG00000074679

Gene Name

defensin beta 28

Synonyms

OTTMUSG00000015852

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL03101

Quality Score

Status

Chromosome

Chromosomal Location

152360175-152363367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152362047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 69 (E69V)

Ref Sequence

ENSEMBL: ENSMUSP00000112697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121912]

AlphaFold

Q3V2L0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121912
AA Change: E69V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112697
Gene: ENSMUSG00000074679
AA Change: E69V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Defensin_beta_2	37	66	1e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA474408	A	T	7: 109,660,177 (GRCm39)		probably benign	Het
Abcc1	T	A	16: 14,207,732 (GRCm39)	V23D	probably damaging	Het
Adam8	G	T	7: 139,568,456 (GRCm39)	N260K	possibly damaging	Het
Ap3b1	A	T	13: 94,591,906 (GRCm39)	I457L	probably benign	Het
Apaf1	T	C	10: 90,867,421 (GRCm39)	N808S	possibly damaging	Het
Arhgef26	A	G	3: 62,327,082 (GRCm39)	T532A	possibly damaging	Het
Cfap65	G	T	1: 74,967,592 (GRCm39)	T162N	possibly damaging	Het
Clec12b	A	G	6: 129,356,480 (GRCm39)		probably null	Het
Creb3	T	C	4: 43,563,081 (GRCm39)	V60A	probably benign	Het
Cyp11b1	A	G	15: 74,707,703 (GRCm39)	F469L	probably benign	Het
Etnppl	T	C	3: 130,415,967 (GRCm39)	L118S	probably damaging	Het
Fsip1	T	C	2: 118,072,144 (GRCm39)	Y213C	probably damaging	Het
Glb1l2	A	G	9: 26,676,421 (GRCm39)	W480R	probably damaging	Het
Herc1	A	T	9: 66,395,279 (GRCm39)	M4205L	probably benign	Het
Kif5a	A	T	10: 127,071,478 (GRCm39)		probably benign	Het
Lmbrd2	C	T	15: 9,186,695 (GRCm39)	R557C	probably damaging	Het
Map4k3	A	G	17: 80,963,284 (GRCm39)		probably null	Het
Npc1	A	G	18: 12,331,596 (GRCm39)	I858T	probably benign	Het
Or7e173	T	C	9: 19,938,725 (GRCm39)	T170A	probably benign	Het
Pecam1	A	G	11: 106,588,177 (GRCm39)	V92A	probably damaging	Het
Rbm43	A	T	2: 51,816,757 (GRCm39)	I70N	probably benign	Het
Rps6kb1	T	C	11: 86,393,708 (GRCm39)	Y474C	probably benign	Het
Slco2a1	G	A	9: 102,954,205 (GRCm39)	G459R	possibly damaging	Het
Snca	T	A	6: 60,804,595 (GRCm39)		probably benign	Het
Spata31f1e	T	C	4: 42,793,424 (GRCm39)	D236G	possibly damaging	Het
Stap2	T	A	17: 56,309,029 (GRCm39)	I113F	probably damaging	Het
Tas2r140	T	C	6: 40,468,764 (GRCm39)	M198T	probably benign	Het
Trim9	T	C	12: 70,393,428 (GRCm39)	E172G	probably damaging	Het
Ttll7	T	C	3: 146,602,445 (GRCm39)	V81A	possibly damaging	Het
Vmn2r103	A	G	17: 19,993,782 (GRCm39)	Y53C	probably damaging	Het
Vmn2r22	C	A	6: 123,614,295 (GRCm39)	A432S	probably benign	Het
Zfp943	T	C	17: 22,211,156 (GRCm39)	S81P	probably damaging	Het

Other mutations in Defb28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2070:Defb28	UTSW	2	152,362,064 (GRCm39)	missense	probably benign	0.18
R2679:Defb28	UTSW	2	152,360,202 (GRCm39)	missense	possibly damaging	0.73
R6580:Defb28	UTSW	2	152,360,215 (GRCm39)	missense	possibly damaging	0.53
R7319:Defb28	UTSW	2	152,361,974 (GRCm39)	missense	possibly damaging	0.71
R7506:Defb28	UTSW	2	152,360,221 (GRCm39)	missense	possibly damaging	0.53

Posted On

2016-08-02