Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01671:Defb45'

103490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb45

Ensembl Gene

ENSMUSG00000062124

Gene Name

defensin beta 45

Synonyms

OTTMUSG00000015859

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01671

Quality Score

Status

Chromosome

Chromosomal Location

152435111-152438405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152435331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 26 (K26E)

Ref Sequence

ENSEMBL: ENSMUSP00000105460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109834]

AlphaFold

Q3V490

Predicted Effect

probably benign
Transcript: ENSMUST00000109834
AA Change: K26E

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105460
Gene: ENSMUSG00000062124
AA Change: K26E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Defensin_beta_2	23	52	2.9e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131096

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc7	C	T	5: 107,131,111 (GRCm39)	P529S	probably damaging	Het
Dnajb8	T	C	6: 88,199,902 (GRCm39)	L146S	probably benign	Het
Egln1	T	C	8: 125,637,454 (GRCm39)	D399G	probably benign	Het
Ephb1	A	T	9: 101,873,986 (GRCm39)	C563S	probably damaging	Het
Gad2	T	A	2: 22,513,711 (GRCm39)	Y49*	probably null	Het
Gga2	A	G	7: 121,594,079 (GRCm39)	S470P	probably benign	Het
Gm21276	G	T	7: 38,464,151 (GRCm39)		noncoding transcript	Het
Gm3115	G	A	14: 4,084,189 (GRCm38)	C9Y	probably benign	Het
H2-M1	T	C	17: 36,981,330 (GRCm39)	E235G	probably damaging	Het
Hjv	T	C	3: 96,435,807 (GRCm39)	V355A	probably damaging	Het
Hsp90b1	C	T	10: 86,540,189 (GRCm39)	G41S	probably benign	Het
Mccc1	T	C	3: 36,018,609 (GRCm39)	D575G	probably benign	Het
Metap2	T	C	10: 93,707,340 (GRCm39)		probably benign	Het
Myh7	T	C	14: 55,210,381 (GRCm39)	T1775A	probably damaging	Het
Or2aj5	A	G	16: 19,424,671 (GRCm39)	I249T	probably benign	Het
Or5b3	T	A	19: 13,388,255 (GRCm39)	F107L	probably benign	Het
Or8g21	A	G	9: 38,906,149 (GRCm39)	V194A	probably benign	Het
Pak5	T	C	2: 135,958,293 (GRCm39)	D265G	possibly damaging	Het
Pex1	A	G	5: 3,674,088 (GRCm39)	I793V	probably benign	Het
Prkdc	A	G	16: 15,485,609 (GRCm39)	I479V	possibly damaging	Het
Rhcg	A	C	7: 79,248,299 (GRCm39)	I435S	probably benign	Het
Slc9c1	A	T	16: 45,380,678 (GRCm39)	T535S	probably benign	Het
Stab2	T	C	10: 86,805,141 (GRCm39)	D279G	possibly damaging	Het
Wdr83	T	C	8: 85,802,448 (GRCm39)		probably benign	Het

Other mutations in Defb45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4498001:Defb45	UTSW	2	152,438,394 (GRCm39)	start gained	probably benign
R5888:Defb45	UTSW	2	152,435,154 (GRCm39)	utr 3 prime	probably benign

Posted On

2014-01-21