Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02206:Defb23'

284466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb23

Ensembl Gene

ENSMUSG00000074681

Gene Name

defensin beta 23

Synonyms

EG629114

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02206

Quality Score

Status

Chromosome

Chromosomal Location

152300975-152306540 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 152306455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 20 (E20*)

Ref Sequence

ENSEMBL: ENSMUSP00000096812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099206]

AlphaFold

Q30KP0

Predicted Effect

probably null
Transcript: ENSMUST00000099206
AA Change: E20*

SMART Domains

Protein: ENSMUSP00000096812
Gene: ENSMUSG00000074681
AA Change: E20*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Defensin_beta_2	26	54	6.8e-8	PFAM
low complexity region	130	137	N/A	INTRINSIC
low complexity region	157	166	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121538

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,151,573 (GRCm39)	K824*	probably null	Het
Acot12	A	G	13: 91,908,106 (GRCm39)	D96G	probably damaging	Het
Acvr2b	C	T	9: 119,257,064 (GRCm39)	Q98*	probably null	Het
Aldh8a1	T	C	10: 21,271,474 (GRCm39)	V400A	probably benign	Het
Aox1	C	A	1: 58,104,499 (GRCm39)	H559N	probably benign	Het
Arhgef18	T	A	8: 3,495,034 (GRCm39)	I431N	probably benign	Het
Atad5	A	G	11: 79,985,009 (GRCm39)	D32G	probably damaging	Het
Cgas	T	C	9: 78,350,362 (GRCm39)		probably null	Het
Cmtm8	T	C	9: 114,672,967 (GRCm39)	H10R	probably benign	Het
Cnn1	T	G	9: 22,015,674 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dennd2a	A	T	6: 39,500,383 (GRCm39)	S61T	probably damaging	Het
Fam13a	A	T	6: 58,964,204 (GRCm39)	I76K	probably benign	Het
Fgd5	A	G	6: 91,964,239 (GRCm39)		probably benign	Het
Flt4	A	T	11: 49,521,217 (GRCm39)	R409W	probably damaging	Het
Gramd1b	T	C	9: 40,211,328 (GRCm39)	T652A	probably benign	Het
Grik1	C	T	16: 87,732,808 (GRCm39)	G703D	probably damaging	Het
Impg2	A	G	16: 56,079,960 (GRCm39)	E479G	possibly damaging	Het
Itpr1	A	G	6: 108,526,781 (GRCm39)	N2743S	probably damaging	Het
Klc1	A	G	12: 111,744,550 (GRCm39)		probably benign	Het
Ndufa9	G	A	6: 126,821,366 (GRCm39)	R75*	probably null	Het
Neurl4	A	G	11: 69,801,166 (GRCm39)	N1181S	probably damaging	Het
Or5an9	T	C	19: 12,187,824 (GRCm39)	I298T	probably damaging	Het
Phf1	A	G	17: 27,155,843 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,376,245 (GRCm39)	I969T	probably benign	Het
Pprc1	G	A	19: 46,060,190 (GRCm39)	R1538Q	probably damaging	Het
Rasd1	C	T	11: 59,854,778 (GRCm39)	G234D	possibly damaging	Het
Rnf152	T	C	1: 105,212,549 (GRCm39)	T3A	probably benign	Het
Rrh	C	T	3: 129,605,346 (GRCm39)	V115I	probably benign	Het
Rundc3a	G	T	11: 102,290,460 (GRCm39)	E217*	probably null	Het
Sae1	A	T	7: 16,064,581 (GRCm39)	V306E	possibly damaging	Het
Serpinb7	T	C	1: 107,363,102 (GRCm39)	S89P	possibly damaging	Het
Serpinb9h	A	G	13: 33,588,182 (GRCm39)	T256A	probably damaging	Het
Sgo2b	T	A	8: 64,394,118 (GRCm39)	T74S	possibly damaging	Het
Slc5a7	T	C	17: 54,604,022 (GRCm39)	D48G	probably damaging	Het
Stn1	T	C	19: 47,504,612 (GRCm39)	M177V	possibly damaging	Het
Tgm1	T	C	14: 55,942,392 (GRCm39)	E653G	possibly damaging	Het
Thsd4	T	C	9: 60,301,398 (GRCm39)	K299R	probably benign	Het
Ttc22	A	G	4: 106,493,186 (GRCm39)	T278A	probably damaging	Het
Ubl4b	G	T	3: 107,462,141 (GRCm39)	Q40K	possibly damaging	Het
Zfp677	A	G	17: 21,613,499 (GRCm39)	D31G	probably damaging	Het

Other mutations in Defb23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01837:Defb23	APN	2	152,301,294 (GRCm39)	missense	probably benign	0.12
R3034:Defb23	UTSW	2	152,301,189 (GRCm39)	missense	possibly damaging	0.72
R5705:Defb23	UTSW	2	152,301,204 (GRCm39)	missense	probably benign	0.03
R9135:Defb23	UTSW	2	152,301,422 (GRCm39)	missense	probably benign	0.01
R9731:Defb23	UTSW	2	152,301,333 (GRCm39)	missense	probably benign	0.26

Posted On

2015-04-16