Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01686:Defb21'

103960

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb21

Ensembl Gene

ENSMUSG00000056544

Gene Name

defensin beta 21

Synonyms

4930525K10Rik, LOC228782

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL01686

Quality Score

Status

Chromosome

Chromosomal Location

152414664-152416864 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 152416821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000059585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053180] [ENSMUST00000070722]

AlphaFold

Q8C5Z4

Predicted Effect

probably benign
Transcript: ENSMUST00000053180

SMART Domains

Protein: ENSMUSP00000059585
Gene: ENSMUSG00000050645

Domain	Start	End	E-Value	Type
Pfam:Defensin_big	2	60	3.4e-9	PFAM
Pfam:Defensin_beta_2	26	55	5.1e-10	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000070722
AA Change: A99E

SMART Domains

Protein: ENSMUSP00000065102
Gene: ENSMUSG00000056544
AA Change: A99E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Defensin_beta_2	33	62	1.4e-9	PFAM
low complexity region	76	86	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,548,801 (GRCm39)	V1316A	possibly damaging	Het
Ada	T	G	2: 163,572,236 (GRCm39)	K254N	probably benign	Het
Adamts17	A	G	7: 66,490,037 (GRCm39)	R40G	probably benign	Het
Akr1d1	C	T	6: 37,507,178 (GRCm39)		probably benign	Het
Aldh1l1	T	A	6: 90,536,215 (GRCm39)		probably benign	Het
Bbox1	T	A	2: 110,095,831 (GRCm39)	I378F	probably benign	Het
BC028528	T	C	3: 95,796,212 (GRCm39)	N50S	probably damaging	Het
Casp8ap2	T	A	4: 32,641,294 (GRCm39)	S783T	possibly damaging	Het
Cmpk2	C	T	12: 26,527,177 (GRCm39)	R389W	probably damaging	Het
Cplx1	C	T	5: 108,696,393 (GRCm39)		probably null	Het
Crim1	T	C	17: 78,651,863 (GRCm39)	L529P	probably benign	Het
Ctps1	A	G	4: 120,411,183 (GRCm39)	S278P	probably benign	Het
Ecm1	T	A	3: 95,643,376 (GRCm39)	N308I	probably benign	Het
Flg2	T	C	3: 93,109,591 (GRCm39)	S540P	unknown	Het
Gabrp	G	T	11: 33,502,826 (GRCm39)	S346*	probably null	Het
Gli2	C	A	1: 118,776,165 (GRCm39)	C419F	probably damaging	Het
Grid2	T	A	6: 64,297,180 (GRCm39)	F514L	probably benign	Het
Hormad1	T	G	3: 95,485,580 (GRCm39)	M256R	probably benign	Het
Itsn2	T	G	12: 4,686,693 (GRCm39)		probably benign	Het
Klhl38	A	T	15: 58,186,707 (GRCm39)	D7E	probably benign	Het
Map3k1	G	A	13: 111,891,196 (GRCm39)	T1248I	possibly damaging	Het
Mki67	A	T	7: 135,309,542 (GRCm39)	V303E	probably benign	Het
Mterf4	A	T	1: 93,232,443 (GRCm39)	L136*	probably null	Het
Mtmr14	A	G	6: 113,217,391 (GRCm39)	D61G	possibly damaging	Het
Nf2	A	T	11: 4,768,613 (GRCm39)	D85E	probably benign	Het
Nmnat2	G	T	1: 152,952,743 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,497 (GRCm39)	D476E	probably benign	Het
Or14c45	T	C	7: 86,175,986 (GRCm39)	V7A	probably benign	Het
Or8b53	T	A	9: 38,667,550 (GRCm39)	C189S	probably damaging	Het
Pdia6	T	C	12: 17,333,958 (GRCm39)		probably benign	Het
Prrg1	G	A	X: 77,527,388 (GRCm39)	A47V	probably damaging	Het
Rgs22	A	T	15: 36,103,981 (GRCm39)	I160K	probably benign	Het
Sardh	T	C	2: 27,079,625 (GRCm39)	Y889C	probably damaging	Het
Syne2	C	A	12: 75,956,110 (GRCm39)	D605E	probably benign	Het

Other mutations in Defb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Defb21	APN	2	152,416,712 (GRCm39)	missense	probably benign	0.33
IGL00795:Defb21	APN	2	152,416,665 (GRCm39)	missense	probably benign	0.00
IGL01301:Defb21	APN	2	152,416,671 (GRCm39)	missense	possibly damaging	0.85
ANU18:Defb21	UTSW	2	152,416,671 (GRCm39)	missense	possibly damaging	0.85
R2305:Defb21	UTSW	2	152,416,791 (GRCm39)	missense	possibly damaging	0.96
R2438:Defb21	UTSW	2	152,416,695 (GRCm39)	missense	possibly damaging	0.71
R6805:Defb21	UTSW	2	152,416,789 (GRCm39)	missense	probably benign	0.01
R8924:Defb21	UTSW	2	152,416,704 (GRCm39)	missense	possibly damaging	0.51
X0063:Defb21	UTSW	2	152,415,752 (GRCm39)	unclassified	probably benign
Z1176:Defb21	UTSW	2	152,415,753 (GRCm39)	missense	unknown

Posted On

2014-01-21