Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00235:Defb21'

2483

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: 0.057) question?

Stock #

IGL00235

Quality Score

Status

Chromosome

Chromosomal Location

152414664-152416864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152416712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 63 (V63I)

Ref Sequence

ENSEMBL: ENSMUSP00000065102 (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

probably benign
Transcript: ENSMUST00000070722
AA Change: V63I

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065102
Gene: ENSMUSG00000056544
AA Change: V63I

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	G	A	16: 35,073,583 (GRCm39)	E454K	possibly damaging	Het
Agl	T	C	3: 116,565,132 (GRCm39)	H1039R	probably benign	Het
Akap3	T	C	6: 126,842,694 (GRCm39)	F438L	probably benign	Het
Casp1	A	T	9: 5,299,872 (GRCm39)		probably benign	Het
Cnih2	G	T	19: 5,148,301 (GRCm39)		probably benign	Het
Dchs1	G	A	7: 105,407,950 (GRCm39)	R1961C	probably damaging	Het
Elovl6	T	A	3: 129,422,025 (GRCm39)	N105K	probably benign	Het
Fam83e	A	T	7: 45,376,493 (GRCm39)	E402V	probably benign	Het
Fat4	T	A	3: 39,036,398 (GRCm39)	I3350N	probably damaging	Het
Gmpr2	C	A	14: 55,913,171 (GRCm39)	F149L	probably damaging	Het
Gucy1b2	C	A	14: 62,643,694 (GRCm39)	V636F	probably damaging	Het
Hapln1	A	C	13: 89,756,261 (GRCm39)	Y355S	probably benign	Het
Hoxb13	G	T	11: 96,085,468 (GRCm39)	C67F	possibly damaging	Het
Hspa12b	T	A	2: 130,976,040 (GRCm39)	I14N	probably damaging	Het
Ighe	C	A	12: 113,235,135 (GRCm39)	V342L	unknown	Het
Ighv1-49	A	T	12: 115,019,076 (GRCm39)	S21T	possibly damaging	Het
Klhl17	A	G	4: 156,318,319 (GRCm39)	I101T	possibly damaging	Het
Lrrd1	T	G	5: 3,900,573 (GRCm39)	L293V	possibly damaging	Het
Lyrm4	T	A	13: 36,276,865 (GRCm39)	K44M	probably damaging	Het
Med15	G	T	16: 17,498,590 (GRCm39)	P101T	probably damaging	Het
Mgat4c	A	T	10: 102,224,581 (GRCm39)	H265L	probably damaging	Het
Mme	T	A	3: 63,247,465 (GRCm39)	I250N	possibly damaging	Het
Mxra8	C	A	4: 155,927,020 (GRCm39)	T318N	probably benign	Het
Nlrp9b	G	A	7: 19,757,203 (GRCm39)	V147I	probably benign	Het
Npepl1	G	T	2: 173,962,341 (GRCm39)	V336L	probably damaging	Het
Or1e23	G	A	11: 73,407,236 (GRCm39)	S263L	possibly damaging	Het
Pank2	T	C	2: 131,116,089 (GRCm39)	I169T	possibly damaging	Het
Pgap6	T	C	17: 26,336,493 (GRCm39)	S204P	probably damaging	Het
Pkhd1l1	A	T	15: 44,419,415 (GRCm39)	H2960L	probably damaging	Het
Pnpla8	A	G	12: 44,329,852 (GRCm39)	R135G	probably benign	Het
Prdm8	T	G	5: 98,331,202 (GRCm39)	V18G	probably damaging	Het
Rhox7b	G	T	X: 36,978,539 (GRCm39)	P231T	probably damaging	Het
Rnf121	A	T	7: 101,714,322 (GRCm39)		probably benign	Het
Skap1	T	C	11: 96,380,736 (GRCm39)	F45S	probably damaging	Het
Slc4a5	T	A	6: 83,262,881 (GRCm39)	L791Q	probably damaging	Het
Ssh1	T	C	5: 114,080,637 (GRCm39)	D931G	probably damaging	Het
Txndc16	T	C	14: 45,399,807 (GRCm39)	Y382C	probably damaging	Het
Uhrf2	T	C	19: 30,051,346 (GRCm39)	F307L	probably benign	Het
Zfhx2	C	A	14: 55,300,714 (GRCm39)	A2346S	probably benign	Het

Other mutations in Defb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01686:Defb21	APN	2	152,416,821 (GRCm39)	unclassified	probably benign
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

2011-12-09