Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02665:Defb20'

302700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb20

Ensembl Gene

Gene Name

defensin beta 20

Synonyms

9230107O10Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02665

Quality Score

Status

Chromosome

Chromosomal Location

152318983-152321645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152321496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 91 (Y91C)

Ref Sequence

ENSEMBL: ENSMUSP00000105462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109836]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109836
AA Change: Y91C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105462
Gene: ENSMUSG00000049560
AA Change: Y91C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Defensin_beta_2	23	53	2e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cenpc1	T	C	5: 86,194,262 (GRCm39)	N168S	probably benign	Het
Cep295	A	G	9: 15,237,928 (GRCm39)		probably benign	Het
Dio2	T	C	12: 90,696,427 (GRCm39)	D187G	possibly damaging	Het
Fat4	G	A	3: 39,056,985 (GRCm39)	R4227Q	probably benign	Het
Fsip2	G	A	2: 82,823,407 (GRCm39)	G6380D	probably damaging	Het
Gm5916	A	T	9: 36,039,962 (GRCm39)	F9I	possibly damaging	Het
Havcr2	T	A	11: 46,370,221 (GRCm39)	V216E	probably benign	Het
Hdac7	G	A	15: 97,694,838 (GRCm39)		probably benign	Het
Itgb8	T	C	12: 119,130,600 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,440,227 (GRCm39)		probably null	Het
Lcn3	G	A	2: 25,656,416 (GRCm39)	A99T	possibly damaging	Het
Lox	T	A	18: 52,658,316 (GRCm39)		probably benign	Het
Lrrc7	A	G	3: 157,866,742 (GRCm39)	S1000P	probably damaging	Het
Muc5ac	T	C	7: 141,344,823 (GRCm39)	F98S	possibly damaging	Het
Nsd1	T	C	13: 55,443,996 (GRCm39)	Y1835H	probably damaging	Het
Pnpla3	A	G	15: 84,055,406 (GRCm39)	D104G	probably benign	Het
Rab3ip	T	A	10: 116,773,453 (GRCm39)	Q120L	probably benign	Het
Ranbp6	T	A	19: 29,790,301 (GRCm39)	Q17L	possibly damaging	Het
Serpinb9g	T	C	13: 33,679,086 (GRCm39)	C319R	possibly damaging	Het
Ska3	T	C	14: 58,059,529 (GRCm39)	K99E	probably damaging	Het
Srcap	T	A	7: 127,140,075 (GRCm39)	S1330R	probably damaging	Het
Vmn2r82	T	A	10: 79,215,205 (GRCm39)	M396K	probably damaging	Het
Vmn2r87	T	G	10: 130,333,049 (GRCm39)	D67A	probably benign	Het

Posted On

2015-04-16