Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01287:Defb50'

72775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb50

Ensembl Gene

ENSMUSG00000058568

Gene Name

defensin beta 50

Synonyms

Defb37, Pbd1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01287

Quality Score

Status

Chromosome

Chromosomal Location

22313557-22321312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22321187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 59 (T59K)

Ref Sequence

ENSEMBL: ENSMUSP00000077918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078879]

AlphaFold

Q6TU36

Predicted Effect

probably benign
Transcript: ENSMUST00000078879
AA Change: T59K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077918
Gene: ENSMUSG00000058568
AA Change: T59K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,040 (GRCm39)	K445E	probably damaging	Het
Abca15	A	T	7: 119,932,081 (GRCm39)		probably benign	Het
Acsbg3	C	T	17: 57,189,203 (GRCm39)	Q204*	probably null	Het
Acvr1c	A	T	2: 58,170,254 (GRCm39)	C371*	probably null	Het
Brs3	T	C	X: 56,092,727 (GRCm39)		probably benign	Het
Car14	C	T	3: 95,806,871 (GRCm39)	V198M	possibly damaging	Het
Cenpc1	G	A	5: 86,170,313 (GRCm39)	R704*	probably null	Het
Crybg1	C	T	10: 43,868,490 (GRCm39)	R1396H	possibly damaging	Het
Cubn	A	G	2: 13,315,377 (GRCm39)	S3019P	probably damaging	Het
Cyp2j9	T	C	4: 96,471,665 (GRCm39)	E222G	probably benign	Het
Dlg3	T	C	X: 99,850,848 (GRCm39)	I587T	possibly damaging	Het
Doc2a	C	T	7: 126,450,173 (GRCm39)	R204C	probably damaging	Het
Galc	T	C	12: 98,212,503 (GRCm39)		probably benign	Het
Gm8257	A	T	14: 44,892,800 (GRCm39)	F67I	probably damaging	Het
Hnrnpul1	A	T	7: 25,426,323 (GRCm39)	N509K	probably damaging	Het
Iars2	T	A	1: 185,028,625 (GRCm39)	I678F	possibly damaging	Het
Ifit1	A	G	19: 34,625,533 (GRCm39)	E223G	possibly damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Lrp4	C	A	2: 91,304,293 (GRCm39)	D157E	probably damaging	Het
Ltk	T	A	2: 119,586,186 (GRCm39)	T21S	probably benign	Het
Lvrn	A	T	18: 46,997,733 (GRCm39)		probably benign	Het
Maob	G	A	X: 16,578,881 (GRCm39)	A424V	probably damaging	Het
Myo1g	C	A	11: 6,465,856 (GRCm39)	V410F	possibly damaging	Het
Myorg	T	A	4: 41,498,923 (GRCm39)	I236F	possibly damaging	Het
Naxe	T	C	3: 87,963,981 (GRCm39)	H250R	probably damaging	Het
Nek5	T	C	8: 22,601,199 (GRCm39)	N174S	possibly damaging	Het
Or2y3	G	T	17: 38,392,998 (GRCm39)	N290K	probably damaging	Het
Or51l14	C	T	7: 103,101,002 (GRCm39)	R153W	probably damaging	Het
Or9m2	A	G	2: 87,821,288 (GRCm39)	T278A	probably benign	Het
Pex1	A	G	5: 3,656,027 (GRCm39)	T285A	probably benign	Het
Pfas	A	G	11: 68,892,086 (GRCm39)	S141P	probably benign	Het
Pmm1	T	C	15: 81,839,945 (GRCm39)	T127A	probably damaging	Het
Proc	C	A	18: 32,256,873 (GRCm39)		probably benign	Het
Ranbp9	T	C	13: 43,633,980 (GRCm39)	E142G	probably damaging	Het
Recql4	C	A	15: 76,594,112 (GRCm39)		probably benign	Het
Robo4	C	T	9: 37,324,336 (GRCm39)	P955S	possibly damaging	Het
Ryr3	T	A	2: 112,539,418 (GRCm39)	N3274I	probably damaging	Het
Serpinb10	T	C	1: 107,468,612 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,404,811 (GRCm39)	K848*	probably null	Het
Slfn5	A	G	11: 82,847,807 (GRCm39)	T231A	probably damaging	Het
Syncrip	T	C	9: 88,338,660 (GRCm39)		probably benign	Het
Syt16	A	T	12: 74,313,513 (GRCm39)	T480S	probably damaging	Het
Taf1c	G	A	8: 120,327,931 (GRCm39)	T293M	probably benign	Het
Tbc1d5	T	C	17: 51,120,826 (GRCm39)	D430G	possibly damaging	Het
Tbx18	T	C	9: 87,606,384 (GRCm39)	T254A	probably damaging	Het
Tpm1	C	T	9: 66,943,337 (GRCm39)	R105H	probably damaging	Het
Usp17la	T	C	7: 104,510,522 (GRCm39)	S376P	probably benign	Het
Vmn1r19	A	G	6: 57,382,179 (GRCm39)	D244G	probably damaging	Het
Vmn1r58	A	T	7: 5,414,054 (GRCm39)	F59I	probably benign	Het
Vmn2r45	A	T	7: 8,488,622 (GRCm39)	M136K	probably benign	Het
Vmn2r70	T	A	7: 85,218,227 (GRCm39)	R24*	probably null	Het
Vmn2r75	T	A	7: 85,797,801 (GRCm39)	I671F	probably damaging	Het

Other mutations in Defb50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R8090:Defb50	UTSW	8	22,321,087 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-10-07