Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02177:Defb43'

283145

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb43

Ensembl Gene

ENSMUSG00000075572

Gene Name

defensin beta 43

Synonyms

EG654458

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL02177

Quality Score

Status

Chromosome

Chromosomal Location

63249220-63255537 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63249266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

Ref Sequence

ENSEMBL: ENSMUSP00000098060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100491]

AlphaFold

Q30KM9

Predicted Effect

probably benign
Transcript: ENSMUST00000100491
AA Change: V3A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098060
Gene: ENSMUSG00000075572
AA Change: V3A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Defensin_beta_2	28	56	2.9e-10	PFAM
low complexity region	59	67	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	G	19: 53,205,323 (GRCm39)	Y24*	probably null	Het
Catsperb	A	G	12: 101,507,721 (GRCm39)	Y496C	probably damaging	Het
Ccdc183	C	T	2: 25,502,095 (GRCm39)	E260K	probably benign	Het
Ccdc81	A	C	7: 89,524,988 (GRCm39)	M531R	possibly damaging	Het
Cyp3a16	T	A	5: 145,386,964 (GRCm39)	N342I	probably benign	Het
Dpyd	T	A	3: 118,858,559 (GRCm39)	I591N	possibly damaging	Het
Dpysl5	T	G	5: 30,902,622 (GRCm39)	V18G	probably damaging	Het
Erc2	A	T	14: 27,620,580 (GRCm39)	M69L	probably benign	Het
Fam184b	G	T	5: 45,690,157 (GRCm39)	Y817*	probably null	Het
Fyb1	G	T	15: 6,688,047 (GRCm39)		probably null	Het
Gpr33	G	T	12: 52,070,863 (GRCm39)	Q59K	probably benign	Het
Heatr3	T	G	8: 88,883,351 (GRCm39)	F278V	probably benign	Het
Hectd1	A	T	12: 51,819,103 (GRCm39)	D1292E	probably damaging	Het
Herc1	A	T	9: 66,341,793 (GRCm39)	M1861L	probably benign	Het
Hspg2	T	A	4: 137,242,627 (GRCm39)	L614Q	probably damaging	Het
Itpr3	A	G	17: 27,318,588 (GRCm39)	R915G	possibly damaging	Het
Jhy	T	C	9: 40,809,553 (GRCm39)	D646G	probably damaging	Het
Lrig1	T	A	6: 94,640,977 (GRCm39)	N76I	possibly damaging	Het
Macc1	A	G	12: 119,429,292 (GRCm39)	D814G	probably damaging	Het
Mapk8ip1	T	C	2: 92,217,092 (GRCm39)	D401G	probably damaging	Het
Nedd4	T	A	9: 72,654,439 (GRCm39)	S865T	probably damaging	Het
Or9s27	G	A	1: 92,516,479 (GRCm39)	M142I	possibly damaging	Het
Pi4ka	A	T	16: 17,136,146 (GRCm39)	D937E	probably benign	Het
Prkcd	T	A	14: 30,327,844 (GRCm39)	I81F	probably damaging	Het
Ranbp9	A	T	13: 43,573,193 (GRCm39)	C280S	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scn1b	T	C	7: 30,816,655 (GRCm39)	*219W	probably null	Het
Slain2	T	C	5: 73,072,008 (GRCm39)	V14A	probably benign	Het
Soat1	A	T	1: 156,268,073 (GRCm39)		probably benign	Het
Tbc1d4	T	A	14: 101,692,375 (GRCm39)	M1030L	possibly damaging	Het
Tenm4	T	C	7: 96,544,869 (GRCm39)	V2295A	probably benign	Het
Tmem135	A	G	7: 88,987,661 (GRCm39)	Y46H	probably damaging	Het
Tnfsf18	A	T	1: 161,331,354 (GRCm39)	D168V	probably damaging	Het
Trdn	T	C	10: 33,015,169 (GRCm39)	V41A	probably damaging	Het
Trpc5	G	T	X: 143,264,234 (GRCm39)	L208I	probably damaging	Het
Vmn1r50	T	C	6: 90,085,139 (GRCm39)	Y295H	probably benign	Het
Vmn2r18	T	G	5: 151,510,274 (GRCm39)	H33P	possibly damaging	Het
Vmn2r84	T	C	10: 130,227,881 (GRCm39)	I118M	probably benign	Het

Other mutations in Defb43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03256:Defb43	APN	14	63,255,329 (GRCm39)	missense	probably damaging	0.98
R0671:Defb43	UTSW	14	63,249,287 (GRCm39)	missense	probably damaging	0.99
R1967:Defb43	UTSW	14	63,255,246 (GRCm39)	missense	probably benign	0.00
R6475:Defb43	UTSW	14	63,249,321 (GRCm39)	splice site	probably null
R9232:Defb43	UTSW	14	63,255,281 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16