Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01308:Defa40'

73518

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defa40

Ensembl Gene

ENSMUSG00000074441

Gene Name

defensin, alpha, 40

Synonyms

Gm15292, ENSMUSG00000074441

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL01308

Quality Score

Status

Chromosome

Chromosomal Location

21739770-21740572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21740434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 80 (T80I)

Ref Sequence

ENSEMBL: ENSMUSP00000096494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098895]

AlphaFold

L7N231

Predicted Effect

probably damaging
Transcript: ENSMUST00000098895
AA Change: T80I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096494
Gene: ENSMUSG00000074441
AA Change: T80I

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	1e-23	PFAM
DEFSN	64	92	1.57e-8	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,748,997 (GRCm39)	D1256G	probably damaging	Het
Acot7	A	T	4: 152,345,353 (GRCm39)	M308L	probably benign	Het
Adarb2	A	G	13: 8,253,329 (GRCm39)	R25G	possibly damaging	Het
Ano1	C	A	7: 144,149,235 (GRCm39)	Q875H	probably damaging	Het
Ano6	G	A	15: 95,811,542 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,611,523 (GRCm39)	D455V	probably benign	Het
Ehbp1	G	A	11: 22,088,022 (GRCm39)	P354L	probably damaging	Het
Eml5	T	C	12: 98,768,572 (GRCm39)	H1454R	probably damaging	Het
Esyt1	T	A	10: 128,355,660 (GRCm39)	N421Y	possibly damaging	Het
Gen1	T	C	12: 11,306,871 (GRCm39)	T100A	probably damaging	Het
Jak3	A	T	8: 72,137,810 (GRCm39)	D780V	probably damaging	Het
Klrb1a	A	G	6: 128,595,008 (GRCm39)		probably benign	Het
Lrp8	A	G	4: 107,721,273 (GRCm39)	I826M	probably benign	Het
Mcmbp	G	A	7: 128,316,209 (GRCm39)	Q214*	probably null	Het
Mtmr7	A	T	8: 41,050,388 (GRCm39)	Y136N	probably damaging	Het
Ndor1	A	G	2: 25,140,151 (GRCm39)	Y88H	probably benign	Het
Nkx2-4	A	G	2: 146,926,260 (GRCm39)	Y201H	possibly damaging	Het
Or3a1d	A	G	11: 74,237,486 (GRCm39)	L308P	probably damaging	Het
Or52n4b	T	A	7: 108,143,933 (GRCm39)	L65*	probably null	Het
Or6c5	A	T	10: 129,074,476 (GRCm39)	T153S	probably benign	Het
Pigg	T	C	5: 108,484,343 (GRCm39)	L663P	probably damaging	Het
Pik3cd	A	G	4: 149,741,917 (GRCm39)	V343A	probably damaging	Het
Plekha4	A	G	7: 45,187,659 (GRCm39)	S244G	probably damaging	Het
Prkce	T	A	17: 86,932,890 (GRCm39)	D623E	probably damaging	Het
Rasgrf2	A	G	13: 92,159,425 (GRCm39)		probably benign	Het
Rexo5	T	C	7: 119,433,499 (GRCm39)	W419R	probably damaging	Het
Rnaseh2b	A	G	14: 62,602,706 (GRCm39)		probably null	Het
Rras	A	G	7: 44,670,709 (GRCm39)	Y193C	possibly damaging	Het
Sall4	T	C	2: 168,592,164 (GRCm39)	I997V	probably damaging	Het
Sec31b	A	G	19: 44,512,122 (GRCm39)	F591L	probably benign	Het
Skic2	A	G	17: 35,059,610 (GRCm39)	L232P	probably benign	Het
Slc13a3	A	T	2: 165,248,700 (GRCm39)	I526N	probably damaging	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Snrnp25	A	G	11: 32,158,745 (GRCm39)		probably benign	Het
Tex264	T	C	9: 106,539,607 (GRCm39)	K201E	possibly damaging	Het
Tgfb1	G	T	7: 25,387,442 (GRCm39)	R50L	probably damaging	Het
Tle4	A	G	19: 14,445,625 (GRCm39)	V207A	probably benign	Het
Tmed1	A	T	9: 21,421,338 (GRCm39)	C45*	probably null	Het
Tmem260	A	G	14: 48,749,415 (GRCm39)	N638S	probably damaging	Het
Traf3ip3	T	C	1: 192,867,199 (GRCm39)	E274G	probably damaging	Het
Trak1	T	C	9: 121,272,802 (GRCm39)		probably null	Het
Trim3	A	T	7: 105,266,676 (GRCm39)	V502E	probably damaging	Het
Trmo	C	T	4: 46,377,053 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,666,332 (GRCm39)	R192Q	probably benign	Het

Other mutations in Defa40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Defa40	APN	8	21,740,377 (GRCm39)	missense	probably damaging	1.00
R4879:Defa40	UTSW	8	21,740,380 (GRCm39)	missense	probably damaging	0.98
R5799:Defa40	UTSW	8	21,740,359 (GRCm39)	splice site	probably null
R6630:Defa40	UTSW	8	21,739,904 (GRCm39)	missense	probably damaging	0.97
R7464:Defa40	UTSW	8	21,739,910 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-10-07