Mutagenetix > Incidental Mutation

Incidental Mutation 'R1292:Defb40'

150819

Institutional Source

Beutler Lab

Gene Symbol

Defb40

Ensembl Gene

ENSMUSG00000053678

Gene Name

defensin beta 40

Synonyms

MMRRC Submission

039358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1292 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19024930-19028237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 19028080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 18 (I18S)

Ref Sequence

ENSEMBL: ENSMUSP00000066465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066258]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066258
AA Change: I18S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066465
Gene: ENSMUSG00000053678
AA Change: I18S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Defensin_beta	25	60	1.7e-14	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.7%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	A	9: 53,336,919 (GRCm39)	D74E	probably benign	Het
Abcb1a	A	T	5: 8,763,343 (GRCm39)	T624S	probably benign	Het
Atp8b1	T	C	18: 64,704,092 (GRCm39)	Y342C	probably damaging	Het
Clcnka	A	G	4: 141,122,903 (GRCm39)		probably benign	Het
Cma2	C	T	14: 56,211,199 (GRCm39)	R164C	probably damaging	Het
Cnga1	T	C	5: 72,762,026 (GRCm39)	D496G	probably damaging	Het
Ctbp2	T	A	7: 132,616,918 (GRCm39)	R6W	probably damaging	Het
Cyp3a11	T	C	5: 145,802,804 (GRCm39)	T230A	probably benign	Het
Fcgbpl1	A	C	7: 27,842,219 (GRCm39)		probably benign	Het
Gm10036	T	G	18: 15,966,368 (GRCm39)	I173S	possibly damaging	Het
Herc2	A	T	7: 55,846,951 (GRCm39)	I3634L	probably benign	Het
Igfbp1	A	G	11: 7,150,863 (GRCm39)	N218S	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Kmt2a	A	T	9: 44,725,991 (GRCm39)		probably benign	Het
Ly9	T	C	1: 171,416,671 (GRCm39)		probably null	Het
Mmut	C	A	17: 41,252,298 (GRCm39)	A280E	probably damaging	Het
Or5k16	C	T	16: 58,736,134 (GRCm39)	R290K	probably damaging	Het
Or6k6	A	G	1: 173,945,420 (GRCm39)	F54S	probably benign	Het
Pcdhb13	T	C	18: 37,576,885 (GRCm39)	V421A	probably benign	Het
Pik3ca	T	A	3: 32,508,569 (GRCm39)	L779Q	probably damaging	Het
Plxnd1	T	C	6: 115,939,644 (GRCm39)		probably benign	Het
Prss16	T	A	13: 22,193,691 (GRCm39)	K35*	probably null	Het
Rhbdl2	G	A	4: 123,723,435 (GRCm39)	A280T	possibly damaging	Het
Slc2a2	C	T	3: 28,771,637 (GRCm39)	T189I	probably damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
Tacr1	A	G	6: 82,531,856 (GRCm39)	I251V	probably damaging	Het
Tln1	A	G	4: 43,534,578 (GRCm39)		probably null	Het
Vdac3-ps1	T	C	13: 18,205,880 (GRCm39)		noncoding transcript	Het
Zfp458	A	T	13: 67,404,754 (GRCm39)	C562S	probably damaging	Het

Other mutations in Defb40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02991:Defb40	UTSW	8	19,025,119 (GRCm39)	missense	probably damaging	0.99
R4281:Defb40	UTSW	8	19,028,093 (GRCm39)	missense	probably damaging	0.98
R4282:Defb40	UTSW	8	19,028,093 (GRCm39)	missense	probably damaging	0.98
R4283:Defb40	UTSW	8	19,028,093 (GRCm39)	missense	probably damaging	0.98
R4858:Defb40	UTSW	8	19,025,093 (GRCm39)	missense	probably benign	0.16
R5808:Defb40	UTSW	8	19,025,095 (GRCm39)	missense	probably benign	0.01
R7819:Defb40	UTSW	8	19,025,050 (GRCm39)	missense	probably benign	0.05
R9076:Defb40	UTSW	8	19,024,994 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAAAGGCTGAAGCCCCTGTTG -3'
(R):5'- GTGCAAACCATGAGTGAAACCATCC -3'

Sequencing Primer
(F):5'- TGAACCTTGGAATGCTGTCC -3'
(R):5'- AGCTATTGGGCAGTCACTC -3'

Posted On

2014-01-29