Mutagenetix > Incidental Mutation

Incidental Mutation 'R0856:Defb39'

82720

Institutional Source

Beutler Lab

Gene Symbol

Defb39

Ensembl Gene

ENSMUSG00000061847

Gene Name

defensin beta 39

Synonyms

MMRRC Submission

039035-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19102842-19114826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19102982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 38 (T38S)

Ref Sequence

ENSEMBL: ENSMUSP00000074947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075504]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075504
AA Change: T38S

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074947
Gene: ENSMUSG00000061847
AA Change: T38S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Defensin_beta	25	60	8.9e-16	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,154,262 (GRCm39)	S101R	probably benign	Het
Arhgap32	C	A	9: 32,171,516 (GRCm39)	P1432Q	probably damaging	Het
Atp7b	A	G	8: 22,487,647 (GRCm39)	V1134A	probably damaging	Het
Crtc3	A	T	7: 80,245,372 (GRCm39)	Y418N	probably damaging	Het
Cts8	A	T	13: 61,398,730 (GRCm39)	Y259N	probably damaging	Het
Depdc7	A	G	2: 104,558,437 (GRCm39)	S195P	probably benign	Het
Gykl1	T	A	18: 52,828,441 (GRCm39)	*550K	probably null	Het
Kcnip4	A	G	5: 48,576,552 (GRCm39)		probably null	Het
Kif20a	T	C	18: 34,764,271 (GRCm39)	S666P	probably benign	Het
Klhl32	T	C	4: 24,682,092 (GRCm39)	D197G	probably damaging	Het
Men1	A	G	19: 6,385,888 (GRCm39)	Y133C	probably damaging	Het
Mtnr1a	A	G	8: 45,540,870 (GRCm39)	E277G	possibly damaging	Het
Numa1	C	A	7: 101,648,155 (GRCm39)	Q629K	probably damaging	Het
Or2a52	T	C	6: 43,144,345 (GRCm39)	S118P	probably damaging	Het
P3h3	G	T	6: 124,831,896 (GRCm39)	D296E	probably benign	Het
Prl7c1	A	G	13: 27,957,717 (GRCm39)	I241T	possibly damaging	Het
Prr35	T	C	17: 26,167,001 (GRCm39)	S179G	probably benign	Het
Rp1	T	C	1: 4,414,878 (GRCm39)	E2078G	probably benign	Het
Septin8	A	G	11: 53,428,697 (GRCm39)	H414R	probably benign	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Upf2	A	G	2: 5,962,463 (GRCm39)	D55G	unknown	Het
Vit	G	T	17: 78,927,086 (GRCm39)	V344L	possibly damaging	Het
Vps26a	A	C	10: 62,304,189 (GRCm39)	V176G	possibly damaging	Het

Other mutations in Defb39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02662:Defb39	APN	8	19,102,891 (GRCm39)	missense	probably benign	0.33
R0336:Defb39	UTSW	8	19,102,985 (GRCm39)	missense	possibly damaging	0.77
R2847:Defb39	UTSW	8	19,102,909 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AAGCTACAGCTCAGGGTGTTTTCC -3'
(R):5'- TCCCACTGAACAGTTTGTGGTGATG -3'

Sequencing Primer
(F):5'- AGGGTGTTTTCCTTTATTATAACTGG -3'
(R):5'- gttcatcctttactctcagcatc -3'

Posted On

2013-11-08