Mutagenetix > Incidental Mutation

Incidental Mutation 'R6410:Defb47'

514583

Institutional Source

Beutler Lab

Gene Symbol

Defb47

Ensembl Gene

ENSMUSG00000075573

Gene Name

defensin beta 47

Synonyms

MMRRC Submission

044383-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63235526-63238609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63238442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 56 (V56A)

Ref Sequence

ENSEMBL: ENSMUSP00000098061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100492]

AlphaFold

Q30KN1

Predicted Effect

probably benign
Transcript: ENSMUST00000100492
AA Change: V56A

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

SMART Domains

Protein: ENSMUSP00000098061
Gene: ENSMUSG00000075573
AA Change: V56A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Defensin_beta	28	61	7.7e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	C	T	4: 132,790,210 (GRCm39)	R484W	probably damaging	Het
Arhgap24	T	A	5: 103,040,017 (GRCm39)	I411N	probably benign	Het
Armt1	A	G	10: 4,403,826 (GRCm39)	S304G	probably benign	Het
Atg9b	T	A	5: 24,591,108 (GRCm39)	N774I	possibly damaging	Het
C1s1	C	T	6: 124,508,117 (GRCm39)	C624Y	probably damaging	Het
Camsap2	C	A	1: 136,273,182 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,564,798 (GRCm39)	S248P	probably benign	Het
Cd28	A	T	1: 60,804,442 (GRCm39)	H140L	probably benign	Het
Csmd3	G	A	15: 48,536,803 (GRCm39)	T133I	probably damaging	Het
D430041D05Rik	A	T	2: 103,998,548 (GRCm39)		probably null	Het
Fxyd5	T	C	7: 30,734,831 (GRCm39)	E132G	probably damaging	Het
H2-M2	A	G	17: 37,794,104 (GRCm39)	V40A	probably damaging	Het
H2-Q7	T	C	17: 35,659,152 (GRCm39)	L201P	probably benign	Het
Klra9	T	G	6: 130,155,957 (GRCm39)	D266A	probably damaging	Het
Meioc	A	G	11: 102,565,860 (GRCm39)	N492S	probably benign	Het
Nmt2	A	G	2: 3,317,215 (GRCm39)	E341G	probably damaging	Het
Nutm1	A	C	2: 112,079,074 (GRCm39)	V947G	possibly damaging	Het
Oga	T	C	19: 45,764,484 (GRCm39)		probably null	Het
Or7e177	T	A	9: 20,211,748 (GRCm39)	I84N	probably damaging	Het
Pm20d1	G	A	1: 131,726,334 (GRCm39)	G57D	probably benign	Het
Pnpla5	A	G	15: 84,004,880 (GRCm39)	I157T	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sv2b	A	T	7: 74,789,857 (GRCm39)	I392N	probably benign	Het
Wfdc8	T	A	2: 164,439,663 (GRCm39)	I240F	probably benign	Het

Other mutations in Defb47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5940:Defb47	UTSW	14	63,238,359 (GRCm39)	missense	probably benign	0.19
R8674:Defb47	UTSW	14	63,235,579 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGAGCCATTTTCTAGGATTGTGGC -3'
(R):5'- TTGCAGTGACCAGGAAGTACG -3'

Sequencing Primer
(F):5'- GCTTTGGGCACATTTACAGTAC -3'
(R):5'- CGCAGGATATTTATTTGCAGGCAAG -3'

Posted On

2018-05-04