Mutagenetix > Incidental Mutation

Incidental Mutation 'R6549:Defb8'

521442

Institutional Source

Beutler Lab

Gene Symbol

Defb8

Ensembl Gene

ENSMUSG00000031471

Gene Name

defensin beta 8

Synonyms

mBD8, Defr1

MMRRC Submission

044674-MU

Accession Numbers

Essential gene?

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

Stock #

R6549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19495785-19497622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19497560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 17 (P17Q)

Ref Sequence

ENSEMBL: ENSMUSP00000033854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033854]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000033854
AA Change: P17Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033854
Gene: ENSMUSG00000031471
AA Change: P17Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Defensin_beta	27	60	4.2e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	T	C	9: 53,404,477 (GRCm39)	D1288G	probably benign	Het
Atxn7	T	C	14: 14,013,087 (GRCm38)	S2P	probably damaging	Het
C1rl	T	A	6: 124,485,487 (GRCm39)	I286N	probably benign	Het
Ccdc54	T	C	16: 50,410,388 (GRCm39)	R293G	possibly damaging	Het
Cndp1	A	T	18: 84,654,309 (GRCm39)	I85K	probably benign	Het
Col25a1	A	G	3: 129,976,444 (GRCm39)	T110A	probably benign	Het
Dnah1	A	T	14: 30,991,340 (GRCm39)	L3146Q	probably damaging	Het
Espn	A	T	4: 152,215,525 (GRCm39)	M1K	probably null	Het
Gm9922	C	A	14: 101,966,893 (GRCm39)		probably benign	Het
Hycc2	T	C	1: 58,578,759 (GRCm39)	I264V	probably benign	Het
Ldb3	A	G	14: 34,263,854 (GRCm39)	M545T	probably damaging	Het
Or8k30	A	T	2: 86,339,726 (GRCm39)	I308L	probably benign	Het
Piezo1	G	A	8: 123,227,002 (GRCm39)	H420Y		Het
Primpol	A	T	8: 47,058,185 (GRCm39)	L115I	probably damaging	Het
Pus10	G	A	11: 23,679,075 (GRCm39)		probably null	Het
Rictor	C	G	15: 6,825,656 (GRCm39)	A1689G	probably damaging	Het
Scn2a	A	G	2: 65,595,018 (GRCm39)	N1956D	probably benign	Het
Scn4a	T	C	11: 106,234,791 (GRCm39)	D384G	probably damaging	Het
Sell	A	G	1: 163,893,198 (GRCm39)	D138G	probably damaging	Het
Slc4a7	T	A	14: 14,748,564 (GRCm38)	F327L	probably damaging	Het
Sox6	A	G	7: 115,085,927 (GRCm39)	I680T	possibly damaging	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Vmn1r31	A	T	6: 58,449,648 (GRCm39)	N72K	possibly damaging	Het
Vmn2r77	A	G	7: 86,450,065 (GRCm39)	I104V	probably benign	Het
Zfp988	G	A	4: 147,416,310 (GRCm39)	C248Y	probably benign	Het

Other mutations in Defb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1175:Defb8	UTSW	8	19,495,910 (GRCm39)	missense	probably damaging	1.00
R1851:Defb8	UTSW	8	19,495,899 (GRCm39)	missense	probably benign	0.05
R4714:Defb8	UTSW	8	19,497,575 (GRCm39)	missense	probably damaging	0.99
R4998:Defb8	UTSW	8	19,497,603 (GRCm39)	missense	probably benign	0.33
R6631:Defb8	UTSW	8	19,495,950 (GRCm39)	missense	probably benign	0.02
R8669:Defb8	UTSW	8	19,495,973 (GRCm39)	missense	probably benign	0.23
Z1088:Defb8	UTSW	8	19,497,557 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- AGTTCATACTCAGAGGAACAGACAC -3'
(R):5'- ACTGAGTGTGCTCTCCAAGG -3'

Sequencing Primer
(F):5'- GTGAGATCGAGACAGACCAACAC -3'
(R):5'- GCTCTCCAAGGTCATTTTAACAAGAG -3'

Posted On

2018-06-06