Mutagenetix > Incidental Mutation

Incidental Mutation 'R4462:Defa17'

330184

Institutional Source

Beutler Lab

Gene Symbol

Defa17

Ensembl Gene

ENSMUSG00000060208

Gene Name

defensin, alpha, 17

Synonyms

Crypt defensin 17, Defcr17, cryptdin 17, Cryp17

Accession Numbers

Essential gene?

Not available question?

Stock #

R4462 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

22145796-22146751 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22146553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 60 (R60G)

Ref Sequence

ENSEMBL: ENSMUSP00000078485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079528]

AlphaFold

P28310

Predicted Effect

probably benign
Transcript: ENSMUST00000079528
AA Change: R60G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000078485
Gene: ENSMUSG00000060208
AA Change: R60G

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	52	9.4e-30	PFAM
DEFSN	64	92	2e-10	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	T	6: 55,457,084 (GRCm39)	I272F	possibly damaging	Het
Adgrl3	C	T	5: 81,836,357 (GRCm39)	A705V	probably damaging	Het
Arhgef12	A	T	9: 42,893,278 (GRCm39)	V975E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Btnl6	A	G	17: 34,727,031 (GRCm39)	S500P	probably damaging	Het
Ccdc39	C	T	3: 33,868,817 (GRCm39)	R798Q	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cdon	T	C	9: 35,368,876 (GRCm39)	V34A	probably damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Fuca2	T	C	10: 13,378,979 (GRCm39)	V41A	probably damaging	Het
Ggt6	C	A	11: 72,328,654 (GRCm39)	H385N	possibly damaging	Het
Hgsnat	G	A	8: 26,444,664 (GRCm39)	T428I	probably damaging	Het
Nefh	A	G	11: 4,891,015 (GRCm39)	S535P	probably damaging	Het
Or2y6	T	A	11: 52,104,801 (GRCm39)	N5I	probably damaging	Het
Or8b1c	T	A	9: 38,384,360 (GRCm39)	F106I	probably benign	Het
Pkhd1l1	T	C	15: 44,445,200 (GRCm39)	F3691L	probably damaging	Het
Polr2a	T	C	11: 69,637,229 (GRCm39)	D282G	probably damaging	Het
Ranbp17	T	C	11: 33,167,421 (GRCm39)		probably null	Het
Slc13a2	T	C	11: 78,295,213 (GRCm39)	T187A	probably benign	Het
Slco3a1	A	C	7: 74,204,311 (GRCm39)	S10A	probably benign	Het
Snph	A	T	2: 151,436,035 (GRCm39)	S229T	probably damaging	Het
Trim38	A	G	13: 23,975,435 (GRCm39)	Y458C	probably null	Het
Ubr4	A	G	4: 139,145,813 (GRCm39)	M1537V	possibly damaging	Het

Other mutations in Defa17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5541:Defa17	UTSW	8	22,146,565 (GRCm39)	missense	probably damaging	1.00
R5773:Defa17	UTSW	8	22,146,574 (GRCm39)	missense	probably damaging	1.00
R7194:Defa17	UTSW	8	22,146,613 (GRCm39)	missense	probably benign	0.18
Z1177:Defa17	UTSW	8	22,146,610 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGACCTACACCCCTGAAGTG -3'
(R):5'- AGCCTTGACTGAGCCTTGTAG -3'

Sequencing Primer
(F):5'- ACACCCCTGAAGTGTGTTATTG -3'
(R):5'- TGCGAACAATTTATTGCGAGG -3'

Posted On

2015-07-21