Mutagenetix > Incidental Mutation

Incidental Mutation 'R4986:Defa30'

385878

Institutional Source

Beutler Lab

Gene Symbol

Defa30

Ensembl Gene

ENSMUSG00000074444

Gene Name

defensin, alpha, 30

Synonyms

Gm15284

MMRRC Submission

042580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4986 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21624658-21625614 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21625432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 65 (Y65*)

Ref Sequence

ENSEMBL: ENSMUSP00000096497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098898]

AlphaFold

E9QPZ2

Predicted Effect

probably null
Transcript: ENSMUST00000098898
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000096497
Gene: ENSMUSG00000074444
AA Change: Y65*

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	4.9e-27	PFAM
DEFSN	64	92	2.94e-8	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,573,317 (GRCm39)	C1005S	probably benign	Het
Armh4	A	T	14: 49,989,111 (GRCm39)	D619E	probably damaging	Het
Ccdc34	T	C	2: 109,848,214 (GRCm39)	M1T	probably null	Het
Ceacam5	T	A	7: 17,491,758 (GRCm39)	N709K	possibly damaging	Het
Ces2f	G	A	8: 105,678,657 (GRCm39)	S298N	probably benign	Het
Dock3	A	C	9: 106,809,182 (GRCm39)	C1314G	probably damaging	Het
Emc2	A	G	15: 43,375,180 (GRCm39)	M226V	probably benign	Het
Fat3	T	C	9: 15,909,636 (GRCm39)	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,431,037 (GRCm39)	D560G	probably benign	Het
Gm9944	T	C	4: 144,179,760 (GRCm39)		probably benign	Het
Gpr137c	A	T	14: 45,483,743 (GRCm39)		probably null	Het
Igf2bp2	C	T	16: 21,889,056 (GRCm39)		probably null	Het
Igsf10	T	C	3: 59,236,027 (GRCm39)	T1385A	probably benign	Het
Itpr2	T	A	6: 146,141,840 (GRCm39)	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,690,049 (GRCm39)	H248R	probably damaging	Het
Macf1	C	T	4: 123,284,914 (GRCm39)	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,508,545 (GRCm39)	F266L	possibly damaging	Het
Mecom	G	T	3: 30,034,848 (GRCm39)	P466Q	probably damaging	Het
Muc20	A	G	16: 32,598,009 (GRCm39)		probably benign	Het
Or4x11	A	T	2: 89,867,772 (GRCm39)	N170Y	probably damaging	Het
Or5w8	T	A	2: 87,687,858 (GRCm39)	L113Q	probably damaging	Het
Osmr	A	G	15: 6,846,061 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Sacs	T	A	14: 61,450,492 (GRCm39)	Y4179*	probably null	Het
Septin11	T	C	5: 93,309,100 (GRCm39)	V203A	probably damaging	Het
Skint9	T	A	4: 112,248,910 (GRCm39)	T173S	probably benign	Het
Slain1	A	T	14: 103,925,541 (GRCm39)	R296S	probably damaging	Het
Slc36a3	T	A	11: 55,037,592 (GRCm39)	*93C	probably null	Het
Sp110	G	A	1: 85,519,481 (GRCm39)	P116S	probably benign	Het
Srl	T	C	16: 4,314,646 (GRCm39)	Y332C	probably benign	Het
Ubtf	G	A	11: 102,205,000 (GRCm39)	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Ybx1	C	T	4: 119,139,627 (GRCm39)	V123I	probably damaging	Het
Zfp944	A	T	17: 22,558,211 (GRCm39)	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,742,014 (GRCm39)	F113I	probably benign	Het

Other mutations in Defa30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Defa30	APN	8	21,625,467 (GRCm39)	missense	probably benign	0.04
R0779:Defa30	UTSW	8	21,624,691 (GRCm39)	missense	probably benign
R1476:Defa30	UTSW	8	21,624,752 (GRCm39)	missense	possibly damaging	0.69
R1716:Defa30	UTSW	8	21,625,431 (GRCm39)	missense	probably damaging	1.00
R1854:Defa30	UTSW	8	21,625,500 (GRCm39)	missense	probably damaging	0.98
R2892:Defa30	UTSW	8	21,624,679 (GRCm39)	start codon destroyed	probably damaging	1.00
R4356:Defa30	UTSW	8	21,624,821 (GRCm39)	missense	possibly damaging	0.93
R5428:Defa30	UTSW	8	21,625,419 (GRCm39)	missense	probably benign	0.00
R7046:Defa30	UTSW	8	21,625,471 (GRCm39)	missense	probably benign	0.14
R7420:Defa30	UTSW	8	21,625,471 (GRCm39)	missense	probably benign	0.14
R8305:Defa30	UTSW	8	21,625,475 (GRCm39)	missense	probably benign	0.25
R8316:Defa30	UTSW	8	21,624,709 (GRCm39)	missense	probably benign	0.01
R9375:Defa30	UTSW	8	21,624,686 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTCAAGTGCATGACCAAC -3'
(R):5'- ATGTGAACACACAGGAAGCATATTG -3'

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

Posted On

2016-05-10