Mutagenetix > Incidental Mutation

Incidental Mutation 'R3762:Defa41'

270561

Institutional Source

Beutler Lab

Gene Symbol

Defa41

Ensembl Gene

ENSMUSG00000079116

Gene Name

defensin, alpha, 41

Synonyms

Gm15293

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3762 (G1)

Quality Score

134

Status

Not validated

Chromosome

Chromosomal Location

21691620-21692462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21691753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 45 (S45F)

Ref Sequence

ENSEMBL: ENSMUSP00000106382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110754]

AlphaFold

D3YX02

Predicted Effect

probably damaging
Transcript: ENSMUST00000110754
AA Change: S45F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106382
Gene: ENSMUSG00000079116
AA Change: S45F

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	3.5e-24	PFAM
DEFSN	64	92	7.12e-7	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	T	7: 16,299,000 (GRCm39)	S22T	probably damaging	Het
Atp2b1	T	C	10: 98,845,351 (GRCm39)	I718T	probably damaging	Het
Cad	T	A	5: 31,232,890 (GRCm39)		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Dhx15	G	A	5: 52,324,074 (GRCm39)	P406L	probably benign	Het
Dnah17	T	A	11: 117,995,352 (GRCm39)	M999L	probably benign	Het
Dpysl4	A	G	7: 138,676,672 (GRCm39)	E374G	probably damaging	Het
Gatad2a	T	C	8: 70,368,930 (GRCm39)		probably null	Het
Gm826	C	A	2: 160,155,423 (GRCm39)		probably benign	Het
H2-M10.1	T	A	17: 36,636,216 (GRCm39)	H117L	probably damaging	Het
Klhl9	A	T	4: 88,639,830 (GRCm39)	V137D	possibly damaging	Het
Limch1	A	G	5: 67,186,183 (GRCm39)	Y828C	probably damaging	Het
Med1	T	C	11: 98,046,341 (GRCm39)		probably benign	Het
Muc5ac	A	T	7: 141,361,212 (GRCm39)	T1507S	possibly damaging	Het
Pak6	A	T	2: 118,526,958 (GRCm39)	Q651L	probably damaging	Het
Plscr2	T	A	9: 92,173,133 (GRCm39)	V90D	probably damaging	Het
Rbbp4	G	A	4: 129,228,344 (GRCm39)	T2I	probably damaging	Het
Rnf121	G	A	7: 101,673,244 (GRCm39)	T223M	probably damaging	Het
Rsph6a	A	G	7: 18,789,256 (GRCm39)	K196R	probably damaging	Het
Tex47	A	T	5: 7,355,529 (GRCm39)	I237L	probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vmn1r30	C	A	6: 58,412,278 (GRCm39)	V185L	probably benign	Het
Vmn2r103	A	T	17: 20,032,411 (GRCm39)	E728D	probably damaging	Het
Vmn2r14	A	T	5: 109,368,033 (GRCm39)	Y320N	probably benign	Het
Zc3h14	T	A	12: 98,724,902 (GRCm39)	F188Y	probably damaging	Het

Other mutations in Defa41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1077:Defa41	UTSW	8	21,692,449 (GRCm39)	missense	probably benign	0.00
R4963:Defa41	UTSW	8	21,691,774 (GRCm39)	missense	probably damaging	0.98
R5170:Defa41	UTSW	8	21,691,696 (GRCm39)	missense	probably damaging	1.00
R6148:Defa41	UTSW	8	21,692,428 (GRCm39)	missense	probably benign	0.00
R6594:Defa41	UTSW	8	21,692,471 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCTCCTGCTCAACAATTC -3'
(R):5'- ATCTACTCAGAGTATTGGAGCACTC -3'

Sequencing Primer
(F):5'- TGCTCAACAATTCTCCAGGTGAC -3'
(R):5'- GGAGCACTCTTATTGTTGAAATTCCC -3'

Posted On

2015-03-18