Mutagenetix > Incidental Mutation

Incidental Mutation 'R5170:Defa41'

397507

Institutional Source

Beutler Lab

Gene Symbol

Defa41

Ensembl Gene

ENSMUSG00000079116

Gene Name

defensin, alpha, 41

Synonyms

Gm15293

MMRRC Submission

042750-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5170 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

21691620-21692462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21691696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 26 (D26V)

Ref Sequence

ENSEMBL: ENSMUSP00000106382 (fasta)

Gene Model

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

AlphaFold

D3YX02

Predicted Effect

probably damaging
Transcript: ENSMUST00000110754
AA Change: D26V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106382
Gene: ENSMUSG00000079116
AA Change: D26V

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: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,745,969 (GRCm39)	I51V	probably benign	Het
Agbl2	A	G	2: 90,633,541 (GRCm39)	K559R	probably benign	Het
Arhgap30	A	G	1: 171,235,618 (GRCm39)	D664G	probably benign	Het
BC034090	A	G	1: 155,089,396 (GRCm39)	V798A	probably damaging	Het
Bdp1	A	T	13: 100,167,302 (GRCm39)	C2237*	probably null	Het
C3	C	T	17: 57,530,938 (GRCm39)	V388M	probably damaging	Het
Ccdc170	G	A	10: 4,464,200 (GRCm39)	E60K	probably damaging	Het
Cdh8	G	A	8: 100,006,182 (GRCm39)	T135M	probably damaging	Het
Cep131	G	T	11: 119,961,435 (GRCm39)	A572E	probably damaging	Het
Clec16a	A	G	16: 10,559,655 (GRCm39)	Y976C	probably benign	Het
Cplx3	G	A	9: 57,522,902 (GRCm39)	R153*	probably null	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Eno3	A	G	11: 70,553,040 (GRCm39)	I393V	probably benign	Het
Fbxo47	A	G	11: 97,748,520 (GRCm39)	V305A	probably benign	Het
Fry	G	A	5: 150,353,319 (GRCm39)	V1779M	probably benign	Het
Gtse1	T	C	15: 85,748,465 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,126,396 (GRCm39)	L328Q	probably damaging	Het
Ifi207	T	C	1: 173,558,064 (GRCm39)	T225A	unknown	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Lamc3	A	T	2: 31,777,356 (GRCm39)	M1L	probably benign	Het
Myo16	A	G	8: 10,619,745 (GRCm39)	D1432G	probably benign	Het
Nwd2	A	T	5: 63,963,380 (GRCm39)	N988I	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp14	T	C	16: 35,677,649 (GRCm39)	E773G	probably benign	Het
Psen1	T	A	12: 83,761,636 (GRCm39)	M146K	probably damaging	Het
Ptx4	G	A	17: 25,342,152 (GRCm39)	R209Q	probably benign	Het
Slc13a2	T	C	11: 78,291,634 (GRCm39)	T340A	probably damaging	Het
St8sia1	T	C	6: 142,909,434 (GRCm39)	K21E	probably damaging	Het
Stxbp1	T	C	2: 32,684,686 (GRCm39)	D581G	probably benign	Het
Sumo2	G	A	11: 115,425,486 (GRCm39)		probably benign	Het
Supt5	G	A	7: 28,015,508 (GRCm39)	P910S	probably benign	Het
Tbc1d30	T	C	10: 121,142,743 (GRCm39)	Q158R	possibly damaging	Het
Tenm2	T	A	11: 35,915,633 (GRCm39)	H1968L	probably damaging	Het
Trmt1	T	C	8: 85,421,861 (GRCm39)	Y220H	probably damaging	Het
Trp73	C	T	4: 154,189,295 (GRCm39)	E60K	possibly damaging	Het
Ttn	A	G	2: 76,617,413 (GRCm39)	Y8026H	probably damaging	Het
Zar1l	A	G	5: 150,441,050 (GRCm39)		probably null	Het
Zfp740	T	C	15: 102,117,640 (GRCm39)	Y117H	probably damaging	Het
Zfp941	G	A	7: 140,392,870 (GRCm39)		probably benign	Het
Zp1	C	A	19: 10,897,918 (GRCm39)	V8F	possibly 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
R3762:Defa41	UTSW	8	21,691,753 (GRCm39)	missense	probably damaging	0.99
R4963:Defa41	UTSW	8	21,691,774 (GRCm39)	missense	probably damaging	0.98
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'- TGATAACAGACTCTCCCAGTTCC -3'
(R):5'- GGAGCCACATTACTCTACCAG -3'

Sequencing Primer
(F):5'- AGAGTGCCTTCTCTAAGTGTAGACC -3'
(R):5'- GGAGCCACATTACTCTACCAGTATTC -3'

Posted On

2016-07-06