Mutagenetix > Incidental Mutation

Incidental Mutation 'R6333:Defa34'

513237

Institutional Source

Beutler Lab

Gene Symbol

Defa34

Ensembl Gene

ENSMUSG00000063206

Gene Name

defensin, alpha, 34

Synonyms

Gm15315, ENSMUSG00000063206

MMRRC Submission

044487-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6333 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22155813-22156748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22155862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 17 (V17A)

Ref Sequence

ENSEMBL: ENSMUSP00000074745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075268]

AlphaFold

D3Z0J0

Predicted Effect

probably benign
Transcript: ENSMUST00000075268
AA Change: V17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074745
Gene: ENSMUSG00000063206
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	7.2e-27	PFAM
DEFSN	64	92	2.26e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.9%
20x: 93.2%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	T	C	9: 15,203,372 (GRCm39)	K111R	probably benign	Het
Abhd18	A	G	3: 40,888,218 (GRCm39)	Y354C	probably benign	Het
Acap1	T	C	11: 69,774,427 (GRCm39)	I424V	possibly damaging	Het
AI182371	A	T	2: 34,975,281 (GRCm39)	I306K	probably damaging	Het
Asb4	G	A	6: 5,423,597 (GRCm39)	R248H	probably damaging	Het
Brd7	T	C	8: 89,071,819 (GRCm39)	T349A	probably damaging	Het
Bub1b	T	C	2: 118,428,944 (GRCm39)		probably null	Het
Cep85l	G	A	10: 53,225,197 (GRCm39)	Q131*	probably null	Het
Chmp2b	T	A	16: 65,337,136 (GRCm39)	M178L	possibly damaging	Het
Chrnb3	A	G	8: 27,883,355 (GRCm39)	N84D	probably damaging	Het
Clec4b2	A	T	6: 123,177,637 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,653,856 (GRCm39)	L947Q	probably damaging	Het
Dynlt2a1	G	A	17: 15,261,717 (GRCm39)		probably benign	Het
Ell	A	G	8: 71,044,188 (GRCm39)	Y578C	probably damaging	Het
Esp36	T	A	17: 38,728,135 (GRCm39)	M49L	probably benign	Het
Fbxw19	A	T	9: 109,323,751 (GRCm39)	W75R	probably benign	Het
Fcgr4	A	G	1: 170,856,838 (GRCm39)	Y235C	probably damaging	Het
Gm10110	A	C	14: 90,135,733 (GRCm39)		noncoding transcript	Het
Gm13030	A	T	4: 138,598,708 (GRCm39)		probably null	Het
Hdac9	T	C	12: 34,102,323 (GRCm39)	M1058V	probably damaging	Het
Hsd3b6	A	G	3: 98,713,540 (GRCm39)	F253S	probably damaging	Het
Hspg2	T	C	4: 137,289,266 (GRCm39)	Y3794H	probably damaging	Het
Mark4	G	A	7: 19,177,208 (GRCm39)	T207M	probably damaging	Het
Mme	A	G	3: 63,249,382 (GRCm39)	T304A	probably benign	Het
Neb	A	G	2: 52,148,275 (GRCm39)	L2657P	probably damaging	Het
Nufip1	A	C	14: 76,349,425 (GRCm39)	K152N	probably damaging	Het
Pcdh1	A	G	18: 38,331,860 (GRCm39)	V381A	probably benign	Het
Pdss1	A	G	2: 22,791,778 (GRCm39)	T30A	probably damaging	Het
Plrg1	A	G	3: 82,964,102 (GRCm39)	T12A	probably damaging	Het
Ppig	C	T	2: 69,579,902 (GRCm39)	H479Y	unknown	Het
Prokr2	A	G	2: 132,215,898 (GRCm39)	F188L	probably damaging	Het
Prss39	A	G	1: 34,539,150 (GRCm39)	N130S	probably benign	Het
Ptar1	G	A	19: 23,671,686 (GRCm39)	D30N	possibly damaging	Het
Rai14	G	T	15: 10,575,022 (GRCm39)	Y645*	probably null	Het
Rnasek	T	C	11: 70,129,252 (GRCm39)	Y67C	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,354,192 (GRCm39)	V4023A	probably damaging	Het
Sash3	C	T	X: 47,248,398 (GRCm39)	L307F	probably damaging	Homo
Sctr	T	C	1: 119,984,182 (GRCm39)	F357L	probably damaging	Het
Sec14l5	G	A	16: 4,984,908 (GRCm39)	V85I	probably benign	Het
Shld2	G	A	14: 33,989,565 (GRCm39)	T447M	probably damaging	Het
Sirpd	T	C	3: 15,385,671 (GRCm39)	Y77C	probably damaging	Het
Spag8	T	C	4: 43,653,186 (GRCm39)		probably benign	Het
Tbc1d2	T	C	4: 46,620,736 (GRCm39)	D358G	possibly damaging	Het
Tenm4	A	G	7: 96,423,331 (GRCm39)	T672A	probably damaging	Het
Tent2	G	A	13: 93,322,821 (GRCm39)	Q43*	probably null	Het
Trmt1l	T	A	1: 151,329,685 (GRCm39)	S543T	probably benign	Het
Ube4b	A	G	4: 149,432,494 (GRCm39)	F810S	probably damaging	Het
Vmn2r104	C	T	17: 20,249,848 (GRCm39)	V808I	probably benign	Het
Zfp3	T	A	11: 70,662,266 (GRCm39)	I75N	probably benign	Het
Zwint	A	G	10: 72,490,784 (GRCm39)		probably benign	Het

Other mutations in Defa34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0110:Defa34	UTSW	8	22,155,988 (GRCm39)	splice site	probably null
R0469:Defa34	UTSW	8	22,155,988 (GRCm39)	splice site	probably null
R0510:Defa34	UTSW	8	22,155,988 (GRCm39)	splice site	probably null
R7639:Defa34	UTSW	8	22,155,883 (GRCm39)	missense	probably benign	0.37
R7698:Defa34	UTSW	8	22,156,645 (GRCm39)	missense	probably damaging	1.00
R7774:Defa34	UTSW	8	22,155,978 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AGTTCCCATCAAAGAGTGCC -3'
(R):5'- ATAGAGTTGCCAAGGGAGCC -3'

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

Posted On

2018-04-27