Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4677001:Defb34'

556554

Institutional Source

Beutler Lab

Gene Symbol

Defb34

Ensembl Gene

ENSMUSG00000052554

Gene Name

defensin beta 34

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

PIT4677001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19173768-19176556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19176412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 34 (R34S)

Ref Sequence

ENSEMBL: ENSMUSP00000064554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064475]

AlphaFold

Q7TNV8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064475
AA Change: R34S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000064554
Gene: ENSMUSG00000052554
AA Change: R34S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Defensin_beta_2	27	56	2.7e-8	PFAM

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.5%
20x: 71.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	A	2: 127,028,933 (GRCm39)	T89S	probably benign	Het
4921517D22Rik	A	T	13: 59,838,305 (GRCm39)	F176I	probably benign	Het
Acsm3	A	G	7: 119,374,340 (GRCm39)	D264G	probably damaging	Het
Adamts12	T	A	15: 11,286,896 (GRCm39)	F834I	probably benign	Het
Arhgap45	A	T	10: 79,856,583 (GRCm39)	M171L	probably benign	Het
Arid5b	A	T	10: 67,933,841 (GRCm39)	M687K	probably damaging	Het
AU040320	A	T	4: 126,686,030 (GRCm39)	Q202L	probably benign	Het
Ccdc47	A	G	11: 106,099,034 (GRCm39)	L219P	probably damaging	Het
Cfhr2	T	G	1: 139,733,117 (GRCm39)	S301R	unknown	Het
Cog2	T	A	8: 125,272,010 (GRCm39)	V508E	probably benign	Het
Cpb2	A	G	14: 75,493,463 (GRCm39)	T47A	probably benign	Het
Ddx60	A	T	8: 62,425,288 (GRCm39)	K692I	possibly damaging	Het
Fads2	A	T	19: 10,047,694 (GRCm39)	I275N	probably damaging	Het
Fmn2	T	G	1: 174,474,699 (GRCm39)	S1221A	probably damaging	Het
Fndc3a	A	T	14: 72,812,035 (GRCm39)	V302E	probably benign	Het
Galntl6	C	T	8: 58,310,621 (GRCm39)	C360Y	probably damaging	Het
Gm16519	A	T	17: 71,236,506 (GRCm39)	I152F	probably benign	Het
Hnrnpr	T	A	4: 136,056,750 (GRCm39)	V250D	probably damaging	Het
Hs3st6	A	G	17: 24,977,285 (GRCm39)	D255G	possibly damaging	Het
Ift70a1	A	G	2: 75,810,113 (GRCm39)	Y657H	possibly damaging	Het
Ino80	C	T	2: 119,208,026 (GRCm39)	V1422M	probably benign	Het
Insyn2b	A	T	11: 34,353,122 (GRCm39)	N388I	probably benign	Het
Kcnu1	A	G	8: 26,396,021 (GRCm39)	I669V	probably benign	Het
Layn	A	T	9: 50,968,711 (GRCm39)	V344E	probably damaging	Het
Mgll	A	T	6: 88,802,663 (GRCm39)	R273W	possibly damaging	Het
Myh2	G	A	11: 67,072,818 (GRCm39)	S636N	probably benign	Het
Nmur2	A	T	11: 55,923,835 (GRCm39)	S240T	probably benign	Het
Pkd1	T	G	17: 24,793,003 (GRCm39)	S1563R	possibly damaging	Het
Ppp4r3b	G	A	11: 29,137,978 (GRCm39)	V109I	probably benign	Het
Prdm2	A	T	4: 142,861,648 (GRCm39)	D547E	probably damaging	Het
Prss46	A	T	9: 110,685,098 (GRCm39)	M241L	probably benign	Het
Ptprf	T	A	4: 118,070,809 (GRCm39)	I1397F	probably damaging	Het
Pus10	A	T	11: 23,670,171 (GRCm39)	T418S	possibly damaging	Het
Qsox2	T	C	2: 26,112,320 (GRCm39)	D74G	probably damaging	Het
Sctr	T	C	1: 119,989,634 (GRCm39)	V383A	probably damaging	Het
Siglec1	T	A	2: 130,914,677 (GRCm39)	N1480Y	probably damaging	Het
Skint2	T	C	4: 112,483,135 (GRCm39)	I180T	probably benign	Het
Snd1	A	G	6: 28,880,295 (GRCm39)	I690V	probably benign	Het
Spire1	T	C	18: 67,624,435 (GRCm39)	T575A	probably damaging	Het
Srbd1	G	A	17: 86,422,640 (GRCm39)	R459*	probably null	Het
Tll2	C	A	19: 41,118,997 (GRCm39)	V244L	probably benign	Het
Tmem60	A	G	5: 21,091,366 (GRCm39)	I44V	probably benign	Het
Utrn	T	A	10: 12,542,448 (GRCm39)	I1846F	probably benign	Het
Vinac1	T	C	2: 128,880,636 (GRCm39)	D430G		Het
Vps8	T	C	16: 21,319,084 (GRCm39)	F641S	possibly damaging	Het

Other mutations in Defb34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02725:Defb34	APN	8	19,173,774 (GRCm39)	missense	unknown
R0624:Defb34	UTSW	8	19,173,784 (GRCm39)	missense	unknown
R4514:Defb34	UTSW	8	19,176,522 (GRCm39)	missense	probably damaging	0.98
R4728:Defb34	UTSW	8	19,176,434 (GRCm39)	missense	possibly damaging	0.71
R5866:Defb34	UTSW	8	19,176,468 (GRCm39)	missense	probably damaging	0.98
R7308:Defb34	UTSW	8	19,176,395 (GRCm39)	missense	probably benign	0.32
R7580:Defb34	UTSW	8	19,176,426 (GRCm39)	missense	possibly damaging	0.86
R8324:Defb34	UTSW	8	19,173,814 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCAAGCAATTCATCTACGGG -3'
(R):5'- ACAGCCATTTATTTTCGCTGAAGC -3'

Sequencing Primer
(F):5'- CAATTCATCTACGGGAGGCTAAAG -3'
(R):5'- ATTTTCGCTGAAGCATCTGC -3'

Posted On

2019-06-07