Mutagenetix > Incidental Mutation

Incidental Mutation 'R4303:Defb12'

322502

Institutional Source

Beutler Lab

Gene Symbol

Defb12

Ensembl Gene

ENSMUSG00000043787

Gene Name

defensin beta 12

Synonyms

mBD-12, 9230103N16Rik

MMRRC Submission

041090-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19161947-19164850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19162737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 65 (I65T)

Ref Sequence

ENSEMBL: ENSMUSP00000060899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062113]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062113
AA Change: I65T

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

SMART Domains

Protein: ENSMUSP00000060899
Gene: ENSMUSG00000043787
AA Change: I65T

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Defensin_beta_2	52	81	2.7e-7	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,606,055 (GRCm39)	S247P	probably damaging	Het
Atg4b	A	G	1: 93,695,984 (GRCm39)	E41G	probably benign	Het
Bckdk	T	C	7: 127,504,502 (GRCm39)		probably benign	Het
Cacna2d1	A	G	5: 16,507,246 (GRCm39)		probably null	Het
Chaf1a	A	G	17: 56,351,068 (GRCm39)	D16G	unknown	Het
Dnah7c	T	C	1: 46,787,738 (GRCm39)	Y3264H	probably damaging	Het
Ehhadh	C	A	16: 21,581,602 (GRCm39)	K463N	probably damaging	Het
Ehmt2	G	A	17: 35,127,724 (GRCm39)	R901Q	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Ern2	T	C	7: 121,777,069 (GRCm39)		probably null	Het
Esp6	A	G	17: 40,876,035 (GRCm39)	T28A	possibly damaging	Het
Gm17333	A	C	16: 77,649,767 (GRCm39)		noncoding transcript	Het
Heatr5a	T	C	12: 52,003,008 (GRCm39)	T165A	probably benign	Het
Hoxa5	T	C	6: 52,181,240 (GRCm39)	S31G	probably benign	Het
Ift80	A	G	3: 68,801,507 (GRCm39)	I744T	probably benign	Het
Kalrn	T	C	16: 34,055,761 (GRCm39)	K853E	probably damaging	Het
Krt36	A	T	11: 99,994,239 (GRCm39)	D279E	possibly damaging	Het
Map3k11	T	A	19: 5,740,852 (GRCm39)	V193E	probably damaging	Het
Mrgpra4	T	A	7: 47,630,684 (GRCm39)	M306L	probably benign	Het
Myo1a	A	G	10: 127,549,602 (GRCm39)	T428A	probably benign	Het
Nuggc	A	G	14: 65,848,621 (GRCm39)	H174R	possibly damaging	Het
Or14c40	G	A	7: 86,313,163 (GRCm39)	V98M	probably benign	Het
Or1e29	A	T	11: 73,667,664 (GRCm39)	M163K	possibly damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Pik3ca	C	T	3: 32,494,084 (GRCm39)	R349*	probably null	Het
Rfxank	T	C	8: 70,588,862 (GRCm39)	D89G	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Serpina1a	A	G	12: 103,820,934 (GRCm39)	L348P	probably damaging	Het
Shank1	A	G	7: 43,991,898 (GRCm39)	Y701C	unknown	Het
Six4	G	T	12: 73,159,314 (GRCm39)	D207E	possibly damaging	Het
Slco3a1	G	T	7: 74,204,276 (GRCm39)	D21E	probably benign	Het
Sox6	C	T	7: 115,143,704 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,007,418 (GRCm39)	N216S	probably damaging	Het
Stard13	T	C	5: 150,986,334 (GRCm39)	N392S	possibly damaging	Het
Tax1bp1	T	C	6: 52,704,263 (GRCm39)	V81A	possibly damaging	Het
Trim29	G	T	9: 43,222,419 (GRCm39)	V83L	probably damaging	Het
Vmn1r90	C	T	7: 14,295,495 (GRCm39)	W201*	probably null	Het
Wdr31	T	A	4: 62,378,626 (GRCm39)	N7I	probably damaging	Het
Ypel4	A	G	2: 84,567,151 (GRCm39)		probably benign	Het
Zfp39	T	C	11: 58,780,843 (GRCm39)	K640E	probably damaging	Het
Zfp579	A	G	7: 4,996,072 (GRCm39)		probably benign	Het
Zfp974	C	A	7: 27,609,657 (GRCm39)	K689N	possibly damaging	Het

Other mutations in Defb12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0269:Defb12	UTSW	8	19,164,375 (GRCm39)	missense	probably damaging	0.99
R1843:Defb12	UTSW	8	19,162,754 (GRCm39)	missense	probably damaging	1.00
R2914:Defb12	UTSW	8	19,164,830 (GRCm39)	missense	probably benign
R5377:Defb12	UTSW	8	19,164,342 (GRCm39)	critical splice donor site	probably null
R5618:Defb12	UTSW	8	19,164,814 (GRCm39)	missense	possibly damaging	0.86
R6741:Defb12	UTSW	8	19,164,757 (GRCm39)	missense	probably benign	0.04
R8088:Defb12	UTSW	8	19,162,837 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCTTGTGTAGAAGGCATTC -3'
(R):5'- AACACTGCTGGCCATACACG -3'

Sequencing Primer
(F):5'- GGTCGTCTTAAAATTCAAATGAAGC -3'
(R):5'- GCAAACCCTGCCTGTCAG -3'

Posted On

2015-06-20