Mutagenetix > Incidental Mutation

Incidental Mutation 'R5618:Defb12'

439641

Institutional Source

Beutler Lab

Gene Symbol

Defb12

Ensembl Gene

ENSMUSG00000043787

Gene Name

defensin beta 12

Synonyms

mBD-12, 9230103N16Rik

MMRRC Submission

043277-MU

Accession Numbers

Essential gene?

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

Stock #

R5618 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19161947-19164850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19164814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 8 (M8K)

Ref Sequence

ENSEMBL: ENSMUSP00000060899 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062113
AA Change: M8K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060899
Gene: ENSMUSG00000043787
AA Change: M8K

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	G	A	5: 107,696,065 (GRCm39)	W167*	probably null	Het
Acvr1	C	T	2: 58,352,955 (GRCm39)	R335Q	probably damaging	Het
Atg7	A	G	6: 114,650,660 (GRCm39)	D67G	probably damaging	Het
Avil	T	C	10: 126,846,446 (GRCm39)	F417S	possibly damaging	Het
AW551984	A	T	9: 39,502,000 (GRCm39)	L702Q	probably damaging	Het
Bcl7a	A	T	5: 123,499,265 (GRCm39)	N95Y	probably damaging	Het
Cblb	A	G	16: 51,973,031 (GRCm39)	D454G	possibly damaging	Het
Cc2d2a	A	T	5: 43,887,249 (GRCm39)	Q1226H	probably benign	Het
Cct5	A	G	15: 31,598,161 (GRCm39)	S13P	possibly damaging	Het
Clca3a1	C	T	3: 144,710,738 (GRCm39)	E822K	probably benign	Het
Csgalnact2	A	T	6: 118,103,277 (GRCm39)	D228E	probably damaging	Het
Dipk1b	T	C	2: 26,524,887 (GRCm39)	S96P	probably damaging	Het
Dysf	A	G	6: 84,083,806 (GRCm39)	D736G	probably benign	Het
Exog	G	T	9: 119,291,817 (GRCm39)	D365Y	probably damaging	Het
Fam222b	T	G	11: 78,045,066 (GRCm39)	V81G	probably benign	Het
Fbl	A	G	7: 27,878,411 (GRCm39)	E301G	probably damaging	Het
Fez1	A	T	9: 36,755,228 (GRCm39)	N76Y	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
H2-Q4	T	A	17: 35,598,901 (GRCm39)	F57Y	probably damaging	Het
Ift88	T	C	14: 57,718,965 (GRCm39)	I650T	possibly damaging	Het
Kif1b	A	T	4: 149,354,346 (GRCm39)	D231E	possibly damaging	Het
Lig4	A	T	8: 10,022,021 (GRCm39)	D586E	probably benign	Het
Mlc1	C	A	15: 88,858,769 (GRCm39)	L126F	probably damaging	Het
Muc4	A	G	16: 32,754,253 (GRCm38)	T1376A	probably benign	Het
Ncoa6	A	T	2: 155,279,817 (GRCm39)	D66E	possibly damaging	Het
Or6ae1	A	G	7: 139,742,185 (GRCm39)	V226A	probably damaging	Het
Or8b44	C	T	9: 38,410,036 (GRCm39)	Q24*	probably null	Het
Pard6a	T	C	8: 106,429,546 (GRCm39)	V168A	probably damaging	Het
Pmpcb	A	G	5: 21,947,786 (GRCm39)	N163S	possibly damaging	Het
Pramel27	A	T	4: 143,577,263 (GRCm39)	E15V	possibly damaging	Het
Prdm2	C	T	4: 142,860,107 (GRCm39)	C1061Y	probably benign	Het
Prkdc	A	G	16: 15,627,476 (GRCm39)	Y3378C	probably damaging	Het
Sema6a	A	T	18: 47,415,015 (GRCm39)	V425E	probably damaging	Het
Sema7a	A	T	9: 57,867,566 (GRCm39)	E439D	possibly damaging	Het
Serpinf1	T	A	11: 75,301,010 (GRCm39)	T402S	possibly damaging	Het
Sf3a2	T	C	10: 80,640,410 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,321,545 (GRCm39)	S1346T	probably benign	Het
Smchd1	A	T	17: 71,762,722 (GRCm39)	D172E	probably damaging	Het
Spag5	T	G	11: 78,194,906 (GRCm39)	I71S	probably benign	Het
Spata31d1d	G	A	13: 59,874,214 (GRCm39)	A1107V	probably benign	Het
Svep1	A	C	4: 58,070,537 (GRCm39)	S2416R	probably benign	Het
Tbc1d9	A	G	8: 83,969,221 (GRCm39)	Y503C	probably damaging	Het
Tlr9	A	T	9: 106,101,938 (GRCm39)	I410F	possibly damaging	Het
Tmem87a	C	A	2: 120,199,787 (GRCm39)	L452F	probably benign	Het
Tmprss11d	A	T	5: 86,454,154 (GRCm39)	M217K	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vmn2r80	T	C	10: 78,984,755 (GRCm39)	Y36H	probably benign	Het
Vmn2r87	A	T	10: 130,315,817 (GRCm39)	F83Y	probably damaging	Het
Vmp1	C	T	11: 86,554,388 (GRCm39)	R75H	probably benign	Het
Wapl	T	A	14: 34,413,863 (GRCm39)	Y242N	possibly damaging	Het
Zfp473	T	A	7: 44,391,156 (GRCm39)	D6V	probably benign	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
R4303:Defb12	UTSW	8	19,162,737 (GRCm39)	missense	probably benign
R5377:Defb12	UTSW	8	19,164,342 (GRCm39)	critical splice donor site	probably null
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'- TGGCTCTTAGGAAACATGAGTGG -3'
(R):5'- CAAGGTTATTACCCACTGCCC -3'

Sequencing Primer
(F):5'- CTCTTAGGAAACATGAGTGGAGATCC -3'
(R):5'- CCAGCTCTTGATCCTGGCAAATG -3'

Posted On

2016-11-08