Mutagenetix > Incidental Mutation

Incidental Mutation 'R5377:Defb12'

425616

Institutional Source

Beutler Lab

Gene Symbol

Defb12

Ensembl Gene

ENSMUSG00000043787

Gene Name

defensin beta 12

Synonyms

mBD-12, 9230103N16Rik

MMRRC Submission

042845-MU

Accession Numbers

Essential gene?

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

Stock #

R5377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19161947-19164850 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 19164342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060899 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000062113

SMART Domains

Protein: ENSMUSP00000060899
Gene: ENSMUSG00000043787

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: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,622,212 (GRCm39)	V372F	probably benign	Het
Adcy10	G	A	1: 165,347,464 (GRCm39)	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,550,669 (GRCm39)	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,540,485 (GRCm39)		probably benign	Het
Akr1a1	A	T	4: 116,497,092 (GRCm39)	V156E	probably damaging	Het
Alk	T	G	17: 72,202,734 (GRCm39)	D1167A	probably damaging	Het
Ankrd11	T	C	8: 123,620,453 (GRCm39)		probably null	Het
Aspm	T	A	1: 139,385,221 (GRCm39)	N288K	probably damaging	Het
Aspm	A	G	1: 139,398,133 (GRCm39)		probably null	Het
Asxl2	G	A	12: 3,524,618 (GRCm39)		probably null	Het
Atp6v0a1	A	G	11: 100,946,413 (GRCm39)	H802R	probably damaging	Het
B4galnt1	A	G	10: 127,007,691 (GRCm39)	T531A	possibly damaging	Het
Cecr2	A	G	6: 120,733,530 (GRCm39)	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,978,839 (GRCm39)	V509A	probably damaging	Het
Cyp4f40	A	T	17: 32,894,590 (GRCm39)	I413F	probably null	Het
Dnah2	T	C	11: 69,312,674 (GRCm39)	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,948,857 (GRCm39)	N371Y	probably damaging	Het
Eef1d	G	T	15: 75,775,038 (GRCm39)	T207N	probably benign	Het
Esrrb	C	T	12: 86,565,783 (GRCm39)	Q416*	probably null	Het
Exd2	T	C	12: 80,536,222 (GRCm39)	L284P	probably damaging	Het
Fat3	T	A	9: 16,287,739 (GRCm39)	I595F	probably benign	Het
Gm9920	A	G	15: 54,972,371 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,084 (GRCm39)	K783E	probably damaging	Het
Irs2	A	G	8: 11,055,277 (GRCm39)	S1052P	probably benign	Het
Kctd18	T	C	1: 58,002,252 (GRCm39)	I192V	probably benign	Het
Lama3	A	G	18: 12,586,803 (GRCm39)	D722G	probably damaging	Het
Lepr	T	C	4: 101,672,216 (GRCm39)	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,613,656 (GRCm39)	G504S	probably damaging	Het
Lrit2	A	C	14: 36,791,140 (GRCm39)	Q273P	possibly damaging	Het
Mlkl	T	A	8: 112,054,569 (GRCm39)	E189D	probably benign	Het
Mttp	C	T	3: 137,810,790 (GRCm39)	R608H	probably benign	Het
Nav2	T	C	7: 49,238,908 (GRCm39)	V2011A	probably benign	Het
Nos2	A	T	11: 78,848,317 (GRCm39)	I1075F	probably benign	Het
Npat	A	G	9: 53,461,336 (GRCm39)		probably null	Het
Nucks1	T	C	1: 131,846,771 (GRCm39)	F16L	probably damaging	Het
Nus1	T	C	10: 52,305,309 (GRCm39)	S150P	possibly damaging	Het
Odad1	C	T	7: 45,591,506 (GRCm39)	R257*	probably null	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or4c123	G	T	2: 89,127,506 (GRCm39)	T36K	probably damaging	Het
Or8b35	A	T	9: 37,903,908 (GRCm39)	Y40F	probably benign	Het
Pclo	A	G	5: 14,731,367 (GRCm39)	T3290A	unknown	Het
Pign	A	T	1: 105,585,537 (GRCm39)	F4Y	probably benign	Het
Rfx4	A	G	10: 84,696,406 (GRCm39)	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,652 (GRCm39)	M1325L	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf11	T	A	15: 96,315,001 (GRCm39)	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,507,076 (GRCm39)	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,118,958 (GRCm39)	L426I	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc34a1	T	C	13: 23,996,575 (GRCm39)	S27P	probably damaging	Het
Tacc1	A	G	8: 25,672,299 (GRCm39)	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084 (GRCm39)	R110C	probably damaging	Het
Trip12	T	C	1: 84,735,152 (GRCm39)	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,684,775 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,644,320 (GRCm39)	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,371,801 (GRCm39)	V140I	probably benign	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,599,531 (GRCm39)	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,509,678 (GRCm39)	V172G	probably benign	Het
Zfhx3	C	T	8: 109,677,817 (GRCm39)	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,716,178 (GRCm39)	L283P	possibly damaging	Het
Zfp82	T	C	7: 29,756,591 (GRCm39)	K164E	probably 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
R4303:Defb12	UTSW	8	19,162,737 (GRCm39)	missense	probably benign
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'- CCCATGTAAGAGAACCTCTGGTG -3'
(R):5'- TTAGTACACTGGTCTTTCTGGC -3'

Sequencing Primer
(F):5'- TGTAAGAGAACCTCTGGTGCACAC -3'
(R):5'- AGTGCTGGTCTTGAGAAACCC -3'

Posted On

2016-08-04