Mutagenetix > Incidental Mutation

Incidental Mutation 'R2914:Defb12'

254804

Institutional Source

Beutler Lab

Gene Symbol

Defb12

Ensembl Gene

ENSMUSG00000043787

Gene Name

defensin beta 12

Synonyms

mBD-12, 9230103N16Rik

MMRRC Submission

040501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R2914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19161947-19164850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19164830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 3 (N3D)

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: N3D

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

SMART Domains

Protein: ENSMUSP00000060899
Gene: ENSMUSG00000043787
AA Change: N3D

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	A	G	5: 30,401,992 (GRCm39)	S679P	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cryl1	T	C	14: 57,513,375 (GRCm39)	E282G	probably benign	Het
Dbn1	A	G	13: 55,630,234 (GRCm39)	F45L	probably damaging	Het
Dclre1b	T	C	3: 103,715,430 (GRCm39)	M105V	probably damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fa2h	T	C	8: 112,120,281 (GRCm39)	D35G	probably damaging	Het
Fdxacb1	C	T	9: 50,679,699 (GRCm39)	A39V	probably benign	Het
Fras1	G	A	5: 96,881,774 (GRCm39)	R2502K	probably benign	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
Il27ra	T	A	8: 84,758,242 (GRCm39)		probably benign	Het
Lrrtm1	A	T	6: 77,221,962 (GRCm39)	Q473L	probably damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Mael	A	T	1: 166,054,179 (GRCm39)	F188I	probably damaging	Het
Mapk4	C	T	18: 74,068,236 (GRCm39)	A232T	probably benign	Het
Mrpl9	C	A	3: 94,351,108 (GRCm39)	T96K	probably damaging	Het
Musk	C	A	4: 58,366,938 (GRCm39)	L511I	probably damaging	Het
Mutyh	G	A	4: 116,672,826 (GRCm39)	D60N	probably damaging	Het
Nckap5	A	T	1: 125,954,274 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Otud7b	C	A	3: 96,063,272 (GRCm39)	A837E	probably benign	Het
Pigb	A	T	9: 72,947,060 (GRCm39)		probably null	Het
Pip4k2b	G	T	11: 97,613,260 (GRCm39)	N245K	probably benign	Het
Ptprd	T	A	4: 75,865,338 (GRCm39)	D1464V	probably damaging	Het
Rab22a	A	G	2: 173,537,074 (GRCm39)	N98S	probably benign	Het
Rictor	G	T	15: 6,799,476 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,844,711 (GRCm39)	E32G	probably damaging	Het
Slx4ip	A	G	2: 136,909,511 (GRCm39)		probably null	Het
Snx19	G	A	9: 30,344,828 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Tmod1	A	T	4: 46,092,259 (GRCm39)	N203I	probably damaging	Het
Tmprss15	T	C	16: 78,759,078 (GRCm39)	N880S	probably benign	Het
Ttn	A	T	2: 76,599,979 (GRCm39)	I19065N	probably damaging	Het
Txk	T	C	5: 72,881,794 (GRCm39)	N154S	probably damaging	Het
Utp20	A	G	10: 88,590,337 (GRCm39)		probably null	Het
Vmn1r65	T	A	7: 6,012,040 (GRCm39)	I65F	possibly damaging	Het
Yes1	T	C	5: 32,797,926 (GRCm39)	S82P	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
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
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'- TGGAGATCCAAGAAATCTCTGG -3'
(R):5'- AGAAGTAAGGCTTTGCAGGC -3'

Sequencing Primer
(F):5'- CTCTGGGGAGAGGAGAGTTACTC -3'
(R):5'- AGGCTCAAGGTTATTACCCACTG -3'

Posted On

2014-12-29