Mutagenetix > Incidental Mutation

Incidental Mutation 'R0657:Defb13'

62574

Institutional Source

Beutler Lab

Gene Symbol

Defb13

Ensembl Gene

ENSMUSG00000044222

Gene Name

defensin beta 13

Synonyms

MMRRC Submission

038842-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0657 (G1)

Quality Score

102

Status

Validated

Chromosome

Chromosomal Location

22436778-22438866 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 22436877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060587]

AlphaFold

Q8R2I4

Predicted Effect

probably benign
Transcript: ENSMUST00000060587

SMART Domains

Protein: ENSMUSP00000060997
Gene: ENSMUSG00000044222

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Defensin_beta	26	59	4.9e-10	PFAM
Pfam:Defensin_beta_2	30	58	1.1e-8	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.3%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Aldh7a1	C	T	18: 56,670,269 (GRCm39)		probably benign	Het
Bfsp1	A	C	2: 143,669,570 (GRCm39)		probably benign	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Chd7	T	C	4: 8,753,141 (GRCm39)	V546A	probably damaging	Het
F13a1	A	T	13: 37,152,079 (GRCm39)	D237E	probably damaging	Het
F8	T	C	X: 74,255,022 (GRCm39)	Q2124R	possibly damaging	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hmgcs2	A	G	3: 98,198,369 (GRCm39)	T91A	probably benign	Het
Huwe1	T	C	X: 150,702,924 (GRCm39)	I3463T	probably benign	Het
Iars1	T	C	13: 49,855,995 (GRCm39)	Y289H	probably damaging	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kif14	C	T	1: 136,396,840 (GRCm39)	T382I	probably benign	Het
Lypd10	T	A	7: 24,412,872 (GRCm39)	D93E	probably benign	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mroh2a	C	A	1: 88,183,287 (GRCm39)	L1292I	probably damaging	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Or1e34	T	C	11: 73,778,611 (GRCm39)	M196V	probably benign	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,661,565 (GRCm39)	V1054A	possibly damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Tars2	A	T	3: 95,655,869 (GRCm39)	V289E	probably benign	Het
Tmem135	A	T	7: 88,793,890 (GRCm39)	I384N	probably damaging	Het
Trip12	C	T	1: 84,736,771 (GRCm39)	M816I	probably benign	Het
Ulk2	T	C	11: 61,698,880 (GRCm39)		probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Defb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0119:Defb13	UTSW	8	22,436,877 (GRCm39)	splice site	probably benign
R8015:Defb13	UTSW	8	22,436,828 (GRCm39)	missense	possibly damaging	0.79
R8329:Defb13	UTSW	8	22,438,562 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCTCAAGGCTGTTTCTGAGCAC -3'
(R):5'- GGAGTGAAGAAGTCCAAATCCCTGC -3'

Sequencing Primer
(F):5'- AGGCTGTTTCTGAGCACTAGAAC -3'
(R):5'- TGACTGGAGAAGTGGCCC -3'

Posted On

2013-07-30