Mutagenetix > Incidental Mutation

Incidental Mutation 'R0370:Defa26'

30431

Institutional Source

Beutler Lab

Gene Symbol

Defa26

Ensembl Gene

ENSMUSG00000060070

Gene Name

defensin, alpha, 26

Synonyms

Defcr26

MMRRC Submission

038576-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R0370 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22108199-22108988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22108875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 87 (M87L)

Ref Sequence

ENSEMBL: ENSMUSP00000073950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074343]

AlphaFold

Q3L180

Predicted Effect

probably benign
Transcript: ENSMUST00000074343
AA Change: M87L

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

SMART Domains

Protein: ENSMUSP00000073950
Gene: ENSMUSG00000060070
AA Change: M87L

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	1.9e-24	PFAM
DEFSN	64	92	1.57e-8	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	T	C	8: 124,228,293 (GRCm39)	S666P	probably damaging	Het
B3gntl1	A	T	11: 121,514,980 (GRCm39)	W263R	probably damaging	Het
Carmil3	A	G	14: 55,732,899 (GRCm39)	N270S	possibly damaging	Het
Ctdp1	T	C	18: 80,492,569 (GRCm39)	E642G	probably damaging	Het
Cyp2b9	A	T	7: 25,909,531 (GRCm39)	K433M	probably damaging	Het
Dcc	A	G	18: 71,721,056 (GRCm39)	V435A	possibly damaging	Het
Dnah11	T	A	12: 117,958,962 (GRCm39)	I2974L	probably benign	Het
Dnah3	T	C	7: 119,685,943 (GRCm39)	D131G	possibly damaging	Het
Dock6	A	T	9: 21,725,861 (GRCm39)	S1447R	probably benign	Het
Dtl	G	T	1: 191,307,462 (GRCm39)	N17K	probably benign	Het
Grid2	A	G	6: 64,322,718 (GRCm39)	I573V	possibly damaging	Het
Hoxa9	T	C	6: 52,202,684 (GRCm39)	E134G	possibly damaging	Het
Kcnn3	A	T	3: 89,574,399 (GRCm39)	N637I	probably damaging	Het
Ktn1	T	C	14: 47,901,532 (GRCm39)	F97L	probably benign	Het
Lmbrd2	T	C	15: 9,165,939 (GRCm39)	I271T	probably damaging	Het
Lrp6	A	C	6: 134,456,729 (GRCm39)	I845S	probably damaging	Het
Med13l	T	A	5: 118,879,891 (GRCm39)	N994K	probably benign	Het
Mrrf	A	T	2: 36,067,125 (GRCm39)		probably null	Het
Mtmr1	G	A	X: 70,431,837 (GRCm39)	V125I	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Or13g1	T	A	7: 85,956,057 (GRCm39)	N88I	probably benign	Het
Or51k1	T	G	7: 103,661,266 (GRCm39)	L214F	probably damaging	Het
Or8k3	A	T	2: 86,059,057 (GRCm39)	V86D	probably damaging	Het
Paxip1	C	A	5: 27,965,084 (GRCm39)	V659F	probably damaging	Het
Pclo	T	C	5: 14,571,104 (GRCm39)	V163A	probably damaging	Het
Pkn3	T	A	2: 29,977,184 (GRCm39)	H641Q	probably damaging	Het
Plekhg6	G	A	6: 125,347,623 (GRCm39)	R444C	probably damaging	Het
Rfx2	T	C	17: 57,106,308 (GRCm39)	E175G	probably benign	Het
Samd9l	A	C	6: 3,377,264 (GRCm39)		probably benign	Het
Sec14l5	A	T	16: 4,998,570 (GRCm39)	T537S	probably damaging	Het
Serpinb9d	A	G	13: 33,379,949 (GRCm39)	E96G	probably damaging	Het
Setd4	T	C	16: 93,388,006 (GRCm39)	E160G	probably damaging	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Slc16a4	A	G	3: 107,208,413 (GRCm39)	I308V	possibly damaging	Het
Slco2b1	T	A	7: 99,339,644 (GRCm39)	N100Y	probably damaging	Het
Sptbn1	A	T	11: 30,071,545 (GRCm39)	S1475R	probably benign	Het
Tecta	T	C	9: 42,278,100 (GRCm39)	D1136G	probably benign	Het
Tmem94	G	C	11: 115,679,543 (GRCm39)	R273S	probably damaging	Het
Tns3	A	G	11: 8,395,730 (GRCm39)	S1225P	possibly damaging	Het
Ugt2b36	A	G	5: 87,239,834 (GRCm39)	Y184H	probably benign	Het
Vmn2r59	A	T	7: 41,662,150 (GRCm39)	M555K	probably benign	Het

Other mutations in Defa26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03230:Defa26	APN	8	22,108,314 (GRCm39)	missense	probably damaging	1.00
IGL03255:Defa26	APN	8	22,108,257 (GRCm39)	missense	probably damaging	1.00
R6539:Defa26	UTSW	8	22,108,262 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TCCTGGTAGAGTAATGTGGCTCCC -3'
(R):5'- TCAAAGACAGGAGCAGCTTATGTGC -3'

Sequencing Primer
(F):5'- AGTAATGTGGCTCCCTTAGCAAC -3'
(R):5'- TGTCTGAACATGGAGTCATCC -3'

Posted On

2013-04-24