Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03370:Defb26'

420254

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb26

Ensembl Gene

ENSMUSG00000074680

Gene Name

defensin beta 26

Synonyms

EG654457

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL03370

Quality Score

Status

Chromosome

Chromosomal Location

152349718-152353612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152349902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

Ref Sequence

ENSEMBL: ENSMUSP00000096811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099205]

AlphaFold

Q30KN7

Predicted Effect

probably benign
Transcript: ENSMUST00000099205
AA Change: V126A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096811
Gene: ENSMUSG00000074680
AA Change: V126A

Domain	Start	End	E-Value	Type
Pfam:Defensin_beta_2	28	58	2.7e-10	PFAM
internal_repeat_1	101	133	1.35e-13	PROSPERO
internal_repeat_1	129	161	1.35e-13	PROSPERO
low complexity region	162	168	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	G	4: 56,741,173 (GRCm39)	Y62H	probably damaging	Het
Cfap52	A	G	11: 67,829,881 (GRCm39)	I296T	probably damaging	Het
Col14a1	A	G	15: 55,351,937 (GRCm39)		probably null	Het
Daam2	G	T	17: 49,793,529 (GRCm39)	D329E	probably benign	Het
Fasn	A	T	11: 120,703,621 (GRCm39)	I1535N	possibly damaging	Het
Fbxw15	A	T	9: 109,384,219 (GRCm39)	Y431N	probably benign	Het
Fbxw26	T	G	9: 109,575,087 (GRCm39)	I13L	probably damaging	Het
Fggy	A	T	4: 95,710,301 (GRCm39)	H300L	probably damaging	Het
Fndc3c1	G	A	X: 105,464,307 (GRCm39)	T1277I	probably benign	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Kif26b	G	A	1: 178,742,946 (GRCm39)	R567H	probably benign	Het
Kpna6	G	A	4: 129,549,314 (GRCm39)	T156M	probably damaging	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Lyn	T	C	4: 3,780,931 (GRCm39)	Y357H	possibly damaging	Het
Mki67	A	G	7: 135,297,219 (GRCm39)	V2605A	probably benign	Het
Mtmr3	T	C	11: 4,437,385 (GRCm39)	D1023G	probably damaging	Het
Muc5b	G	T	7: 141,418,514 (GRCm39)	R3820L	probably benign	Het
Mus81	A	G	19: 5,534,991 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,230,653 (GRCm39)	Y1397C	possibly damaging	Het
Pgd	A	T	4: 149,249,685 (GRCm39)	V29D	probably damaging	Het
Plch2	T	C	4: 155,071,371 (GRCm39)	S244G	probably benign	Het
Rapgef5	C	A	12: 117,694,294 (GRCm39)	T372K	probably damaging	Het
Rb1	A	G	14: 73,520,306 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,586,944 (GRCm39)	V2680E	possibly damaging	Het
Sgsm3	A	C	15: 80,895,855 (GRCm39)		probably null	Het
Slc38a1	C	T	15: 96,477,228 (GRCm39)	V362I	possibly damaging	Het
Sun1	T	A	5: 139,216,886 (GRCm39)	D308E	probably damaging	Het
Tns1	C	T	1: 74,025,053 (GRCm39)	V387M	probably damaging	Het
Ttn	C	A	2: 76,582,083 (GRCm39)	G22937C	probably damaging	Het
Ubr1	C	A	2: 120,725,641 (GRCm39)	A1258S	probably benign	Het
Vmn2r74	A	G	7: 85,607,265 (GRCm39)	F153L	probably benign	Het

Other mutations in Defb26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02342:Defb26	APN	2	152,350,121 (GRCm39)	missense	possibly damaging	0.71
R0078:Defb26	UTSW	2	152,349,988 (GRCm39)	missense	possibly damaging	0.70
R0306:Defb26	UTSW	2	152,349,888 (GRCm39)	missense	unknown
R1351:Defb26	UTSW	2	152,349,737 (GRCm39)	missense	unknown
R1935:Defb26	UTSW	2	152,350,195 (GRCm39)	missense	possibly damaging	0.85
R1936:Defb26	UTSW	2	152,350,195 (GRCm39)	missense	possibly damaging	0.85
R4604:Defb26	UTSW	2	152,350,104 (GRCm39)	missense	possibly damaging	0.53
R4888:Defb26	UTSW	2	152,350,085 (GRCm39)	missense	possibly damaging	0.72
R5121:Defb26	UTSW	2	152,350,085 (GRCm39)	missense	possibly damaging	0.72
R5262:Defb26	UTSW	2	152,349,878 (GRCm39)	missense	unknown
R5720:Defb26	UTSW	2	152,350,122 (GRCm39)	missense	possibly damaging	0.71
R6257:Defb26	UTSW	2	152,349,860 (GRCm39)	missense	unknown
R7902:Defb26	UTSW	2	152,350,156 (GRCm39)	nonsense	probably null
Z1176:Defb26	UTSW	2	152,350,221 (GRCm39)	critical splice acceptor site	probably null

Posted On

2016-08-02