Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02342:Defb26'

289142

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 #

IGL02342

Quality Score

Status

Chromosome

Chromosomal Location

152349718-152353612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152350121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 53 (N53S)

Ref Sequence

ENSEMBL: ENSMUSP00000096811 (fasta)

Gene Model

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

AlphaFold

Q30KN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099205
AA Change: N53S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096811
Gene: ENSMUSG00000074680
AA Change: N53S

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	C	A	10: 43,050,997 (GRCm39)	P97Q	probably damaging	Het
Abcb10	A	T	8: 124,688,773 (GRCm39)	V501E	probably damaging	Het
Acsf3	T	C	8: 123,544,237 (GRCm39)	Y572H	probably benign	Het
Adamts3	A	T	5: 89,839,332 (GRCm39)		probably null	Het
Alox8	A	G	11: 69,077,053 (GRCm39)	L480P	probably damaging	Het
Arhgap35	G	A	7: 16,296,305 (GRCm39)	T920I	probably benign	Het
Brca2	C	A	5: 150,466,289 (GRCm39)	L2018M	possibly damaging	Het
Brdt	C	A	5: 107,490,069 (GRCm39)	H45N	probably damaging	Het
C1s2	A	G	6: 124,609,075 (GRCm39)	F155L	probably damaging	Het
Ccser2	A	G	14: 36,640,562 (GRCm39)		probably benign	Het
Cd8a	T	A	6: 71,350,723 (GRCm39)	C63S	probably damaging	Het
Clk2	A	T	3: 89,082,998 (GRCm39)	T424S	probably benign	Het
Cntn1	A	G	15: 92,143,898 (GRCm39)	E287G	probably benign	Het
Cobl	A	C	11: 12,203,672 (GRCm39)	V928G	possibly damaging	Het
Col12a1	A	G	9: 79,557,178 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,766,633 (GRCm39)		probably null	Het
Duox1	A	T	2: 122,177,793 (GRCm39)	T1526S	probably damaging	Het
Dync2h1	A	G	9: 7,142,246 (GRCm39)	L1233P	probably damaging	Het
Eif5a2	A	G	3: 28,847,910 (GRCm39)	E116G	possibly damaging	Het
Garin1b	A	G	6: 29,323,829 (GRCm39)	T185A	possibly damaging	Het
Gdap2	G	A	3: 100,085,632 (GRCm39)	A185T	probably damaging	Het
Grm8	T	C	6: 27,363,803 (GRCm39)	R571G	probably benign	Het
Hjv	G	A	3: 96,435,488 (GRCm39)	D249N	possibly damaging	Het
Hsp90b1	T	C	10: 86,531,603 (GRCm39)		probably null	Het
Ift70a1	G	T	2: 75,810,976 (GRCm39)	T369K	probably benign	Het
Ighv1-75	T	G	12: 115,797,878 (GRCm39)		probably benign	Het
Ikzf1	A	G	11: 11,650,216 (GRCm39)		probably benign	Het
Itprid2	A	G	2: 79,490,629 (GRCm39)	N943S	probably benign	Het
Kdm4d	A	G	9: 14,374,860 (GRCm39)	W333R	probably damaging	Het
Lama3	A	T	18: 12,624,533 (GRCm39)	N1426I	probably damaging	Het
Lmbrd1	A	G	1: 24,743,959 (GRCm39)	Y119C	probably damaging	Het
Mctp1	A	G	13: 77,172,976 (GRCm39)	Y884C	probably damaging	Het
Naip6	G	T	13: 100,439,748 (GRCm39)	P340T	possibly damaging	Het
Nfkbib	G	T	7: 28,461,528 (GRCm39)	H70N	probably damaging	Het
Nol4	A	T	18: 22,903,926 (GRCm39)		probably benign	Het
Obscn	C	T	11: 58,891,914 (GRCm39)	A6873T	probably benign	Het
Or2ag1	A	G	7: 106,313,232 (GRCm39)	S219P	probably benign	Het
Or51b4	T	A	7: 103,530,587 (GRCm39)	I288F	probably benign	Het
Or6x1	T	A	9: 40,098,823 (GRCm39)	N137K	probably benign	Het
Paqr6	A	G	3: 88,273,491 (GRCm39)	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,710,493 (GRCm39)	D274V	probably damaging	Het
Phip	A	G	9: 82,768,745 (GRCm39)	Y1196H	probably damaging	Het
Prc1	T	C	7: 79,959,190 (GRCm39)	L345S	probably damaging	Het
Smpdl3a	A	G	10: 57,685,276 (GRCm39)		probably benign	Het
Tac1	G	T	6: 7,559,119 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,198,624 (GRCm39)	S1319T	possibly damaging	Het
Tg	A	G	15: 66,636,140 (GRCm39)	T576A	probably benign	Het
Thbs2	A	T	17: 14,896,578 (GRCm39)	D770E	probably damaging	Het
Tmem117	T	C	15: 94,909,331 (GRCm39)	V248A	possibly damaging	Het
Trpm8	T	C	1: 88,255,972 (GRCm39)	I209T	possibly damaging	Het
Wrap53	A	G	11: 69,454,417 (GRCm39)	F244L	probably damaging	Het
Wrap73	A	T	4: 154,233,237 (GRCm39)	Q137L	probably benign	Het
Zfhx4	A	T	3: 5,467,434 (GRCm39)	T2531S	probably benign	Het

Other mutations in Defb26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03370:Defb26	APN	2	152,349,902 (GRCm39)	missense	probably benign	0.12
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

2015-04-16