Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03112:Defb48'

419252

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defb48

Ensembl Gene

ENSMUSG00000075574

Gene Name

defensin beta 48

Synonyms

EG432867

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03112

Quality Score

Status

Chromosome

Chromosomal Location

63214974-63221959 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 63221854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100493]

AlphaFold

Q3UW22

Predicted Effect

probably benign
Transcript: ENSMUST00000100493

SMART Domains

Protein: ENSMUSP00000098062
Gene: ENSMUSG00000075574

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
DEFSN	31	60	6.29e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	C	8: 43,974,549 (GRCm39)	N151S	probably benign	Het
Adgre1	G	A	17: 57,755,029 (GRCm39)		probably null	Het
Apol11a	T	A	15: 77,401,509 (GRCm39)	L332Q	probably damaging	Het
B430306N03Rik	C	T	17: 48,623,834 (GRCm39)	S45L	probably benign	Het
Cend1	G	A	7: 141,007,640 (GRCm39)	T60M	probably benign	Het
Col6a3	C	A	1: 90,739,242 (GRCm39)	E329*	probably null	Het
Col9a3	A	G	2: 180,249,435 (GRCm39)	R266G	possibly damaging	Het
Eps8l2	T	G	7: 140,941,649 (GRCm39)	L640R	probably damaging	Het
Exoc2	T	A	13: 31,090,570 (GRCm39)		probably benign	Het
Fam149a	C	T	8: 45,801,580 (GRCm39)	V514M	possibly damaging	Het
Fbxo25	A	T	8: 13,971,034 (GRCm39)	D74V	probably benign	Het
Gm11733	A	G	11: 117,377,966 (GRCm39)	*126W	probably null	Het
Grm8	C	T	6: 27,363,262 (GRCm39)	C751Y	probably damaging	Het
Kctd16	A	T	18: 40,391,853 (GRCm39)	D147V	probably benign	Het
Lclat1	A	T	17: 73,546,742 (GRCm39)	T220S	probably damaging	Het
Lgi1	T	A	19: 38,272,478 (GRCm39)	H116Q	possibly damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Lsm4	T	A	8: 71,130,656 (GRCm39)	I60N	probably damaging	Het
Morn1	T	A	4: 155,177,601 (GRCm39)	Y178N	probably damaging	Het
Mybl2	A	G	2: 162,904,456 (GRCm39)	E89G	probably damaging	Het
Myo18b	T	C	5: 113,021,856 (GRCm39)	E512G	probably benign	Het
Myrfl	A	T	10: 116,639,311 (GRCm39)	S583T	probably benign	Het
Nek6	A	G	2: 38,450,914 (GRCm39)	I106V	probably damaging	Het
Oas1a	A	T	5: 121,036,412 (GRCm39)	D338E	possibly damaging	Het
Or10ag52	T	A	2: 87,043,944 (GRCm39)	I236N	probably damaging	Het
Or4a76	G	A	2: 89,460,678 (GRCm39)	T188I	probably benign	Het
Or6c1	A	G	10: 129,517,792 (GRCm39)	V272A	probably benign	Het
Pitrm1	C	A	13: 6,615,044 (GRCm39)	Q508K	probably benign	Het
S100b	A	G	10: 76,095,808 (GRCm39)	D62G	probably damaging	Het
Sesn3	A	G	9: 14,221,557 (GRCm39)	H119R	probably damaging	Het
Sez6l	T	A	5: 112,621,333 (GRCm39)	E247V	probably damaging	Het
Shoc1	G	T	4: 59,049,355 (GRCm39)	Q1069K	probably benign	Het
Shq1	C	A	6: 100,550,574 (GRCm39)	E455*	probably null	Het
Slc9b1	T	A	3: 135,103,433 (GRCm39)	M521K	probably damaging	Het
Supt16	A	G	14: 52,413,855 (GRCm39)	F543L	probably damaging	Het
Tcf25	T	C	8: 124,109,258 (GRCm39)		probably benign	Het
Usp48	C	A	4: 137,335,375 (GRCm39)	Q183K	probably damaging	Het
Vmn1r178	G	A	7: 23,593,086 (GRCm39)	G45S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,368 (GRCm39)	Y30*	probably null	Het

Other mutations in Defb48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4803:Defb48	UTSW	14	63,221,906 (GRCm39)	missense	unknown
R7526:Defb48	UTSW	14	63,215,280 (GRCm39)	missense	possibly damaging	0.45

Posted On

2016-08-02