Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01107:Defa22'

278180

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defa22

Ensembl Gene

ENSMUSG00000074443

Gene Name

defensin, alpha, 22

Synonyms

Defcr22

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.046) question?

Stock #

IGL01107

Quality Score

Status

Chromosome

Chromosomal Location

21652293-21653265 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 21653053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098897] [ENSMUST00000098897] [ENSMUST00000098897] [ENSMUST00000098897]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000098897

SMART Domains

Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	4.1e-26	PFAM
DEFSN	64	89	1.46e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000098897

SMART Domains

Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	4.1e-26	PFAM
DEFSN	64	89	1.46e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000098897

SMART Domains

Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	4.1e-26	PFAM
DEFSN	64	89	1.46e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000098897

SMART Domains

Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	4.1e-26	PFAM
DEFSN	64	89	1.46e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,687,948 (GRCm39)	F215Y	probably damaging	Het
2700049A03Rik	T	C	12: 71,241,242 (GRCm39)		probably null	Het
Akip1	C	T	7: 109,311,045 (GRCm39)	T195M	probably damaging	Het
Arhgef16	T	C	4: 154,364,701 (GRCm39)	N631S	probably benign	Het
Brat1	C	T	5: 140,702,932 (GRCm39)	S544L	probably damaging	Het
Cfap65	C	T	1: 74,958,342 (GRCm39)		probably null	Het
Dnajc4	C	T	19: 6,966,869 (GRCm39)	R153H	probably benign	Het
Dusp11	A	G	6: 85,929,352 (GRCm39)		probably benign	Het
E2f4	T	A	8: 106,030,809 (GRCm39)		probably benign	Het
Ece1	T	A	4: 137,665,969 (GRCm39)	L271Q	probably damaging	Het
Fcgrt	T	C	7: 44,742,752 (GRCm39)	D343G	probably damaging	Het
Igsf10	T	C	3: 59,238,945 (GRCm39)	E412G	probably damaging	Het
Il4ra	G	T	7: 125,175,086 (GRCm39)	L431F	possibly damaging	Het
Ilrun	A	T	17: 28,005,043 (GRCm39)		probably null	Het
Krt86	T	A	15: 101,373,306 (GRCm39)	L200Q	probably damaging	Het
Lpcat1	T	A	13: 73,642,947 (GRCm39)	F126I	probably damaging	Het
Prag1	A	G	8: 36,567,085 (GRCm39)	T79A	probably benign	Het
Pramel13	A	T	4: 144,119,664 (GRCm39)	I301N	probably benign	Het
Psg29	G	T	7: 16,938,850 (GRCm39)	L41F	probably benign	Het
Rai14	C	T	15: 10,599,797 (GRCm39)		probably benign	Het
Reg3a	A	G	6: 78,360,228 (GRCm39)	D136G	probably benign	Het
Rif1	A	G	2: 52,001,315 (GRCm39)	T1590A	probably benign	Het
Rorb	A	T	19: 18,934,692 (GRCm39)	L300*	probably null	Het
Sin3b	T	C	8: 73,457,733 (GRCm39)	C150R	possibly damaging	Het
Smarcc1	C	A	9: 110,051,005 (GRCm39)	H942N	probably damaging	Het
Tas2r105	A	G	6: 131,664,074 (GRCm39)	V118A	probably benign	Het
Tmem131	T	C	1: 36,868,662 (GRCm39)	S388G	probably damaging	Het
Ttll9	C	A	2: 152,844,809 (GRCm39)		probably benign	Het
Ush1c	A	G	7: 45,859,325 (GRCm39)	L498P	probably damaging	Het
Vmn2r100	A	G	17: 19,741,618 (GRCm39)	Y110C	probably damaging	Het
Zbtb11	T	C	16: 55,826,370 (GRCm39)	Y800H	probably damaging	Het
Zdhhc20	T	A	14: 58,103,046 (GRCm39)	E101V	probably damaging	Het

Other mutations in Defa22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Defa22	APN	8	21,653,053 (GRCm39)	splice site	probably null
IGL01155:Defa22	APN	8	21,653,053 (GRCm39)	splice site	probably null
IGL02142:Defa22	APN	8	21,653,130 (GRCm39)	missense	possibly damaging	0.93
P0047:Defa22	UTSW	8	21,653,102 (GRCm39)	nonsense	probably null
PIT4696001:Defa22	UTSW	8	21,652,352 (GRCm39)	missense	probably damaging	0.99
R0738:Defa22	UTSW	8	21,652,391 (GRCm39)	missense	probably benign	0.00
R1266:Defa22	UTSW	8	21,652,384 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16