Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00839:Defa24'

10104

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defa24

Ensembl Gene

ENSMUSG00000064213

Gene Name

defensin, alpha, 24

Synonyms

Defcr24

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL00839

Quality Score

Status

Chromosome

Chromosomal Location

22224510-22225487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22224713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 54 (L54H)

Ref Sequence

ENSEMBL: ENSMUSP00000079376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080533]

AlphaFold

Q5G865

Predicted Effect

probably damaging
Transcript: ENSMUST00000080533
AA Change: L54H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079376
Gene: ENSMUSG00000064213
AA Change: L54H

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	3e-26	PFAM
DEFSN	64	92	5.11e-8	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,873 (GRCm39)	S1031T	probably benign	Het
a	T	A	2: 154,887,593 (GRCm39)	F18I	probably benign	Het
Acsl4	A	T	X: 141,122,948 (GRCm39)	N421K	possibly damaging	Het
Ampd1	A	G	3: 103,007,010 (GRCm39)	E745G	possibly damaging	Het
Ankrd44	T	C	1: 54,706,594 (GRCm39)	N436D	probably benign	Het
Ap1s2	A	G	X: 162,709,951 (GRCm39)	Y160C	probably damaging	Het
Bms1	C	T	6: 118,382,252 (GRCm39)	V429M	probably benign	Het
Cep57l1	T	C	10: 41,607,089 (GRCm39)	E158G	probably damaging	Het
Cldn34b4	T	A	X: 75,440,955 (GRCm39)	C71S	probably damaging	Het
Col1a2	C	T	6: 4,531,095 (GRCm39)		probably benign	Het
Crisp3	T	G	17: 40,550,147 (GRCm39)		probably null	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dennd1a	A	G	2: 37,706,994 (GRCm39)	V504A	probably benign	Het
Eloa	G	A	4: 135,738,670 (GRCm39)	R97C	probably damaging	Het
Espl1	T	C	15: 102,228,982 (GRCm39)		probably benign	Het
Fgb	T	A	3: 82,950,598 (GRCm39)	R385S	possibly damaging	Het
Glod4	T	A	11: 76,124,104 (GRCm39)	H223L	probably benign	Het
Hrh1	C	T	6: 114,457,283 (GRCm39)	T188I	probably damaging	Het
Hsph1	G	T	5: 149,541,919 (GRCm39)	A769D	possibly damaging	Het
Jak2	C	T	19: 29,279,047 (GRCm39)	P933S	probably damaging	Het
Lrrd1	T	A	5: 3,900,017 (GRCm39)	D107E	probably benign	Het
Osbpl8	T	A	10: 111,127,371 (GRCm39)	S776R	probably benign	Het
Pcna	C	T	2: 132,093,340 (GRCm39)	V136I	probably benign	Het
Pde11a	A	G	2: 76,045,729 (GRCm39)	F365S	probably damaging	Het
Pi15	A	G	1: 17,691,747 (GRCm39)	H183R	probably damaging	Het
Plce1	A	G	19: 38,687,006 (GRCm39)	Y638C	probably damaging	Het
Pnpla6	A	G	8: 3,592,299 (GRCm39)	D1196G	probably benign	Het
Pramel26	T	C	4: 143,539,293 (GRCm39)	T67A	probably benign	Het
Psg22	A	G	7: 18,456,893 (GRCm39)	I220V	probably benign	Het
Rap1gap2	A	T	11: 74,328,274 (GRCm39)	Y97N	probably damaging	Het
Taf2	A	T	15: 54,909,174 (GRCm39)	C690*	probably null	Het
Taf3	A	T	2: 9,957,728 (GRCm39)	D146E	probably damaging	Het
Tnrc6c	A	G	11: 117,605,011 (GRCm39)	T49A	possibly damaging	Het
Trdn	T	C	10: 33,347,602 (GRCm39)		probably null	Het
Ttc29	C	T	8: 79,060,385 (GRCm39)	T435I	probably benign	Het
Vps37b	T	C	5: 124,148,814 (GRCm39)	T74A	possibly damaging	Het
Zbtb11	T	A	16: 55,820,965 (GRCm39)	Y687*	probably null	Het

Other mutations in Defa24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1705:Defa24	UTSW	8	22,224,617 (GRCm39)	missense	probably damaging	1.00
R4562:Defa24	UTSW	8	22,224,523 (GRCm39)	start gained	probably benign
R5510:Defa24	UTSW	8	22,224,612 (GRCm39)	missense	probably damaging	1.00
R6035:Defa24	UTSW	8	22,224,565 (GRCm39)	missense	probably benign
R6035:Defa24	UTSW	8	22,224,565 (GRCm39)	missense	probably benign
R6301:Defa24	UTSW	8	22,225,299 (GRCm39)	missense	probably benign	0.01
R6435:Defa24	UTSW	8	22,224,690 (GRCm39)	missense	possibly damaging	0.60
R7269:Defa24	UTSW	8	22,224,565 (GRCm39)	missense	probably benign
R7779:Defa24	UTSW	8	22,225,355 (GRCm39)	missense	probably benign
R7890:Defa24	UTSW	8	22,224,556 (GRCm39)	missense	probably damaging	1.00
R8930:Defa24	UTSW	8	22,225,373 (GRCm39)	missense	probably benign	0.01
R8932:Defa24	UTSW	8	22,225,373 (GRCm39)	missense	probably benign	0.01
R9339:Defa24	UTSW	8	22,224,559 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06