Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02639:Defa29'

301647

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defa29

Ensembl Gene

ENSMUSG00000074437

Gene Name

defensin, alpha, 29

Synonyms

CRS1C-2, 2010319H24Rik, 2010300L12Rik, Defa-rs1, Defcr-rs1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

21815904-21817034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21816137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 77 (C77R)

Ref Sequence

ENSEMBL: ENSMUSP00000096489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098890]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098890
AA Change: C77R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096489
Gene: ENSMUSG00000074437
AA Change: C77R

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	2.9e-26	PFAM
low complexity region	65	93	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179812

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
4930447A16Rik	C	T	15: 37,430,048 (GRCm39)	R71*	probably null	Het
Abca5	A	T	11: 110,178,899 (GRCm39)	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 100,946,344 (GRCm39)	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,491,540 (GRCm39)	M675T	probably damaging	Het
Baz1a	A	G	12: 54,942,810 (GRCm39)		probably benign	Het
Cd5l	T	C	3: 87,275,813 (GRCm39)	V261A	probably damaging	Het
Copb1	A	G	7: 113,825,830 (GRCm39)		probably benign	Het
Cul5	T	C	9: 53,566,642 (GRCm39)	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,546,986 (GRCm39)	Q176L	probably benign	Het
Ddo	A	G	10: 40,523,733 (GRCm39)	D241G	probably damaging	Het
Dpp4	T	C	2: 62,182,584 (GRCm39)	N566D	probably benign	Het
Eif1ad14	G	T	12: 87,886,269 (GRCm39)	T120K	probably benign	Het
Emilin2	T	C	17: 71,581,544 (GRCm39)	D394G	probably benign	Het
Fbf1	T	C	11: 116,043,426 (GRCm39)	E461G	probably benign	Het
Fgfr2	A	G	7: 129,830,532 (GRCm39)		probably benign	Het
Fibcd1	G	A	2: 31,707,162 (GRCm39)	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,811,797 (GRCm39)	H344Q	probably benign	Het
Fnip1	T	A	11: 54,366,466 (GRCm39)	C52*	probably null	Het
Fto	T	A	8: 92,136,156 (GRCm39)	N143K	probably damaging	Het
Hells	G	T	19: 38,926,873 (GRCm39)	L84F	probably damaging	Het
Hydin	G	A	8: 111,265,081 (GRCm39)	V2755I	probably benign	Het
Irgq	C	A	7: 24,230,887 (GRCm39)	A26E	probably damaging	Het
Katnip	A	G	7: 125,471,964 (GRCm39)	I1518V	probably damaging	Het
Klhl29	A	T	12: 5,187,453 (GRCm39)	Y304N	probably damaging	Het
Muc6	T	C	7: 141,235,843 (GRCm39)		probably benign	Het
Myo15a	T	C	11: 60,369,447 (GRCm39)	F736L	probably benign	Het
Nynrin	G	T	14: 56,108,112 (GRCm39)	W1073L	probably damaging	Het
Or10h28	G	A	17: 33,488,369 (GRCm39)	V224M	possibly damaging	Het
Or10w1	A	T	19: 13,631,960 (GRCm39)	T51S	possibly damaging	Het
Or14c46	A	T	7: 85,918,928 (GRCm39)	I23N	probably damaging	Het
Or14j10	A	T	17: 37,934,878 (GRCm39)	I216N	probably benign	Het
Or1e29	A	T	11: 73,667,371 (GRCm39)	C261S	probably benign	Het
Or51a10	C	A	7: 103,698,988 (GRCm39)	C191F	probably damaging	Het
Or52e8b	T	A	7: 104,673,429 (GRCm39)	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,329 (GRCm39)	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pola2	A	G	19: 6,003,802 (GRCm39)	V191A	probably benign	Het
Slc22a8	A	T	19: 8,571,323 (GRCm39)	Y18F	probably benign	Het
Slc26a5	C	T	5: 22,024,765 (GRCm39)	V440M	probably damaging	Het

Other mutations in Defa29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01644:Defa29	APN	8	21,816,137 (GRCm39)	missense	possibly damaging	0.53
IGL03159:Defa29	APN	8	21,816,978 (GRCm39)	missense	possibly damaging	0.89
FR4342:Defa29	UTSW	8	21,816,160 (GRCm39)	missense	probably benign
R1912:Defa29	UTSW	8	21,816,028 (GRCm39)	missense	possibly damaging	0.66
R1932:Defa29	UTSW	8	21,816,865 (GRCm39)	missense	probably damaging	0.96
R7261:Defa29	UTSW	8	21,816,818 (GRCm39)	critical splice donor site	probably null
R7999:Defa29	UTSW	8	21,816,859 (GRCm39)	missense	probably benign	0.32
R8100:Defa29	UTSW	8	21,816,990 (GRCm39)	start codon destroyed	probably null	0.05
R8412:Defa29	UTSW	8	21,816,062 (GRCm39)	missense	probably benign
R8503:Defa29	UTSW	8	21,815,903 (GRCm39)	splice site	probably benign
R9471:Defa29	UTSW	8	21,816,901 (GRCm39)	missense	possibly damaging	0.71

Posted On

2015-04-16