Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02938:Defa35'

364440

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Defa35

Ensembl Gene

ENSMUSG00000061845

Gene Name

defensin, alpha, 35

Synonyms

ENSMUSG00000061845, Gm10104, OTTMUSG00000018258

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02938

Quality Score

Status

Chromosome

Chromosomal Location

21555054-21556012 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to T at 21555930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078121]

AlphaFold

E9QLQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000078121

SMART Domains

Protein: ENSMUSP00000077259
Gene: ENSMUSG00000061845

Domain	Start	End	E-Value	Type
Pfam:Defensin_propep	1	51	5.1e-26	PFAM
DEFSN	64	92	2.26e-9	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,180,979 (GRCm39)	T1152A	possibly damaging	Het
Adgra3	T	C	5: 50,118,659 (GRCm39)	D963G	probably benign	Het
Adrm1	T	A	2: 179,817,395 (GRCm39)	D287E	probably damaging	Het
Agxt	A	G	1: 93,072,831 (GRCm39)	D396G	probably damaging	Het
Ankle1	C	T	8: 71,858,896 (GRCm39)	A43V	probably damaging	Het
Apc	A	G	18: 34,448,281 (GRCm39)	I1692V	probably damaging	Het
Arhgef18	T	C	8: 3,500,802 (GRCm39)	V588A	probably benign	Het
Ccdc62	T	A	5: 124,072,247 (GRCm39)	V4E	probably benign	Het
Cdh16	A	T	8: 105,343,561 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,696 (GRCm39)	C276S	probably damaging	Het
Cyp2c29	T	A	19: 39,275,567 (GRCm39)	D2E	probably damaging	Het
Ddx31	T	A	2: 28,749,035 (GRCm39)	V277E	possibly damaging	Het
Dhx9	A	T	1: 153,340,376 (GRCm39)	D707E	probably benign	Het
Dnmt1	A	G	9: 20,852,669 (GRCm39)	S28P	probably benign	Het
Dock5	A	T	14: 67,994,667 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,928,365 (GRCm39)		probably benign	Het
Egln1	A	G	8: 125,640,754 (GRCm39)		probably null	Het
Esr1	T	A	10: 4,733,872 (GRCm39)	M224K	probably damaging	Het
Flt1	A	G	5: 147,615,109 (GRCm39)	I279T	possibly damaging	Het
Fzd6	T	C	15: 38,897,285 (GRCm39)	I478T	probably benign	Het
Glb1l3	A	G	9: 26,738,055 (GRCm39)	V368A	probably benign	Het
Gltpd2	T	C	11: 70,410,637 (GRCm39)	F5S	probably damaging	Het
Helz	G	A	11: 107,577,264 (GRCm39)	E1872K	unknown	Het
Irak3	A	G	10: 120,018,429 (GRCm39)		probably null	Het
Itsn2	A	T	12: 4,747,216 (GRCm39)	I1206F	probably damaging	Het
Lingo3	A	T	10: 80,670,988 (GRCm39)	V314E	probably benign	Het
Lrrc8a	C	T	2: 30,145,698 (GRCm39)	R171W	probably damaging	Het
Lsg1	T	C	16: 30,390,024 (GRCm39)	T364A	probably benign	Het
Mks1	T	C	11: 87,753,478 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,872,729 (GRCm39)	F89Y	probably damaging	Het
Myo1b	A	C	1: 51,840,337 (GRCm39)		probably null	Het
Myo1h	T	C	5: 114,497,000 (GRCm39)	Y819H	probably damaging	Het
Nedd1	G	A	10: 92,525,519 (GRCm39)	Q597*	probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or5an9	A	G	19: 12,187,046 (GRCm39)	T39A	probably benign	Het
Pbrm1	T	C	14: 30,789,761 (GRCm39)	S792P	probably damaging	Het
Pccb	T	C	9: 100,866,449 (GRCm39)	N457S	probably benign	Het
Plekho2	T	C	9: 65,465,902 (GRCm39)	E162G	possibly damaging	Het
Pou1f1	A	T	16: 65,320,430 (GRCm39)	T40S	probably benign	Het
Pwwp2b	T	C	7: 138,836,059 (GRCm39)	V500A	probably damaging	Het
Pygo1	C	T	9: 72,852,020 (GRCm39)	A69V	probably damaging	Het
Slc18a3	A	C	14: 32,185,772 (GRCm39)	Y204D	probably damaging	Het
Stab2	A	G	10: 86,707,785 (GRCm39)	V261A	possibly damaging	Het
Tacc2	A	T	7: 130,330,671 (GRCm39)	K208N	probably damaging	Het
Tbc1d4	T	C	14: 101,738,536 (GRCm39)	D403G	probably damaging	Het
Tbc1d9	T	A	8: 83,995,696 (GRCm39)		probably benign	Het
Tdrkh	T	C	3: 94,336,657 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,964,982 (GRCm39)	L180H	probably damaging	Het
Tm4sf19	T	A	16: 32,224,733 (GRCm39)	L27Q	probably damaging	Het
Tmtc2	A	G	10: 105,249,157 (GRCm39)	V192A	probably damaging	Het
Ttn	C	A	2: 76,543,328 (GRCm39)	M33219I	probably damaging	Het
Vmn1r52	A	T	6: 90,156,295 (GRCm39)	M200L	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,263 (GRCm39)	H739L	probably benign	Het
Wdr20rt	T	C	12: 65,272,692 (GRCm39)	F52L	probably benign	Het
Zbtb38	C	T	9: 96,569,227 (GRCm39)	G619D	probably benign	Het
Zfyve19	T	C	2: 119,041,999 (GRCm39)	V156A	probably benign	Het

Other mutations in Defa35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03039:Defa35	APN	8	21,555,839 (GRCm39)	missense	probably damaging	0.98
R0309:Defa35	UTSW	8	21,555,871 (GRCm39)	missense	probably benign	0.42
R4483:Defa35	UTSW	8	21,555,208 (GRCm39)	missense	probably damaging	0.97
R5478:Defa35	UTSW	8	21,555,836 (GRCm39)	missense	probably benign	0.43
R6851:Defa35	UTSW	8	21,555,146 (GRCm39)	missense	possibly damaging	0.93
R7258:Defa35	UTSW	8	21,555,245 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-12-18