Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03104:Egln3'

418895

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Egln3

Ensembl Gene

ENSMUSG00000035105

Gene Name

egl-9 family hypoxia-inducible factor 3

Synonyms

SM-20, 2610021G09Rik, Phd3, Hif-p4h-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03104

Quality Score

Status

Chromosome

Chromosomal Location

54225767-54250646 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 54249981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039516]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039516

SMART Domains

Protein: ENSMUSP00000041874
Gene: ENSMUSG00000035105

Domain	Start	End	E-Value	Type
P4Hc	26	213	9.48e-47	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display decreased apoptosis in SCG neurons, reduced adrenal medullary secretory capacity, abnormal adrenal medulla morphology, reduced circulating adrenaline and noradrenaline levels, and reduced systolic blood pressure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	C	A	1: 58,321,918 (GRCm39)	T70K	probably benign	Het
Armt1	T	A	10: 4,389,615 (GRCm39)	Y91N	possibly damaging	Het
Atp1a2	A	G	1: 172,120,934 (GRCm39)	L46S	probably damaging	Het
Baz1a	A	G	12: 54,941,743 (GRCm39)	S1488P	probably damaging	Het
Coro7	T	A	16: 4,446,990 (GRCm39)	E793V	probably damaging	Het
Ctnnbl1	G	T	2: 157,732,885 (GRCm39)	R555L	probably damaging	Het
Dclk2	A	G	3: 86,743,666 (GRCm39)	C268R	probably damaging	Het
Dock7	A	T	4: 98,847,260 (GRCm39)	M1684K	possibly damaging	Het
Dock8	T	A	19: 25,178,384 (GRCm39)	C2092*	probably null	Het
Dtx1	T	A	5: 120,833,030 (GRCm39)	Q136L	possibly damaging	Het
Eml5	A	T	12: 98,827,504 (GRCm39)	Y575*	probably null	Het
Entpd5	A	T	12: 84,431,022 (GRCm39)	V310E	probably damaging	Het
Fkbp5	A	G	17: 28,634,946 (GRCm39)	F188L	probably damaging	Het
Frrs1	T	C	3: 116,675,431 (GRCm39)	S120P	probably benign	Het
Gadl1	T	C	9: 115,903,108 (GRCm39)	I479T	possibly damaging	Het
Gfra2	A	T	14: 71,205,725 (GRCm39)	M106L	probably benign	Het
Gm17455	T	A	10: 60,239,060 (GRCm39)	C108*	probably null	Het
Grhpr	A	G	4: 44,983,867 (GRCm39)		probably benign	Het
Hsp90ab1	G	A	17: 45,882,449 (GRCm39)	R82C	probably damaging	Het
Igsf10	T	C	3: 59,226,905 (GRCm39)	Y2256C	probably damaging	Het
Ivd	A	T	2: 118,703,384 (GRCm39)	I160F	probably benign	Het
Krtap5-5	A	G	7: 141,783,450 (GRCm39)	C67R	unknown	Het
Lhx4	A	T	1: 155,580,967 (GRCm39)	V186E	probably damaging	Het
Lrrk2	T	C	15: 91,631,958 (GRCm39)	I1294T	possibly damaging	Het
Map3k5	C	T	10: 20,007,801 (GRCm39)	S1202L	probably benign	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Mov10	G	A	3: 104,704,623 (GRCm39)	R763W	probably damaging	Het
Mto1	T	C	9: 78,356,802 (GRCm39)	S106P	probably damaging	Het
Naca	C	T	10: 127,876,233 (GRCm39)		probably benign	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or8s10	A	G	15: 98,336,127 (GRCm39)	Y259C	possibly damaging	Het
Pan2	T	C	10: 128,151,532 (GRCm39)		probably benign	Het
Pold1	T	C	7: 44,190,004 (GRCm39)	Y394C	probably damaging	Het
Sipa1l1	T	A	12: 82,388,904 (GRCm39)	S377T	probably benign	Het
Sirpd	G	T	3: 15,397,283 (GRCm39)		probably benign	Het
Slc36a3	A	G	11: 55,015,946 (GRCm39)	S403P	probably damaging	Het
Slc4a4	A	G	5: 89,297,231 (GRCm39)	T480A	probably damaging	Het
Slu7	G	A	11: 43,332,883 (GRCm39)	V315I	probably benign	Het
St6galnac3	T	C	3: 152,911,115 (GRCm39)	E282G	probably damaging	Het
Tlr12	A	G	4: 128,509,685 (GRCm39)	V855A	probably benign	Het
Tut7	T	C	13: 59,962,717 (GRCm39)	D350G	probably benign	Het
Vmn1r53	T	A	6: 90,200,944 (GRCm39)	K127*	probably null	Het
Vmn1r72	T	G	7: 11,403,812 (GRCm39)	H212P	probably damaging	Het
Vmn2r86	T	A	10: 130,282,501 (GRCm39)	Q705L	probably damaging	Het
Vps33b	C	T	7: 79,925,831 (GRCm39)	R93C	probably damaging	Het
Wdr91	T	A	6: 34,882,491 (GRCm39)	E219D	probably benign	Het
Zan	G	A	5: 137,461,762 (GRCm39)	T1139I	unknown	Het
Zc3hav1	T	A	6: 38,317,278 (GRCm39)	K107N	probably damaging	Het
Zmym2	A	G	14: 57,187,784 (GRCm39)	E1150G	possibly damaging	Het

Other mutations in Egln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02675:Egln3	APN	12	54,249,996 (GRCm39)	missense	probably benign	0.08
R0036:Egln3	UTSW	12	54,232,378 (GRCm39)	missense	possibly damaging	0.95
R0091:Egln3	UTSW	12	54,228,432 (GRCm39)	missense	probably benign	0.07
R0325:Egln3	UTSW	12	54,250,298 (GRCm39)	missense	probably benign	0.09
R0358:Egln3	UTSW	12	54,250,082 (GRCm39)	missense	possibly damaging	0.68
R0494:Egln3	UTSW	12	54,250,107 (GRCm39)	missense	probably benign	0.01
R1241:Egln3	UTSW	12	54,228,479 (GRCm39)	missense	probably damaging	1.00
R4786:Egln3	UTSW	12	54,232,367 (GRCm39)	missense	probably damaging	0.99
R5078:Egln3	UTSW	12	54,228,453 (GRCm39)	missense	probably damaging	1.00
R5496:Egln3	UTSW	12	54,250,110 (GRCm39)	missense	probably damaging	1.00
R5692:Egln3	UTSW	12	54,227,447 (GRCm39)	splice site	probably null
R6038:Egln3	UTSW	12	54,228,476 (GRCm39)	missense	probably damaging	0.98
R6038:Egln3	UTSW	12	54,228,476 (GRCm39)	missense	probably damaging	0.98
R6732:Egln3	UTSW	12	54,227,427 (GRCm39)	missense	probably benign
R6944:Egln3	UTSW	12	54,230,738 (GRCm39)	missense	probably benign	0.00
R7508:Egln3	UTSW	12	54,227,414 (GRCm39)	missense	probably benign	0.28
R8204:Egln3	UTSW	12	54,250,010 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02