Mutagenetix > Incidental Mutation

Incidental Mutation 'R8204:Egln3'

635828

Institutional Source

Beutler Lab

Gene Symbol

Egln3

Ensembl Gene

ENSMUSG00000035105

Gene Name

egl-9 family hypoxia-inducible factor 3

Synonyms

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

MMRRC Submission

067627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8204 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

54225767-54250646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54250010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 113 (Y113C)

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
AA Change: Y113C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041874
Gene: ENSMUSG00000035105
AA Change: Y113C

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (51/52)

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
4933427D14Rik	C	T	11: 72,057,606 (GRCm39)	R731H	probably benign	Het
Arpp21	T	A	9: 111,965,638 (GRCm39)	Y408F	noncoding transcript	Het
Atr	T	C	9: 95,817,566 (GRCm39)	S2086P		Het
BC034090	C	A	1: 155,117,488 (GRCm39)	G210V	probably damaging	Het
Cdk6	A	G	5: 3,394,461 (GRCm39)	D32G	probably damaging	Het
Cep126	C	T	9: 8,120,781 (GRCm39)	E81K	probably damaging	Het
Cep20	T	C	16: 14,118,070 (GRCm39)	D150G	probably benign	Het
Clec4d	T	A	6: 123,242,323 (GRCm39)	V25D	probably damaging	Het
Cox8a	A	G	19: 7,192,845 (GRCm39)	I40T	probably benign	Het
Dlg5	A	G	14: 24,210,320 (GRCm39)	L792P	probably damaging	Het
Exoc6b	C	T	6: 84,832,504 (GRCm39)	V397M	probably damaging	Het
Fat2	A	T	11: 55,175,436 (GRCm39)	L1759Q	probably benign	Het
Flg2	T	A	3: 93,110,074 (GRCm39)	S701T	unknown	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Git1	G	A	11: 77,396,161 (GRCm39)	D551N	probably benign	Het
Gpr137	C	T	19: 6,917,746 (GRCm39)	A21T	probably benign	Het
Grk3	A	G	5: 113,105,225 (GRCm39)	F171L	probably benign	Het
Hk1	A	G	10: 62,132,523 (GRCm39)	F175S	probably damaging	Het
Hoxc13	A	G	15: 102,835,795 (GRCm39)	N308D	probably damaging	Het
Itga9	A	G	9: 118,700,989 (GRCm39)	N924S	probably damaging	Het
Katnip	C	T	7: 125,449,914 (GRCm39)	R993C	probably damaging	Het
Klhl20	T	C	1: 160,934,414 (GRCm39)	M202V	probably benign	Het
Krtap19-9a	C	T	16: 88,720,996 (GRCm39)	G37D	noncoding transcript	Het
Lancl2	C	A	6: 57,714,701 (GRCm39)	P440Q	probably damaging	Het
Lrba	T	C	3: 86,222,710 (GRCm39)	I608T	possibly damaging	Het
Lrtm2	T	A	6: 119,294,369 (GRCm39)	E254V	probably benign	Het
Magi3	A	T	3: 103,958,502 (GRCm39)	C528S	probably benign	Het
Mast3	T	C	8: 71,240,925 (GRCm39)	D224G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myrip	G	A	9: 120,262,045 (GRCm39)		probably null	Het
Or4f54	A	G	2: 111,123,485 (GRCm39)	R291G	probably damaging	Het
Or5af2	A	C	11: 58,707,885 (GRCm39)	D17A	probably benign	Het
Plekhg6	C	T	6: 125,340,461 (GRCm39)	R633H	probably damaging	Het
Ppp1r7	T	C	1: 93,292,733 (GRCm39)	V344A	possibly damaging	Het
Ppp2r1a	A	G	17: 21,177,035 (GRCm39)	E191G	probably benign	Het
Prkag2	T	C	5: 25,074,125 (GRCm39)		probably null	Het
Pyroxd2	A	T	19: 42,737,827 (GRCm39)	V48E	probably benign	Het
Sacs	T	C	14: 61,450,397 (GRCm39)	S4148P	probably damaging	Het
Sh3tc2	T	C	18: 62,086,200 (GRCm39)	F5S	probably damaging	Het
Skint8	T	C	4: 111,796,090 (GRCm39)	S255P	probably benign	Het
Tacc2	A	T	7: 130,226,159 (GRCm39)	Q948L	probably damaging	Het
Tcerg1	T	A	18: 42,707,618 (GRCm39)	L1046Q	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfcp2	G	T	15: 100,420,329 (GRCm39)	Q169K	possibly damaging	Het
Tpp1	A	T	7: 105,399,522 (GRCm39)	L82Q	probably damaging	Het
Trpc7	A	G	13: 56,931,609 (GRCm39)	S697P	probably benign	Het
Vmn1r55	A	T	7: 5,150,285 (GRCm39)	I46N	possibly damaging	Het
Wdfy3	A	G	5: 102,000,451 (GRCm39)	V2973A	probably benign	Het
Xrcc1	T	C	7: 24,271,709 (GRCm39)	V564A	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
IGL03104:Egln3	APN	12	54,249,981 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AACGTGGACTTTTGCTTAAGG -3'
(R):5'- AAGCAGCTGCACTACAACGG -3'

Sequencing Primer
(F):5'- GCTTAAGGGGTTAGGCCAG -3'
(R):5'- ACTACAACGGGGCCCTG -3'

Posted On

2020-07-13