Mutagenetix > Incidental Mutation

Incidental Mutation 'R5078:Egln3'

386974

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

042667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54225767-54250646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54228453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 218 (R218G)

Ref Sequence

ENSEMBL: ENSMUSP00000041874 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039516
AA Change: R218G

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

SMART Domains

Protein: ENSMUSP00000041874
Gene: ENSMUSG00000035105
AA Change: R218G

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

Meta Mutation Damage Score

0.8684

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (53/53)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,141,771 (GRCm39)	S345G	probably benign	Het
Adgrf2	A	T	17: 43,021,877 (GRCm39)	F316I	probably damaging	Het
Ank2	A	G	3: 126,736,002 (GRCm39)		probably benign	Het
Auts2	T	C	5: 132,287,786 (GRCm39)	K66E	possibly damaging	Het
Bicra	T	C	7: 15,709,382 (GRCm39)	D1144G	probably damaging	Het
Cabin1	A	G	10: 75,557,312 (GRCm39)	S1109P	probably damaging	Het
Camkv	T	C	9: 107,822,572 (GRCm39)	V29A	probably damaging	Het
Ccdc178	A	T	18: 22,200,685 (GRCm39)		probably null	Het
Ccser1	G	A	6: 61,288,350 (GRCm39)	R171H	probably damaging	Het
Cdk19	A	G	10: 40,312,150 (GRCm39)	Y133C	probably damaging	Het
Cerkl	T	A	2: 79,223,352 (GRCm39)	D123V	probably benign	Het
Chd1	T	C	17: 15,946,616 (GRCm39)	S121P	possibly damaging	Het
Col4a2	T	C	8: 11,493,936 (GRCm39)	V1459A	probably benign	Het
Dlg1	T	A	16: 31,675,287 (GRCm39)	Y704*	probably null	Het
Dsg2	T	C	18: 20,729,140 (GRCm39)		probably null	Het
Gm11568	T	C	11: 99,749,181 (GRCm39)	C129R	unknown	Het
Gm13991	T	C	2: 116,358,355 (GRCm39)		noncoding transcript	Het
Gmnc	C	A	16: 26,784,332 (GRCm39)	V58L	probably benign	Het
Gpx5	A	G	13: 21,472,881 (GRCm39)	F151S	probably damaging	Het
Helz	G	A	11: 107,546,922 (GRCm39)	G1079R	probably damaging	Het
Ice1	T	C	13: 70,752,969 (GRCm39)	E1039G	probably benign	Het
Kif18a	T	C	2: 109,125,487 (GRCm39)		probably benign	Het
Klhl29	T	C	12: 5,143,530 (GRCm39)	T500A	possibly damaging	Het
Lrfn5	A	C	12: 61,890,660 (GRCm39)	K650Q	possibly damaging	Het
Lrp2	T	C	2: 69,331,874 (GRCm39)	D1627G	possibly damaging	Het
Nxn	T	C	11: 76,152,433 (GRCm39)	K354E	probably damaging	Het
Or5d20-ps1	T	A	2: 87,931,879 (GRCm39)	I151L	probably benign	Het
Pcnx2	T	C	8: 126,478,895 (GRCm39)	T2118A	probably benign	Het
Phldb2	A	G	16: 45,598,105 (GRCm39)	F861L	possibly damaging	Het
Piezo2	A	G	18: 63,157,607 (GRCm39)	Y2368H	probably damaging	Het
Pnp	T	A	14: 51,188,963 (GRCm39)	L252*	probably null	Het
Prom2	T	C	2: 127,373,757 (GRCm39)	Q641R	probably benign	Het
Prpf31	T	C	7: 3,637,702 (GRCm39)	S180P	possibly damaging	Het
Prss27	C	A	17: 24,263,414 (GRCm39)	Y142*	probably null	Het
Ripk1	T	G	13: 34,201,082 (GRCm39)	M265R	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ropn1	T	A	16: 34,487,161 (GRCm39)	D32E	probably damaging	Het
Rps23	T	C	13: 91,071,822 (GRCm39)	F41L	probably benign	Het
Sec24d	A	G	3: 123,084,201 (GRCm39)	I127V	probably benign	Het
Selenot	C	T	3: 58,492,692 (GRCm39)	R60W	probably damaging	Het
Tll1	T	C	8: 64,546,921 (GRCm39)	K342E	probably damaging	Het
Tlx1	A	T	19: 45,144,460 (GRCm39)	N61Y	probably damaging	Het
Vmn2r117	T	A	17: 23,679,122 (GRCm39)	I701F	probably damaging	Het
Zmynd12	A	G	4: 119,302,047 (GRCm39)	K229E	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CCTTCTGATGGTTTTAAGAGCATGAG -3'
(R):5'- AGCATTGTTGAGTTCTGAGCTC -3'

Sequencing Primer
(F):5'- TTTTAAGAGCATGAGAGCCAAGGC -3'
(R):5'- GTCCCCAGAACACCTGTG -3'

Posted On

2016-06-06