Mutagenetix > Incidental Mutation

Incidental Mutation 'R4786:Egln3'

367117

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

041995-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54225767-54250646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54232367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 146 (I146N)

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: I146N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041874
Gene: ENSMUSG00000035105
AA Change: I146N

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,106,321 (GRCm39)	I134N	possibly damaging	Het
Acvr1c	T	C	2: 58,170,366 (GRCm39)	Y414C	probably damaging	Het
Adam32	A	C	8: 25,353,509 (GRCm39)	S693R	probably damaging	Het
Aldh2	A	T	5: 121,710,887 (GRCm39)	F314Y	probably benign	Het
Anks1	A	G	17: 28,271,704 (GRCm39)	D874G	possibly damaging	Het
Ap4b1	T	A	3: 103,726,120 (GRCm39)	V372E	probably benign	Het
Aqp12	G	A	1: 92,934,177 (GRCm39)	C18Y	probably damaging	Het
Arap1	T	A	7: 101,034,212 (GRCm39)	I218N	possibly damaging	Het
Arhgap42	C	A	9: 9,238,703 (GRCm39)	E28*	probably null	Het
Asb5	G	A	8: 55,038,874 (GRCm39)	E247K	probably benign	Het
Atg9b	T	C	5: 24,591,087 (GRCm39)	D781G	possibly damaging	Het
Atxn10	A	G	15: 85,271,344 (GRCm39)	H294R	probably benign	Het
Bod1l	G	T	5: 41,976,781 (GRCm39)	T1511K	probably benign	Het
Btnl2	A	T	17: 34,582,322 (GRCm39)	N296I	probably damaging	Het
Camta1	A	T	4: 151,374,496 (GRCm39)	L168H	probably damaging	Het
Cant1	A	T	11: 118,299,665 (GRCm39)	V265E	possibly damaging	Het
Ccdc157	T	C	11: 4,101,861 (GRCm39)	D20G	probably damaging	Het
Cd209c	T	G	8: 3,995,698 (GRCm39)	T35P	possibly damaging	Het
Cdc20b	G	A	13: 113,215,268 (GRCm39)	V279M	probably damaging	Het
Cdh18	T	A	15: 23,410,873 (GRCm39)	W453R	probably null	Het
Cdh24	A	G	14: 54,875,007 (GRCm39)	S333P	possibly damaging	Het
Ceacam11	T	C	7: 17,706,239 (GRCm39)		probably null	Het
Ciz1	C	T	2: 32,267,539 (GRCm39)	P150L	probably damaging	Het
Crip3	C	A	17: 46,741,968 (GRCm39)	Q152K	possibly damaging	Het
Dars2	G	A	1: 160,888,330 (GRCm39)	R197W	probably damaging	Het
Dctn4	A	G	18: 60,688,267 (GRCm39)	D394G	probably damaging	Het
Dido1	T	C	2: 180,312,664 (GRCm39)	Y1077C	possibly damaging	Het
Dnhd1	A	G	7: 105,323,651 (GRCm39)	T641A	probably benign	Het
Eif2ak3	C	T	6: 70,869,602 (GRCm39)	T763M	possibly damaging	Het
Etfbkmt	A	T	6: 149,048,744 (GRCm39)	M1L	probably benign	Het
Fam171a1	A	T	2: 3,226,615 (GRCm39)	I583F	probably damaging	Het
Fbxo38	A	C	18: 62,662,745 (GRCm39)	L249W	probably damaging	Het
Fxyd5	T	C	7: 30,740,907 (GRCm39)		probably benign	Het
Gabrr3	C	A	16: 59,250,463 (GRCm39)	T154K	probably benign	Het
Gm7233	C	A	14: 43,038,347 (GRCm39)	D90E	probably benign	Het
Gm8186	A	G	17: 26,318,014 (GRCm39)	V61A	probably benign	Het
Gnao1	A	G	8: 94,670,931 (GRCm39)	I137V	probably benign	Het
Gnptab	A	G	10: 88,272,044 (GRCm39)	M945V	probably damaging	Het
Gpsm1	G	A	2: 26,212,493 (GRCm39)	A78T	probably benign	Het
Gtf2b	T	C	3: 142,487,230 (GRCm39)	L222P	probably damaging	Het
Hnrnpf	A	G	6: 117,900,857 (GRCm39)	Y47C	probably damaging	Het
Itga6	A	G	2: 71,669,034 (GRCm39)	N608S	possibly damaging	Het
Kdm2b	T	C	5: 123,018,917 (GRCm39)		probably null	Het
Krit1	T	A	5: 3,862,467 (GRCm39)	H207Q	possibly damaging	Het
Ky	A	G	9: 102,419,186 (GRCm39)	N398D	probably benign	Het
Lama1	T	A	17: 68,080,854 (GRCm39)	V1294E	possibly damaging	Het
Lef1	C	T	3: 130,905,173 (GRCm39)	T18I	probably damaging	Het
Lrp2	T	C	2: 69,368,300 (GRCm39)	N178S	probably damaging	Het
Lrrc36	A	G	8: 106,181,910 (GRCm39)	T525A	probably benign	Het
Map3k8	A	T	18: 4,340,647 (GRCm39)	C222*	probably null	Het
Mapre2	G	C	18: 24,011,016 (GRCm39)	S199T	probably benign	Het
Mcm3ap	A	G	10: 76,324,300 (GRCm39)	N911S	probably benign	Het
Mroh4	G	T	15: 74,482,083 (GRCm39)	H722Q	probably benign	Het
Muc21	A	T	17: 35,930,221 (GRCm39)		probably benign	Het
Myo5b	A	C	18: 74,828,451 (GRCm39)	Y701S	probably benign	Het
Myt1l	G	T	12: 29,861,457 (GRCm39)	V80L	unknown	Het
Ncoa7	C	A	10: 30,531,638 (GRCm39)	V24L	probably benign	Het
Nlrp10	A	T	7: 108,524,445 (GRCm39)	V345D	probably damaging	Het
Nmral1	C	A	16: 4,534,288 (GRCm39)	G51V	probably damaging	Het
Npc1	A	G	18: 12,332,554 (GRCm39)	I797T	probably benign	Het
Or4x6	A	T	2: 89,949,351 (GRCm39)	I197N	possibly damaging	Het
Or8g22	T	A	9: 38,958,783 (GRCm39)	R22*	probably null	Het
Or8g34	A	T	9: 39,373,137 (GRCm39)	I134L	probably benign	Het
Pclo	A	T	5: 14,773,281 (GRCm39)	I4419F	unknown	Het
Phf3	C	A	1: 30,855,638 (GRCm39)	E983*	probably null	Het
Pitpnm2	A	T	5: 124,259,806 (GRCm39)	Y1149*	probably null	Het
Sdc3	A	T	4: 130,550,079 (GRCm39)	T430S	probably damaging	Het
Sema3f	A	G	9: 107,559,881 (GRCm39)	V671A	probably benign	Het
Sigirr	T	G	7: 140,671,346 (GRCm39)	S379R	probably benign	Het
Slc25a23	T	A	17: 57,354,326 (GRCm39)	N360I	possibly damaging	Het
Slco6c1	A	T	1: 97,015,720 (GRCm39)	M357K	probably benign	Het
Sox14	C	A	9: 99,757,018 (GRCm39)	M240I	probably benign	Het
Stradb	A	T	1: 59,030,367 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,256,259 (GRCm39)	M200K	probably benign	Het
Tef	T	C	15: 81,699,453 (GRCm39)	S85P	probably benign	Het
Thada	T	A	17: 84,766,283 (GRCm39)	H41L	possibly damaging	Het
Tinagl1	A	G	4: 130,067,724 (GRCm39)	F90S	probably benign	Het
Tnfaip1	G	A	11: 78,421,045 (GRCm39)	T5I	possibly damaging	Het
Tnfrsf23	A	T	7: 143,233,801 (GRCm39)	V59D	probably damaging	Het
Tnpo3	A	G	6: 29,578,541 (GRCm39)	V311A	probably benign	Het
Trak1	T	A	9: 121,301,560 (GRCm39)	M772K	probably benign	Het
Ubash3a	A	G	17: 31,436,938 (GRCm39)	D185G	probably benign	Het
Vmn2r120	T	C	17: 57,829,048 (GRCm39)	T516A	probably benign	Het
Wdr4	A	C	17: 31,728,785 (GRCm39)	L130R	probably damaging	Het
Zfp12	T	C	5: 143,231,257 (GRCm39)	I528T	probably damaging	Het
Zfp607a	T	C	7: 27,578,838 (GRCm39)	L636P	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
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

Predicted Primers

PCR Primer
(F):5'- GGCATACTCTTTTGATCTGAACTC -3'
(R):5'- ACAGGGTCTGCCTGTTACAC -3'

Sequencing Primer
(F):5'- GAACTCTCAGTGTACCCCTATCGG -3'
(R):5'- GCCTGTTACACTTTCATACCAAAG -3'

Posted On

2015-12-29