Mutagenetix > Incidental Mutation

Incidental Mutation 'R0358:Egln3'

29957

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

038564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0358 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

54225767-54250646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54250082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 89 (E89G)

Ref Sequence

ENSEMBL: ENSMUSP00000041874 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039516
AA Change: E89G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000041874
Gene: ENSMUSG00000035105
AA Change: E89G

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

Meta Mutation Damage Score

0.3217

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.5%

Validation Efficiency

100% (64/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	A	17: 79,935,585 (GRCm39)		probably benign	Het
Abca16	A	T	7: 120,143,939 (GRCm39)	K1651N	probably benign	Het
Abcb1b	T	C	5: 8,871,423 (GRCm39)	S326P	probably benign	Het
Ache	A	G	5: 137,288,635 (GRCm39)	T114A	probably benign	Het
Akap3	T	A	6: 126,843,775 (GRCm39)	V798D	probably damaging	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Aqp4	T	C	18: 15,531,302 (GRCm39)	N153S	probably benign	Het
Arhgap23	G	A	11: 97,354,414 (GRCm39)	V265M	probably damaging	Het
Arhgef25	A	T	10: 127,020,322 (GRCm39)	M326K	probably damaging	Het
Atp6v1c2	T	C	12: 17,334,961 (GRCm39)		probably benign	Het
Cars1	A	T	7: 143,142,219 (GRCm39)		probably benign	Het
Cep83	A	T	10: 94,555,593 (GRCm39)	M96L	probably benign	Het
Cfap46	A	G	7: 139,231,449 (GRCm39)		probably benign	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cul7	G	A	17: 46,974,670 (GRCm39)		probably null	Het
Dhrs2	G	A	14: 55,473,574 (GRCm39)	V78M	probably damaging	Het
Dhx38	A	T	8: 110,279,094 (GRCm39)	D1051E	probably benign	Het
Eftud2	A	G	11: 102,755,627 (GRCm39)		probably benign	Het
Eif2ak4	A	G	2: 118,294,410 (GRCm39)		probably null	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fsip2	A	T	2: 82,813,677 (GRCm39)	N3332I	possibly damaging	Het
Gbp2b	A	T	3: 142,312,550 (GRCm39)	E311V	probably damaging	Het
Gcnt2	G	T	13: 41,014,329 (GRCm39)	A167S	probably damaging	Het
Gm9797	A	T	10: 11,485,088 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,215 (GRCm39)		probably null	Het
Gpr22	T	C	12: 31,759,981 (GRCm39)	N47S	probably benign	Het
Il18rap	A	T	1: 40,588,202 (GRCm39)	H600L	possibly damaging	Het
Larp7	A	G	3: 127,340,737 (GRCm39)		probably null	Het
Mep1a	A	G	17: 43,789,841 (GRCm39)	Y490H	possibly damaging	Het
Mrgprh	T	A	17: 13,096,237 (GRCm39)	V159D	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nrbp1	T	A	5: 31,402,231 (GRCm39)	I64N	probably damaging	Het
Nup214	G	A	2: 31,894,312 (GRCm39)		probably null	Het
Or10d1b	A	G	9: 39,613,297 (GRCm39)	I256T	possibly damaging	Het
Or13a21	G	T	7: 139,998,856 (GRCm39)	L277M	probably damaging	Het
Or2o1	T	A	11: 49,051,071 (GRCm39)	C77S	probably benign	Het
Or4k15b	A	T	14: 50,272,743 (GRCm39)	L39Q	probably damaging	Het
Pef1	A	G	4: 130,021,180 (GRCm39)	T245A	probably damaging	Het
Phrf1	A	G	7: 140,838,217 (GRCm39)		probably benign	Het
Ppig	A	G	2: 69,573,942 (GRCm39)		probably benign	Het
Ppp1r8	G	T	4: 132,562,039 (GRCm39)	F60L	probably damaging	Het
Psmd11	G	A	11: 80,353,510 (GRCm39)		probably benign	Het
Ptk6	G	T	2: 180,840,315 (GRCm39)	H230Q	probably benign	Het
Ptprd	T	C	4: 75,863,226 (GRCm39)	Y1496C	probably damaging	Het
Rhbdl3	G	T	11: 80,244,457 (GRCm39)	W388L	probably damaging	Het
Rnf130	T	A	11: 49,962,109 (GRCm39)	M185K	probably benign	Het
S100a13	A	T	3: 90,423,299 (GRCm39)	I97F	probably damaging	Het
Slc22a16	T	G	10: 40,463,488 (GRCm39)		probably null	Het
Tcte1	A	T	17: 45,846,211 (GRCm39)	T272S	probably benign	Het
Terf1	T	C	1: 15,876,062 (GRCm39)	V54A	possibly damaging	Het
Tmem63a	T	A	1: 180,783,988 (GRCm39)	N189K	probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim66	G	A	7: 109,059,383 (GRCm39)	Q954*	probably null	Het
Trpv4	A	G	5: 114,768,493 (GRCm39)	F525S	probably damaging	Het
Ttll7	A	G	3: 146,649,871 (GRCm39)	T634A	probably benign	Het
Tut7	T	C	13: 59,929,918 (GRCm39)	D47G	probably damaging	Het
Ush2a	T	G	1: 188,269,977 (GRCm39)	N1741K	possibly damaging	Het
Wdr87-ps	A	T	7: 29,231,636 (GRCm39)		noncoding transcript	Het
Zfp451	T	A	1: 33,816,810 (GRCm39)	H163L	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGCAGATAGGCAAGCTGACTTC -3'
(R):5'- GGCTTCTGCTACCTGGACAACTTC -3'

Sequencing Primer
(F):5'- GGTTAAAAACCAAAGTTCGCTGC -3'
(R):5'- AGTCAAGCAGCTGCACTAC -3'

Posted On

2013-04-24