Mutagenetix > Incidental Mutation

Incidental Mutation 'R7302:Egln2'

567042

Institutional Source

Beutler Lab

Gene Symbol

Egln2

Ensembl Gene

ENSMUSG00000058709

Gene Name

egl-9 family hypoxia-inducible factor 2

Synonyms

SM-20, Hif-p4h-1, Ier4, Phd1, 0610011A13Rik

MMRRC Submission

045406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26858083-26866227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26864310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 205 (V205A)

Ref Sequence

ENSEMBL: ENSMUSP00000078966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080058] [ENSMUST00000093040] [ENSMUST00000108382] [ENSMUST00000153511] [ENSMUST00000154724]

AlphaFold

Q91YE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000080058
AA Change: V205A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078966
Gene: ENSMUSG00000058709
AA Change: V205A

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Blast:P4Hc	75	136	3e-14	BLAST
low complexity region	154	174	N/A	INTRINSIC
P4Hc	201	387	9.71e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093040

SMART Domains

Protein: ENSMUSP00000090727
Gene: ENSMUSG00000053291

Domain	Start	End	E-Value	Type
RAB	9	172	2.47e-101	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108382
AA Change: V205A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104019
Gene: ENSMUSG00000058709
AA Change: V205A

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Blast:P4Hc	75	136	3e-14	BLAST
low complexity region	154	174	N/A	INTRINSIC
P4Hc	201	387	9.71e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153511

SMART Domains

Protein: ENSMUSP00000138477
Gene: ENSMUSG00000053291

Domain	Start	End	E-Value	Type
Pfam:Arf	3	97	1.8e-11	PFAM
Pfam:Miro	10	95	9.5e-15	PFAM
Pfam:Ras	10	95	7.8e-35	PFAM
Pfam:Gtr1_RagA	10	98	4.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154724

SMART Domains

Protein: ENSMUSP00000122859
Gene: ENSMUSG00000095538

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
SH3	46	112	8.92e-5	SMART

Meta Mutation Damage Score

0.6510

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygotes are viable with no apparent abnormalities in cardiovascular, hematopoietic, or placental morphology and development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,306 (GRCm39)	P69S	probably benign	Het
Adam17	A	G	12: 21,405,694 (GRCm39)		probably benign	Het
Bcl7a	T	A	5: 123,482,757 (GRCm39)	M22K	probably benign	Het
C6	T	A	15: 4,826,432 (GRCm39)	C672S	probably damaging	Het
Capn11	C	T	17: 45,954,738 (GRCm39)	R133H	probably damaging	Het
Ccdc102a	A	G	8: 95,640,066 (GRCm39)	L76P	probably damaging	Het
Cfhr4	T	C	1: 139,667,436 (GRCm39)		probably null	Het
Cotl1	T	G	8: 120,537,040 (GRCm39)	I125L	probably benign	Het
Dennd5a	A	T	7: 109,504,906 (GRCm39)	M868K	probably damaging	Het
Depdc5	T	C	5: 33,136,852 (GRCm39)	I1374T	probably damaging	Het
Dhx36	T	C	3: 62,386,814 (GRCm39)	Y646C	probably benign	Het
Ecpas	T	C	4: 58,834,593 (GRCm39)	K762E	probably benign	Het
Eri2	T	A	7: 119,386,009 (GRCm39)	M229L	probably benign	Het
Fancf	C	A	7: 51,511,452 (GRCm39)	R184L	probably damaging	Het
Fancl	A	T	11: 26,353,363 (GRCm39)	E86D	probably damaging	Het
Fignl2	T	C	15: 100,951,259 (GRCm39)	D341G	unknown	Het
Gm14410	A	T	2: 176,885,648 (GRCm39)	H205Q	probably damaging	Het
Haus1	T	C	18: 77,848,666 (GRCm39)	N181D	probably benign	Het
Hmbox1	T	C	14: 65,066,115 (GRCm39)	Y285C	probably damaging	Het
Igkv3-9	A	G	6: 70,565,739 (GRCm39)	M113V	probably benign	Het
Ivd	T	C	2: 118,701,985 (GRCm39)	V139A	probably benign	Het
Limch1	A	T	5: 67,116,942 (GRCm39)	Y119F	probably benign	Het
Lrp1	C	T	10: 127,374,856 (GRCm39)	R4534Q	probably benign	Het
Mbd3l2	G	A	9: 18,355,738 (GRCm39)	S21N	probably benign	Het
Mob1b	A	G	5: 88,901,036 (GRCm39)	N148D	probably benign	Het
Mylk4	A	T	13: 32,904,548 (GRCm39)	D195E	probably benign	Het
Ndufa7	T	C	17: 34,048,687 (GRCm39)	S50P	probably benign	Het
Nectin4	G	T	1: 171,214,203 (GRCm39)	E453*	probably null	Het
Nell1	T	G	7: 50,506,017 (GRCm39)	F741L	probably benign	Het
Ntng1	T	A	3: 109,739,933 (GRCm39)	H369L	possibly damaging	Het
Plin4	T	A	17: 56,409,330 (GRCm39)	M1297L	probably benign	Het
Pnp	G	A	14: 51,188,404 (GRCm39)	V193M	probably damaging	Het
Ppp1r10	T	G	17: 36,241,773 (GRCm39)	S849R	unknown	Het
Rpgrip1	A	G	14: 52,387,012 (GRCm39)	E981G	unknown	Het
Sbsn	T	C	7: 30,451,309 (GRCm39)	F108S	probably benign	Het
Scn11a	A	G	9: 119,636,017 (GRCm39)	M310T	probably benign	Het
Sf3b1	A	G	1: 55,055,949 (GRCm39)	S97P	probably benign	Het
Sgsh	A	G	11: 119,238,525 (GRCm39)	V313A	probably benign	Het
Slc25a10	G	T	11: 120,382,782 (GRCm39)		probably benign	Het
Slc9a2	T	A	1: 40,806,828 (GRCm39)	V705E	possibly damaging	Het
Surf2	G	T	2: 26,808,894 (GRCm39)	C116F	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,698 (GRCm39)	I175T	probably benign	Het
Tnxb	C	T	17: 34,897,875 (GRCm39)	T841I	probably benign	Het
Ttll3	A	G	6: 113,386,246 (GRCm39)	D693G	probably damaging	Het
Ust	A	G	10: 8,393,973 (GRCm39)	L64P	probably damaging	Het
Vmn1r77	C	T	7: 11,775,983 (GRCm39)	S253F	possibly damaging	Het
Vmn2r66	A	G	7: 84,654,423 (GRCm39)	M512T	probably benign	Het
Zfp13	C	T	17: 23,800,036 (GRCm39)	G89D	probably damaging	Het
Zfp616	T	A	11: 73,976,205 (GRCm39)	Y825N	probably benign	Het
Zfp865	A	G	7: 5,032,252 (GRCm39)	Y79C	possibly damaging	Het
Zfyve26	A	T	12: 79,297,942 (GRCm39)	F1916I	probably damaging	Het

Other mutations in Egln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Egln2	APN	7	26,859,717 (GRCm39)	missense	probably null	0.03
IGL01975:Egln2	APN	7	26,859,745 (GRCm39)	missense	possibly damaging	0.50
IGL02261:Egln2	APN	7	26,859,291 (GRCm39)	missense	possibly damaging	0.78
R0268:Egln2	UTSW	7	26,864,672 (GRCm39)	missense	possibly damaging	0.57
R1276:Egln2	UTSW	7	26,864,430 (GRCm39)	unclassified	probably benign
R1455:Egln2	UTSW	7	26,859,796 (GRCm39)	missense	probably damaging	1.00
R4569:Egln2	UTSW	7	26,859,008 (GRCm39)	missense	probably damaging	1.00
R4656:Egln2	UTSW	7	26,858,618 (GRCm39)	missense	probably benign	0.00
R7201:Egln2	UTSW	7	26,859,744 (GRCm39)	missense	probably damaging	1.00
R7216:Egln2	UTSW	7	26,859,254 (GRCm39)	missense	probably damaging	1.00
R9081:Egln2	UTSW	7	26,864,286 (GRCm39)	missense	probably benign
Z1177:Egln2	UTSW	7	26,864,415 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGTGCGCCCATTGATGAC -3'
(R):5'- AAAGTGGTATGGGCTGTGAC -3'

Sequencing Primer
(F):5'- ATTACTGCGTCCACGTGAG -3'
(R):5'- TGTGACAGCGGTGCCAG -3'

Posted On

2019-06-26