Mutagenetix > Incidental Mutation

Incidental Mutation 'R4714:Hif3a'

353436

Institutional Source

Beutler Lab

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

Nepas, MOP7, bHLHe17

MMRRC Submission

041956-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R4714 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

16765432-16796352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16790196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 69 (L69P)

Ref Sequence

ENSEMBL: ENSMUSP00000104132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037762] [ENSMUST00000108492] [ENSMUST00000153833]

AlphaFold

Q0VBL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037762
AA Change: L67P

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

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: L67P

Domain	Start	End	E-Value	Type
HLH	18	73	1.57e-7	SMART
PAS	82	148	9.83e-10	SMART
PAS	225	293	2.72e-3	SMART
PAC	299	342	2.18e-2	SMART
low complexity region	421	437	N/A	INTRINSIC
Pfam:HIF-1	472	505	1.8e-18	PFAM
low complexity region	508	520	N/A	INTRINSIC
low complexity region	525	536	N/A	INTRINSIC
low complexity region	595	607	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108492
AA Change: L69P

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

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: L69P

Domain	Start	End	E-Value	Type
HLH	20	75	1.57e-7	SMART
PAS	84	150	9.83e-10	SMART
PAS	227	295	2.72e-3	SMART
PAC	301	344	2.18e-2	SMART
low complexity region	423	439	N/A	INTRINSIC
Pfam:HIF-1	475	506	5.7e-18	PFAM
low complexity region	510	522	N/A	INTRINSIC
low complexity region	527	538	N/A	INTRINSIC
low complexity region	597	609	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000153833
AA Change: L69P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117728
Gene: ENSMUSG00000004328
AA Change: L69P

Domain	Start	End	E-Value	Type
HLH	20	75	1.27e-7	SMART
low complexity region	87	102	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206290

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired lung remodeling resulting in hypertrophy of the heart right ventricle and pulmonary hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4930486L24Rik	A	G	13: 60,992,132 (GRCm39)	V298A	probably damaging	Het
Abca12	A	G	1: 71,360,609 (GRCm39)	V534A	probably benign	Het
Abcb4	A	G	5: 8,980,906 (GRCm39)		probably null	Het
Adam30	A	T	3: 98,070,170 (GRCm39)	S668C	probably damaging	Het
Ap1g1	T	A	8: 110,556,252 (GRCm39)	V196D	probably damaging	Het
Atp11b	G	A	3: 35,888,543 (GRCm39)	V738I	probably benign	Het
Cast	C	T	13: 74,946,834 (GRCm39)	V27I	probably damaging	Het
Cfap54	A	G	10: 92,651,780 (GRCm39)	I3090T	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Champ1	T	C	8: 13,928,063 (GRCm39)	Y74H	probably damaging	Het
Cpm	T	C	10: 117,511,890 (GRCm39)	I278T	probably damaging	Het
Dcaf15	T	C	8: 84,828,845 (GRCm39)	T141A	probably benign	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Defb8	A	G	8: 19,497,575 (GRCm39)	L12P	probably damaging	Het
Dlg1	A	T	16: 31,609,079 (GRCm39)	I225F	probably damaging	Het
Dync2h1	G	T	9: 7,118,932 (GRCm39)	H2178N	possibly damaging	Het
Enam	A	G	5: 88,651,395 (GRCm39)	E893G	probably damaging	Het
Flt4	T	A	11: 49,518,034 (GRCm39)	L358Q	probably damaging	Het
Frmpd1	A	G	4: 45,284,785 (GRCm39)	Q1202R	probably benign	Het
Ghr	T	A	15: 3,349,879 (GRCm39)	D433V	possibly damaging	Het
Grm7	G	A	6: 111,057,383 (GRCm39)	D328N	possibly damaging	Het
Haus4	T	C	14: 54,779,577 (GRCm39)	D349G	probably benign	Het
Helz	T	C	11: 107,517,542 (GRCm39)		probably null	Het
Ifit1	A	G	19: 34,625,563 (GRCm39)	E233G	probably damaging	Het
Kcnc2	T	C	10: 112,291,733 (GRCm39)	F307S	possibly damaging	Het
Lrp1b	A	T	2: 41,000,771 (GRCm39)	V2151E	possibly damaging	Het
Lrp5	T	C	19: 3,709,454 (GRCm39)	N92S	probably damaging	Het
Metrnl	C	T	11: 121,606,839 (GRCm39)	A216V	probably damaging	Het
Msh2	A	G	17: 88,026,217 (GRCm39)	T732A	probably damaging	Het
Necab2	T	C	8: 120,194,334 (GRCm39)	L270P	probably damaging	Het
Noc3l	T	C	19: 38,804,157 (GRCm39)	K74E	probably benign	Het
Oas2	A	T	5: 120,871,537 (GRCm39)	L702Q	probably damaging	Het
Or1j1	A	T	2: 36,703,047 (GRCm39)	I19N	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or4k1	A	G	14: 50,377,436 (GRCm39)	I220T	possibly damaging	Het
Or4k6	C	A	14: 50,475,824 (GRCm39)	V173L	possibly damaging	Het
Or6c216	A	T	10: 129,678,814 (GRCm39)	N32K	probably damaging	Het
Pax6	A	G	2: 105,525,745 (GRCm39)	H376R	possibly damaging	Het
Pnkd	C	T	1: 74,390,941 (GRCm39)	R376C	probably damaging	Het
Pnpla8	T	C	12: 44,342,696 (GRCm39)	F484S	probably damaging	Het
Psme4	T	A	11: 30,782,573 (GRCm39)	H909Q	probably benign	Het
Rasip1	CGG	CGGG	7: 45,281,820 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,182,395 (GRCm39)	Y413N	probably damaging	Het
Rnf123	A	G	9: 107,929,638 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,461,412 (GRCm39)	M259K	possibly damaging	Het
Sohlh2	A	G	3: 55,097,950 (GRCm39)	H134R	probably benign	Het
Sorbs2	A	G	8: 46,248,330 (GRCm39)	D447G	possibly damaging	Het
Tank	C	T	2: 61,480,573 (GRCm39)	P370S	probably benign	Het
Tenm4	A	G	7: 96,544,131 (GRCm39)	E2049G	probably damaging	Het
Tnik	A	G	3: 28,648,226 (GRCm39)	H426R	possibly damaging	Het
Trpm6	C	A	19: 18,831,564 (GRCm39)	S1476R	possibly damaging	Het
Trpm7	G	A	2: 126,682,703 (GRCm39)	Q389*	probably null	Het
Ttc28	G	A	5: 111,433,095 (GRCm39)	R2043Q	possibly damaging	Het
Tymp	A	G	15: 89,260,510 (GRCm39)	S103P	probably damaging	Het
Usp40	C	T	1: 87,894,901 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,685,977 (GRCm39)	N147Y	probably damaging	Het
Vmn2r89	T	C	14: 51,689,688 (GRCm39)	S64P	probably damaging	Het
Vps13a	A	T	19: 16,727,220 (GRCm39)	D229E	probably benign	Het
Vps52	A	G	17: 34,180,153 (GRCm39)	I354V	probably benign	Het
Zbtb8os	T	C	4: 129,235,557 (GRCm39)	F90L	probably damaging	Het
Zfp36l1	T	C	12: 80,157,270 (GRCm39)	D37G	possibly damaging	Het
Zfp467	A	G	6: 48,404,751 (GRCm39)	S109P	unknown	Het
Zzef1	T	A	11: 72,728,038 (GRCm39)	C535S	probably damaging	Het

Other mutations in Hif3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Hif3a	APN	7	16,785,841 (GRCm39)	splice site	probably null
IGL02496:Hif3a	APN	7	16,773,603 (GRCm39)	splice site	probably benign
IGL02572:Hif3a	APN	7	16,784,513 (GRCm39)	missense	probably null
IGL02638:Hif3a	APN	7	16,778,293 (GRCm39)	unclassified	probably benign
IGL02704:Hif3a	APN	7	16,784,686 (GRCm39)	unclassified	probably benign
IGL03000:Hif3a	APN	7	16,782,564 (GRCm39)	missense	probably benign	0.08
IGL03342:Hif3a	APN	7	16,775,047 (GRCm39)	missense	possibly damaging	0.92
R0265:Hif3a	UTSW	7	16,769,793 (GRCm39)	makesense	probably null
R0326:Hif3a	UTSW	7	16,778,325 (GRCm39)	missense	probably benign	0.01
R0396:Hif3a	UTSW	7	16,785,946 (GRCm39)	splice site	probably benign
R1494:Hif3a	UTSW	7	16,788,647 (GRCm39)	missense	probably damaging	1.00
R1529:Hif3a	UTSW	7	16,776,564 (GRCm39)	missense	probably benign	0.02
R1548:Hif3a	UTSW	7	16,778,328 (GRCm39)	missense	probably benign	0.00
R1686:Hif3a	UTSW	7	16,778,789 (GRCm39)	missense	possibly damaging	0.46
R1916:Hif3a	UTSW	7	16,773,581 (GRCm39)	missense	possibly damaging	0.87
R2026:Hif3a	UTSW	7	16,778,322 (GRCm39)	missense	possibly damaging	0.81
R2032:Hif3a	UTSW	7	16,785,104 (GRCm39)	missense	probably damaging	1.00
R2354:Hif3a	UTSW	7	16,775,030 (GRCm39)	missense	probably damaging	1.00
R3693:Hif3a	UTSW	7	16,774,999 (GRCm39)	missense	probably damaging	1.00
R3780:Hif3a	UTSW	7	16,788,638 (GRCm39)	missense	probably damaging	1.00
R3921:Hif3a	UTSW	7	16,771,097 (GRCm39)	missense	possibly damaging	0.80
R4003:Hif3a	UTSW	7	16,778,844 (GRCm39)	missense	probably damaging	0.99
R4953:Hif3a	UTSW	7	16,784,490 (GRCm39)	missense	probably damaging	0.98
R5632:Hif3a	UTSW	7	16,784,580 (GRCm39)	missense	possibly damaging	0.94
R5778:Hif3a	UTSW	7	16,785,909 (GRCm39)	missense	probably damaging	1.00
R5877:Hif3a	UTSW	7	16,785,071 (GRCm39)	missense	probably damaging	1.00
R5995:Hif3a	UTSW	7	16,787,694 (GRCm39)	missense	probably benign	0.10
R6001:Hif3a	UTSW	7	16,784,486 (GRCm39)	missense	probably damaging	1.00
R6599:Hif3a	UTSW	7	16,776,530 (GRCm39)	missense	possibly damaging	0.68
R7218:Hif3a	UTSW	7	16,784,513 (GRCm39)	missense	probably damaging	1.00
R7478:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7479:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7480:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7482:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7654:Hif3a	UTSW	7	16,783,021 (GRCm39)	missense	probably damaging	0.97
R7696:Hif3a	UTSW	7	16,788,712 (GRCm39)	missense	unknown
R8071:Hif3a	UTSW	7	16,782,686 (GRCm39)	missense	probably damaging	1.00
R8692:Hif3a	UTSW	7	16,788,701 (GRCm39)	missense	probably benign	0.45
R8826:Hif3a	UTSW	7	16,788,671 (GRCm39)	missense	probably damaging	1.00
R8852:Hif3a	UTSW	7	16,774,912 (GRCm39)	missense	probably benign	0.25
R8860:Hif3a	UTSW	7	16,774,912 (GRCm39)	missense	probably benign	0.25
R9653:Hif3a	UTSW	7	16,782,641 (GRCm39)	missense	probably damaging	1.00
R9784:Hif3a	UTSW	7	16,771,076 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGGCTCTTGGATTCTAAGG -3'
(R):5'- ATTTCCTTCCCACAGGTCGAAC -3'

Sequencing Primer
(F):5'- ATTCTAAGGGGTGGGGCCTC -3'
(R):5'- TCGAACACCGAGCTGCG -3'

Posted On

2015-10-21