Mutagenetix > Incidental Mutation

Incidental Mutation 'R7480:Hif3a'

579733

Institutional Source

Beutler Lab

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

Nepas, MOP7, bHLHe17

MMRRC Submission

045554-MU

Accession Numbers

Essential gene?

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

Stock #

R7480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16765432-16796352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 16776560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 462 (T462I)

Ref Sequence

ENSEMBL: ENSMUSP00000104132 (fasta)

Gene Model

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

AlphaFold

Q0VBL6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037762
AA Change: T460I

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: T460I

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

possibly damaging
Transcript: ENSMUST00000108492
AA Change: T462I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: T462I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	T	G	9: 50,733,928 (GRCm39)	M542R	probably benign	Het
Apol10b	G	T	15: 77,472,988 (GRCm39)	A22D	probably benign	Het
Arhgap45	T	A	10: 79,862,936 (GRCm39)	L704*	probably null	Het
Bicc1	T	C	10: 70,779,306 (GRCm39)	D694G	probably damaging	Het
C1ql3	A	T	2: 13,015,150 (GRCm39)	I170N	probably damaging	Het
Casz1	T	C	4: 149,029,043 (GRCm39)	F1163L	probably damaging	Het
Ces2f	A	G	8: 105,681,338 (GRCm39)	K559R	possibly damaging	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Cr2	C	T	1: 194,836,484 (GRCm39)	C893Y	probably damaging	Het
Csf1r	T	G	18: 61,250,610 (GRCm39)	D440E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dapk1	A	G	13: 60,905,311 (GRCm39)	D1007G	probably benign	Het
Dlk1	T	A	12: 109,421,540 (GRCm39)	C85S	probably damaging	Het
Epb41l3	A	C	17: 69,568,867 (GRCm39)		probably null	Het
Eri2	T	A	7: 119,385,734 (GRCm39)	R256*	probably null	Het
Fshr	A	C	17: 89,292,802 (GRCm39)	Y625*	probably null	Het
Galk2	A	G	2: 125,788,845 (GRCm39)	I300V	probably benign	Het
Garin1a	G	A	6: 29,281,435 (GRCm39)		probably null	Het
Gm3409	T	A	5: 146,476,311 (GRCm39)	V154E	probably damaging	Het
Gm7356	A	G	17: 14,221,327 (GRCm39)	I234T	possibly damaging	Het
Gtf3c1	T	C	7: 125,241,713 (GRCm39)	Y1995C	probably benign	Het
Herc6	C	T	6: 57,558,206 (GRCm39)	T62I	possibly damaging	Het
Hmcn1	A	T	1: 150,552,985 (GRCm39)		probably null	Het
Iqca1l	T	G	5: 24,751,904 (GRCm39)	E498A	probably damaging	Het
Jrk	G	T	15: 74,578,902 (GRCm39)	P128T	probably benign	Het
Kctd14	T	C	7: 97,107,431 (GRCm39)	F229L	probably benign	Het
Kif27	A	T	13: 58,436,025 (GRCm39)	V1256E	probably benign	Het
Klk13	T	C	7: 43,370,846 (GRCm39)	S133P	probably benign	Het
Mpzl1	A	G	1: 165,432,257 (GRCm39)	V176A	possibly damaging	Het
Mxi1	A	G	19: 53,360,066 (GRCm39)	T263A	possibly damaging	Het
Nfxl1	C	T	5: 72,716,595 (GRCm39)	W5*	probably null	Het
Nt5dc1	C	T	10: 34,200,450 (GRCm39)	G190R	probably damaging	Het
Nt5dc1	C	A	10: 34,200,449 (GRCm39)	G190V	probably damaging	Het
Oprd1	A	G	4: 131,844,492 (GRCm39)	I172T	possibly damaging	Het
Or1f19	A	T	16: 3,410,493 (GRCm39)	T78S	probably benign	Het
Or4k38	A	G	2: 111,165,737 (GRCm39)	S229P	probably benign	Het
Or6f1	A	G	7: 85,970,888 (GRCm39)	S91P	probably benign	Het
Or7e173	C	T	9: 19,939,230 (GRCm39)	M1I	probably null	Het
Pafah1b1	A	C	11: 74,576,740 (GRCm39)	C184G	probably damaging	Het
Pde5a	A	T	3: 122,596,797 (GRCm39)	N495Y	possibly damaging	Het
Piezo1	A	T	8: 123,225,234 (GRCm39)	Y588*	probably null	Het
Plekha7	A	T	7: 115,736,403 (GRCm39)		probably null	Het
Pramel11	T	C	4: 143,622,065 (GRCm39)	D430G	probably benign	Het
Prdm11	T	C	2: 92,805,669 (GRCm39)	K427R	probably benign	Het
Rai14	C	A	15: 10,571,622 (GRCm39)	E940D	probably benign	Het
Rasl11b	T	A	5: 74,358,771 (GRCm39)	V92E	possibly damaging	Het
Rassf8	T	A	6: 145,765,757 (GRCm39)	I29K	unknown	Het
Reg3a	C	T	6: 78,359,330 (GRCm39)	T110I	probably damaging	Het
Scaf1	C	T	7: 44,657,073 (GRCm39)	G602D	unknown	Het
Senp6	T	C	9: 80,029,199 (GRCm39)	C521R	probably damaging	Het
Senp7	G	A	16: 55,975,589 (GRCm39)	V432I	possibly damaging	Het
Skint8	A	T	4: 111,785,784 (GRCm39)	R77*	probably null	Het
Slamf9	G	A	1: 172,305,040 (GRCm39)	C218Y	probably damaging	Het
Slc8a1	T	C	17: 81,956,649 (GRCm39)	T130A	probably damaging	Het
Smpdl3a	A	G	10: 57,678,574 (GRCm39)	I126V	possibly damaging	Het
Taar9	T	A	10: 23,984,843 (GRCm39)	N197I	possibly damaging	Het
Tango6	A	T	8: 107,423,359 (GRCm39)	D378V	possibly damaging	Het
Tfb2m	A	G	1: 179,356,747 (GRCm39)	F396L	probably benign	Het
Thbs4	G	A	13: 92,903,729 (GRCm39)	P429L	probably benign	Het
Tnxb	A	G	17: 34,934,747 (GRCm39)	D2452G	probably damaging	Het
Ulk3	C	T	9: 57,498,523 (GRCm39)	R131*	probably null	Het
Vmn1r179	A	T	7: 23,628,558 (GRCm39)	R250*	probably null	Het
Vmn1r54	A	G	6: 90,246,160 (GRCm39)	I25V	possibly damaging	Het
Wnt7a	C	A	6: 91,371,395 (GRCm39)	R189L	probably benign	Het
Wrap73	A	G	4: 154,237,043 (GRCm39)	D210G	probably benign	Het
Xpo6	G	A	7: 125,701,505 (GRCm39)	R1112*	probably null	Het
Zfp114	T	A	7: 23,881,307 (GRCm39)	V552D	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R4714:Hif3a	UTSW	7	16,790,196 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCCAATGAAACCATGGTCTACTA -3'
(R):5'- GCATTGCTGTTTGACCTCTTGTA -3'

Sequencing Primer
(F):5'- CACACATATCTATCTAATCTGTCACC -3'
(R):5'- TGTAATCTTCAGCCTAAGACCC -3'

Posted On

2019-10-07