Mutagenetix > Incidental Mutation

Incidental Mutation 'R7479:Hif3a'

579668

Institutional Source

Beutler Lab

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

Nepas, MOP7, bHLHe17

MMRRC Submission

045553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R7479 (G1)

Quality Score

225.009

Status

Not 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: 99.9%
10x: 99.5%
20x: 98.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,142 (GRCm39)	M81L	probably benign	Het
Ano9	T	C	7: 140,682,348 (GRCm39)	T667A	probably damaging	Het
Anpep	T	A	7: 79,485,118 (GRCm39)	I623F	probably benign	Het
Apba2	T	C	7: 64,389,607 (GRCm39)	I501T	possibly damaging	Het
Ascc3	T	A	10: 50,525,895 (GRCm39)	Y536N	probably damaging	Het
B4galt1	T	C	4: 40,823,587 (GRCm39)	Y168C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2	A	G	17: 35,082,441 (GRCm39)	C647R	probably damaging	Het
Cnot4	G	A	6: 35,001,083 (GRCm39)	T604I	probably benign	Het
Col11a1	C	T	3: 113,896,218 (GRCm39)	T506I	unknown	Het
Cr2	A	C	1: 194,840,718 (GRCm39)		probably null	Het
Ctsm	A	T	13: 61,685,569 (GRCm39)	V281D	probably damaging	Het
Cyp2c69	T	C	19: 39,870,001 (GRCm39)	I74V	probably benign	Het
Dennd4c	T	A	4: 86,717,590 (GRCm39)	V529D	probably damaging	Het
Dlgap3	C	A	4: 127,088,418 (GRCm39)	H5N	possibly damaging	Het
Dusp10	C	A	1: 183,769,617 (GRCm39)	H194Q	probably damaging	Het
Eln	C	G	5: 134,736,429 (GRCm39)	G753A	unknown	Het
Emb	T	A	13: 117,385,962 (GRCm39)	N118K	possibly damaging	Het
Fam184a	C	T	10: 53,531,110 (GRCm39)	V755I	probably benign	Het
Fryl	A	G	5: 73,254,904 (GRCm39)	I846T	possibly damaging	Het
Gabbr2	T	A	4: 46,681,166 (GRCm39)	I722F	probably damaging	Het
Gabrb3	T	A	7: 57,474,171 (GRCm39)	D362E	possibly damaging	Het
Galnt2	G	A	8: 125,061,077 (GRCm39)	G357D	probably damaging	Het
Gbx2	A	T	1: 89,858,373 (GRCm39)	S35R	probably benign	Het
Glg1	A	G	8: 111,924,367 (GRCm39)	I207T	possibly damaging	Het
Gm10192	A	T	4: 97,071,272 (GRCm39)	N44K	unknown	Het
Gpd1	A	G	15: 99,617,984 (GRCm39)	D123G	probably benign	Het
Grm2	A	T	9: 106,531,050 (GRCm39)	D146E	possibly damaging	Het
Gsg1l2	A	G	11: 67,676,032 (GRCm39)	D132G	probably benign	Het
Hecw1	C	T	13: 14,515,425 (GRCm39)	G236R	probably damaging	Het
Hspg2	C	T	4: 137,266,714 (GRCm39)	A1934V	probably benign	Het
Il7r	C	T	15: 9,513,117 (GRCm39)	A131T	probably damaging	Het
Itga6	C	T	2: 71,668,680 (GRCm39)	R540*	probably null	Het
Kcnh2	A	G	5: 24,530,490 (GRCm39)		probably null	Het
Kcnq4	C	T	4: 120,573,022 (GRCm39)	A260T	probably damaging	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrrc41	C	T	4: 115,946,238 (GRCm39)	P318S	probably damaging	Het
Map4	G	A	9: 109,897,892 (GRCm39)	G873R	possibly damaging	Het
Med24	A	G	11: 98,595,787 (GRCm39)	I968T	possibly damaging	Het
Mfap5	T	C	6: 122,503,821 (GRCm39)		probably null	Het
Mtcl1	A	G	17: 66,686,485 (GRCm39)	V807A	probably benign	Het
Mug1	T	A	6: 121,855,467 (GRCm39)	S934T	possibly damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nkx2-4	T	C	2: 146,926,088 (GRCm39)	E258G	probably benign	Het
Polr1a	T	A	6: 71,913,281 (GRCm39)	V545E	probably damaging	Het
Ppp1r9b	A	G	11: 94,882,858 (GRCm39)	D162G	possibly damaging	Het
Rhot2	A	G	17: 26,059,723 (GRCm39)	L367P	probably damaging	Het
Ripk2	A	G	4: 16,155,154 (GRCm39)	F122L	probably benign	Het
Scn11a	T	C	9: 119,588,941 (GRCm39)	T1322A	probably benign	Het
Scn8a	T	A	15: 100,853,358 (GRCm39)	L115Q	probably damaging	Het
Sel1l3	G	T	5: 53,274,462 (GRCm39)	P1006Q	probably damaging	Het
Septin11	A	T	5: 93,304,804 (GRCm39)	N207I	probably damaging	Het
Sez6l2	C	T	7: 126,562,831 (GRCm39)	T669I	probably damaging	Het
Sfxn4	T	A	19: 60,847,112 (GRCm39)	D57V	possibly damaging	Het
Smarca2	T	A	19: 26,617,887 (GRCm39)	V306D	probably benign	Het
Srgap3	C	T	6: 112,712,794 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,541 (GRCm39)	F7L	not run	Het
Tbcd	T	C	11: 121,383,431 (GRCm39)		probably null	Het
Tcn2	G	A	11: 3,867,703 (GRCm39)	A413V	probably damaging	Het
Tdp1	T	C	12: 99,857,654 (GRCm39)	V71A	probably benign	Het
Tjp1	T	C	7: 64,950,928 (GRCm39)	T1649A	probably damaging	Het
Tnc	T	C	4: 63,935,865 (GRCm39)	E357G	possibly damaging	Het
Tnrc6b	A	G	15: 80,773,327 (GRCm39)	T1158A	probably benign	Het
Ttn	C	A	2: 76,568,952 (GRCm39)	E27314*	probably null	Het
Vps35	G	T	8: 85,997,434 (GRCm39)	T512K	probably benign	Het
Zfp40	A	T	17: 23,396,292 (GRCm39)	S98R	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp945	A	T	17: 23,070,340 (GRCm39)	C541S	possibly damaging	Het
Zfp976	T	A	7: 42,262,603 (GRCm39)	E412D	probably benign	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
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'- CAGCCAATGAAACCATGGTCTACTA -3'
(R):5'- CATTGCTGTTTGACCTCTTGTAA -3'

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

Posted On

2019-10-07