Mutagenetix > Incidental Mutations

Incidental Mutation 'R7478:Hif3a'

579606

Institutional Source

Beutler Lab

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

MOP7, Nepas, bHLHe17

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R7478 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17031507-17062427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17042635 bp

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]

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: 99.6%
20x: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	G	6: 29,903,267	R516G	probably damaging	Het
Ak9	T	C	10: 41,389,091	F948S		Het
Aldh3b3	A	G	19: 3,964,549	M95V	probably benign	Het
Ankrd34a	T	C	3: 96,598,500	L340P	possibly damaging	Het
Arid1a	T	A	4: 133,685,171	R1186W	unknown	Het
Arpc4	T	A	6: 113,384,131	M95K	possibly damaging	Het
Atrnl1	A	G	19: 57,696,312	E790G	possibly damaging	Het
C130074G19Rik	T	C	1: 184,874,427	N103D	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Camsap2	T	C	1: 136,270,940	T782A		Het
Catsperd	A	G	17: 56,664,055	I706M	probably benign	Het
Cbx2	T	C	11: 119,029,115	V502A	probably damaging	Het
Cd72	T	G	4: 43,454,515	I5L	possibly damaging	Het
Celsr3	A	G	9: 108,843,578	Y2609C	probably benign	Het
Col19a1	C	T	1: 24,317,707	G632R	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Efcc1	T	C	6: 87,730,990	V33A	probably damaging	Het
Eif4enif1	T	A	11: 3,227,709	L367*	probably null	Het
Eml2	T	A	7: 19,206,141	L627*	probably null	Het
F13b	A	G	1: 139,507,695	T193A	probably benign	Het
Ifna7	T	A	4: 88,816,676	I150N	probably damaging	Het
Man2b2	G	A	5: 36,810,313	H904Y	probably damaging	Het
Midn	A	G	10: 80,155,322	T389A	possibly damaging	Het
Myo19	A	T	11: 84,885,800	H94L	probably benign	Het
Naglu	T	C	11: 101,071,899	Y177H	probably damaging	Het
Nek1	T	A	8: 61,130,145	D1272E	probably benign	Het
Nxn	A	T	11: 76,261,552	V372E	probably damaging	Het
Obscn	G	A	11: 59,093,416	R1738C	probably damaging	Het
Pcm1	A	G	8: 41,261,373	E266G	probably benign	Het
Pkd1l1	T	C	11: 8,929,441	N920S		Het
Pkd1l3	C	A	8: 109,633,315	T944K	probably damaging	Het
Prl7d1	C	A	13: 27,710,185	E133*	probably null	Het
Qser1	G	A	2: 104,789,514	L228F	probably damaging	Het
Rasa3	A	G	8: 13,614,605	I69T	possibly damaging	Het
Rb1	A	T	14: 73,269,137	S391T	probably damaging	Het
Rnf220	T	C	4: 117,296,136	Y301C	possibly damaging	Het
Sertm1	A	G	3: 54,899,328	V92A	possibly damaging	Het
Slfn5	A	G	11: 82,960,616	K580E	probably damaging	Het
Stard4	T	C	18: 33,205,324	Y111C	unknown	Het
Tagap	C	A	17: 7,933,590	Q536K	possibly damaging	Het
Tank	T	C	2: 61,650,169	C351R	probably damaging	Het
Tarbp2	A	T	15: 102,521,734	M144L	probably benign	Het
Tdrd9	T	C	12: 111,985,042	Y89H	probably damaging	Het
Tecpr2	C	A	12: 110,968,439	T1373K	probably benign	Het
Tle1	G	A	4: 72,137,112	P434L	probably damaging	Het
Tmed5	A	G	5: 108,124,629	V201A	probably benign	Het
Ust	A	G	10: 8,390,886		probably null	Het
Vmn2r94	T	C	17: 18,257,505	T215A	probably benign	Het
Zfp273	A	T	13: 67,825,132	Q126H	probably benign	Het

Other mutations in Hif3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Hif3a	APN	7	17051916	splice site	probably null
IGL02496:Hif3a	APN	7	17039678	splice site	probably benign
IGL02572:Hif3a	APN	7	17050588	missense	probably null
IGL02638:Hif3a	APN	7	17044368	unclassified	probably benign
IGL02704:Hif3a	APN	7	17050761	unclassified	probably benign
IGL03000:Hif3a	APN	7	17048639	missense	probably benign	0.08
IGL03342:Hif3a	APN	7	17041122	missense	possibly damaging	0.92
R0265:Hif3a	UTSW	7	17035868	makesense	probably null
R0326:Hif3a	UTSW	7	17044400	missense	probably benign	0.01
R0396:Hif3a	UTSW	7	17052021	splice site	probably benign
R1494:Hif3a	UTSW	7	17054722	missense	probably damaging	1.00
R1529:Hif3a	UTSW	7	17042639	missense	probably benign	0.02
R1548:Hif3a	UTSW	7	17044403	missense	probably benign	0.00
R1686:Hif3a	UTSW	7	17044864	missense	possibly damaging	0.46
R1916:Hif3a	UTSW	7	17039656	missense	possibly damaging	0.87
R2026:Hif3a	UTSW	7	17044397	missense	possibly damaging	0.81
R2032:Hif3a	UTSW	7	17051179	missense	probably damaging	1.00
R2354:Hif3a	UTSW	7	17041105	missense	probably damaging	1.00
R3693:Hif3a	UTSW	7	17041074	missense	probably damaging	1.00
R3780:Hif3a	UTSW	7	17054713	missense	probably damaging	1.00
R3921:Hif3a	UTSW	7	17037172	missense	possibly damaging	0.80
R4003:Hif3a	UTSW	7	17044919	missense	probably damaging	0.99
R4714:Hif3a	UTSW	7	17056271	missense	probably damaging	1.00
R4953:Hif3a	UTSW	7	17050565	missense	probably damaging	0.98
R5632:Hif3a	UTSW	7	17050655	missense	possibly damaging	0.94
R5778:Hif3a	UTSW	7	17051984	missense	probably damaging	1.00
R5877:Hif3a	UTSW	7	17051146	missense	probably damaging	1.00
R5995:Hif3a	UTSW	7	17053769	missense	probably benign	0.10
R6001:Hif3a	UTSW	7	17050561	missense	probably damaging	1.00
R6599:Hif3a	UTSW	7	17042605	missense	possibly damaging	0.68
R7218:Hif3a	UTSW	7	17050588	missense	probably damaging	1.00
R7479:Hif3a	UTSW	7	17042635	missense	possibly damaging	0.47
R7480:Hif3a	UTSW	7	17042635	missense	possibly damaging	0.47
R7482:Hif3a	UTSW	7	17042635	missense	possibly damaging	0.47
R7654:Hif3a	UTSW	7	17049096	missense	probably damaging	0.97
R7696:Hif3a	UTSW	7	17054787	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCAATGAAACCATGGTCT -3'
(R):5'- CATTGCTGTTTGACCTCTTGTAA -3'

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

Posted On

2019-10-07