Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Hif3a'

34847

Institutional Source

Beutler Lab

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

MOP7, Nepas, bHLHe17

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R0265 (G1)

Quality Score

105

Status

Validated

Chromosome

Chromosomal Location

17031507-17062427 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 17035868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 665 (*665W)

Ref Sequence

ENSEMBL: ENSMUSP00000104132 (fasta)

Gene Model

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

AlphaFold

Q0VBL6

Predicted Effect

probably null
Transcript: ENSMUST00000037762
AA Change: *663W

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: *663W

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 null
Transcript: ENSMUST00000108492
AA Change: *665W

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: *665W

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

Meta Mutation Damage Score

0.8274

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952		probably null	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Skor2	A	T	18: 76,876,598	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204		probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	probably damaging	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
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
R7478:Hif3a	UTSW	7	17042635	missense	possibly damaging	0.47
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
R8071:Hif3a	UTSW	7	17048761	missense	probably damaging	1.00
R8692:Hif3a	UTSW	7	17054776	missense	probably benign	0.45
R8826:Hif3a	UTSW	7	17054746	missense	probably damaging	1.00
R8852:Hif3a	UTSW	7	17040987	missense	probably benign	0.25
R8860:Hif3a	UTSW	7	17040987	missense	probably benign	0.25
R9653:Hif3a	UTSW	7	17048716	missense	probably damaging	1.00
R9784:Hif3a	UTSW	7	17037151	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGAGCTGAGAATACCCAAGAAGCC -3'
(R):5'- GTGTCCGAGAAACACCTCCTTCTG -3'

Sequencing Primer
(F):5'- CAAGAAGCCTCCGACTGG -3'
(R):5'- agcaaacacctgaacccc -3'

Posted On

2013-05-09