Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Hif3a'

295873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

MOP7, Nepas, bHLHe17

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

17031507-17062427 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 17039678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104132 (fasta)

Gene Model

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

AlphaFold

Q0VBL6

Predicted Effect

probably benign
Transcript: ENSMUST00000037762

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328

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 benign
Transcript: ENSMUST00000108492

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328

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

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
Abca12	T	G	1: 71,288,553 (GRCm38)	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604 (GRCm38)	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943 (GRCm38)	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613 (GRCm38)	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293 (GRCm38)	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495 (GRCm38)	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243 (GRCm38)		probably benign	Het
Csn1s1	C	T	5: 87,677,594 (GRCm38)		probably benign	Het
Cul9	G	T	17: 46,540,376 (GRCm38)	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705 (GRCm38)	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363 (GRCm38)	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391 (GRCm38)	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883 (GRCm38)	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919 (GRCm38)		probably benign	Het
Flnc	G	T	6: 29,440,685 (GRCm38)	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761 (GRCm38)	S445G	probably benign	Het
Hsd17b4	T	C	18: 50,155,153 (GRCm38)	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946 (GRCm38)	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687 (GRCm38)	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928 (GRCm38)	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201 (GRCm38)	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644 (GRCm38)	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558 (GRCm38)		probably benign	Het
Mmp20	A	G	9: 7,654,041 (GRCm38)	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655 (GRCm38)	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631 (GRCm38)	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043 (GRCm38)		probably benign	Het
Ocrl	G	A	X: 47,933,438 (GRCm38)	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192 (GRCm38)	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804 (GRCm38)	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168 (GRCm38)	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002 (GRCm38)		probably null	Het
Parp8	T	C	13: 116,862,302 (GRCm38)		probably benign	Het
Pcdhb6	A	G	18: 37,335,454 (GRCm38)	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376 (GRCm38)	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094 (GRCm38)	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663 (GRCm38)	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383 (GRCm38)		probably benign	Het
Pmaip1	A	G	18: 66,463,299 (GRCm38)	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666 (GRCm38)	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407 (GRCm38)	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484 (GRCm38)	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144 (GRCm38)	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003 (GRCm38)	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879 (GRCm38)	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726 (GRCm38)	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425 (GRCm38)		probably null	Het
Sipa1l1	T	A	12: 82,425,094 (GRCm38)	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485 (GRCm38)	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400 (GRCm38)	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088 (GRCm38)	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481 (GRCm38)	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448 (GRCm38)	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662 (GRCm38)	V704L	probably benign	Het
St5	C	A	7: 109,556,235 (GRCm38)	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492 (GRCm38)	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418 (GRCm38)	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335 (GRCm38)	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561 (GRCm38)	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654 (GRCm38)	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823 (GRCm38)		probably benign	Het
Vmn1r8	G	T	6: 57,036,571 (GRCm38)	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856 (GRCm38)	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431 (GRCm38)		probably benign	Het
Wfdc1	T	G	8: 119,680,170 (GRCm38)	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794 (GRCm38)	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395 (GRCm38)	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992 (GRCm38)	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042 (GRCm38)	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630 (GRCm38)	C731S	possibly damaging	Het

Other mutations in Hif3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Hif3a	APN	7	17,051,916 (GRCm38)	splice site	probably null
IGL02572:Hif3a	APN	7	17,050,588 (GRCm38)	missense	probably null
IGL02638:Hif3a	APN	7	17,044,368 (GRCm38)	unclassified	probably benign
IGL02704:Hif3a	APN	7	17,050,761 (GRCm38)	unclassified	probably benign
IGL03000:Hif3a	APN	7	17,048,639 (GRCm38)	missense	probably benign	0.08
IGL03342:Hif3a	APN	7	17,041,122 (GRCm38)	missense	possibly damaging	0.92
R0265:Hif3a	UTSW	7	17,035,868 (GRCm38)	makesense	probably null
R0326:Hif3a	UTSW	7	17,044,400 (GRCm38)	missense	probably benign	0.01
R0396:Hif3a	UTSW	7	17,052,021 (GRCm38)	splice site	probably benign
R1494:Hif3a	UTSW	7	17,054,722 (GRCm38)	missense	probably damaging	1.00
R1529:Hif3a	UTSW	7	17,042,639 (GRCm38)	missense	probably benign	0.02
R1548:Hif3a	UTSW	7	17,044,403 (GRCm38)	missense	probably benign	0.00
R1686:Hif3a	UTSW	7	17,044,864 (GRCm38)	missense	possibly damaging	0.46
R1916:Hif3a	UTSW	7	17,039,656 (GRCm38)	missense	possibly damaging	0.87
R2026:Hif3a	UTSW	7	17,044,397 (GRCm38)	missense	possibly damaging	0.81
R2032:Hif3a	UTSW	7	17,051,179 (GRCm38)	missense	probably damaging	1.00
R2354:Hif3a	UTSW	7	17,041,105 (GRCm38)	missense	probably damaging	1.00
R3693:Hif3a	UTSW	7	17,041,074 (GRCm38)	missense	probably damaging	1.00
R3780:Hif3a	UTSW	7	17,054,713 (GRCm38)	missense	probably damaging	1.00
R3921:Hif3a	UTSW	7	17,037,172 (GRCm38)	missense	possibly damaging	0.80
R4003:Hif3a	UTSW	7	17,044,919 (GRCm38)	missense	probably damaging	0.99
R4714:Hif3a	UTSW	7	17,056,271 (GRCm38)	missense	probably damaging	1.00
R4953:Hif3a	UTSW	7	17,050,565 (GRCm38)	missense	probably damaging	0.98
R5632:Hif3a	UTSW	7	17,050,655 (GRCm38)	missense	possibly damaging	0.94
R5778:Hif3a	UTSW	7	17,051,984 (GRCm38)	missense	probably damaging	1.00
R5877:Hif3a	UTSW	7	17,051,146 (GRCm38)	missense	probably damaging	1.00
R5995:Hif3a	UTSW	7	17,053,769 (GRCm38)	missense	probably benign	0.10
R6001:Hif3a	UTSW	7	17,050,561 (GRCm38)	missense	probably damaging	1.00
R6599:Hif3a	UTSW	7	17,042,605 (GRCm38)	missense	possibly damaging	0.68
R7218:Hif3a	UTSW	7	17,050,588 (GRCm38)	missense	probably damaging	1.00
R7478:Hif3a	UTSW	7	17,042,635 (GRCm38)	missense	possibly damaging	0.47
R7479:Hif3a	UTSW	7	17,042,635 (GRCm38)	missense	possibly damaging	0.47
R7480:Hif3a	UTSW	7	17,042,635 (GRCm38)	missense	possibly damaging	0.47
R7482:Hif3a	UTSW	7	17,042,635 (GRCm38)	missense	possibly damaging	0.47
R7654:Hif3a	UTSW	7	17,049,096 (GRCm38)	missense	probably damaging	0.97
R7696:Hif3a	UTSW	7	17,054,787 (GRCm38)	missense	unknown
R8071:Hif3a	UTSW	7	17,048,761 (GRCm38)	missense	probably damaging	1.00
R8692:Hif3a	UTSW	7	17,054,776 (GRCm38)	missense	probably benign	0.45
R8826:Hif3a	UTSW	7	17,054,746 (GRCm38)	missense	probably damaging	1.00
R8852:Hif3a	UTSW	7	17,040,987 (GRCm38)	missense	probably benign	0.25
R8860:Hif3a	UTSW	7	17,040,987 (GRCm38)	missense	probably benign	0.25
R9653:Hif3a	UTSW	7	17,048,716 (GRCm38)	missense	probably damaging	1.00
R9784:Hif3a	UTSW	7	17,037,151 (GRCm38)	missense	probably benign	0.00

Posted On

2015-04-16