Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Hif3a'

561592

Institutional Source

Beutler Lab

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

MOP7, Nepas, bHLHe17

MMRRC Submission

045290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R7218 (G1)

Quality Score

143.008

Status

Validated

Chromosome

Chromosomal Location

17031507-17062427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17050588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 244 (R244H)

Ref Sequence

ENSEMBL: ENSMUSP00000104132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037762] [ENSMUST00000108492] [ENSMUST00000153833]

AlphaFold

Q0VBL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037762
AA Change: R242H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: R242H

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 damaging
Transcript: ENSMUST00000108492
AA Change: R244H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: R244H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153833

SMART Domains

Protein: ENSMUSP00000117728
Gene: ENSMUSG00000004328

Domain	Start	End	E-Value	Type
HLH	20	75	1.27e-7	SMART
low complexity region	87	102	N/A	INTRINSIC

Meta Mutation Damage Score

0.5852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

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
1600014C23Rik	T	C	17: 45,733,051	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,915,508	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,145,583	S83R	probably damaging	Het
9130019O22Rik	A	T	7: 127,384,680	S417T	probably benign	Het
A430089I19Rik	C	A	5: 94,303,254	V338F	probably benign	Het
Actn2	A	G	13: 12,278,913	S574P	probably benign	Het
Ank	A	T	15: 27,544,321	Y56F	probably damaging	Het
Ano7	A	G	1: 93,380,469	D74G	probably benign	Het
Apaf1	T	A	10: 91,037,002	T738S	probably damaging	Het
Apcs	A	T	1: 172,894,664	D38E	possibly damaging	Het
Arntl	A	T	7: 113,287,183	H149L	probably damaging	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,702,981	D717V		Het
Baiap2l1	A	G	5: 144,275,877	S443P	probably benign	Het
Brix1	T	C	15: 10,483,292		probably null	Het
C1qtnf6	T	C	15: 78,527,374	E34G	probably benign	Het
Chil3	A	C	3: 106,160,537		probably null	Het
Chmp4c	T	A	3: 10,367,138	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,143,871		probably null	Het
Clec1a	C	T	6: 129,436,955	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,468,922	T95K	probably damaging	Het
Csf1r	C	A	18: 61,130,324	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,388,439	I61T	probably benign	Het
Extl1	T	G	4: 134,359,769	S493R	probably benign	Het
Fance	A	G	17: 28,326,174	D143G	probably benign	Het
Fcho2	C	T	13: 98,753,613		probably null	Het
Filip1	T	C	9: 79,818,074	S1088G	probably benign	Het
Gm10696	A	T	3: 94,175,549	H318Q	possibly damaging	Het
Gnat1	A	C	9: 107,675,985	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,852,429	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,116,454	M152L	probably benign	Het
Hivep3	T	C	4: 120,095,452	S322P	possibly damaging	Het
Il33	T	A	19: 29,958,925	F229I	probably damaging	Het
Il4ra	A	G	7: 125,575,778	D386G	probably benign	Het
Ino80	G	T	2: 119,458,127	H33N	probably benign	Het
Ip6k1	A	G	9: 108,045,582	D228G	unknown	Het
Mamdc2	C	T	19: 23,447,610	A40T	probably benign	Het
Meis3	T	C	7: 16,184,701	V357A	probably benign	Het
Mycbp2	T	C	14: 103,133,846	T4199A	probably benign	Het
Myo7b	A	T	18: 31,981,001	M1099K	probably benign	Het
Mzb1	A	T	18: 35,647,922	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,571,264	L167P	probably benign	Het
Numa1	A	T	7: 102,000,910	S1283C	probably benign	Het
Nup98	T	G	7: 102,191,900		probably null	Het
Olfr1342	T	C	4: 118,690,018	I145V	probably benign	Het
Olfr476	T	C	7: 107,967,667	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,522,695	T1243A	possibly damaging	Het
Ptpro	C	T	6: 137,454,598	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,547,364	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 139,256,133	T497P	probably damaging	Het
Rab44	T	A	17: 29,139,444	V202E		Het
Rbfox1	C	T	16: 7,294,083	T191I	probably damaging	Het
Rufy4	A	G	1: 74,133,015	K299R	probably damaging	Het
Snip1	T	A	4: 125,072,919	S381T	probably damaging	Het
Spen	T	C	4: 141,472,650	I2889V	possibly damaging	Het
St3gal3	T	A	4: 117,957,442	D218V		Het
Sun1	A	G	5: 139,226,687	T70A	unknown	Het
Tbc1d23	C	T	16: 57,170,382	V678M	probably damaging	Het
Tdh	T	A	14: 63,495,757	Y195F	probably damaging	Het
Tescl	C	T	7: 24,333,861	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,557,357	M508K	probably benign	Het
Trappc4	A	G	9: 44,405,290	M136T	probably benign	Het
Tyk2	A	G	9: 21,105,054	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,081,539	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 21,011,647	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,386,115	P570L	probably damaging	Het
Wnk1	A	C	6: 120,002,273	Y284*	probably null	Het
Yars2	C	T	16: 16,303,318	A112V	probably damaging	Het
Zer1	T	C	2: 30,105,012	N470S	probably damaging	Het
Zfp879	A	C	11: 50,832,681	V516G	possibly 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
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
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'- CTGTGATCCCCTCCTTCAGAAG -3'
(R):5'- GCCCAAAGCTAGGATGACTAC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AGCTAGGATGACTACTCACAAC -3'

Posted On

2019-06-26