Mutagenetix > Incidental Mutations

Incidental Mutation 'R1494:Hif3a'

163810

Institutional Source

Beutler Lab

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

MOP7, Nepas, bHLHe17

MMRRC Submission

039545-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R1494 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

17031507-17062427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17054722 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 108 (Y108C)

Ref Sequence

ENSEMBL: ENSMUSP00000104132 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037762
AA Change: Y106C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: Y106C

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: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: Y108C

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: ENSMUST00000139224

Predicted Effect

silent
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206290

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,090,471	E92G	probably benign	Het
Abca13	C	T	11: 9,466,429	Q4064*	probably null	Het
Abca14	G	A	7: 120,216,301	M257I	probably benign	Het
Acsm2	T	A	7: 119,575,632	C207S	probably damaging	Het
Actr3	A	G	1: 125,416,281	I67T	probably benign	Het
Adcy7	T	C	8: 88,320,207	V606A	probably benign	Het
Ahnak2	G	A	12: 112,787,950	S54F	probably damaging	Het
Ano6	T	C	15: 95,972,507	S848P	probably damaging	Het
Atg3	C	T	16: 45,171,760		probably benign	Het
Atp8b1	T	A	18: 64,564,526	S416C	probably damaging	Het
C2cd5	A	G	6: 143,041,346		probably benign	Het
Capn11	A	T	17: 45,643,809	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,598,108		probably null	Het
Chaf1b	T	A	16: 93,888,110	V149E	probably damaging	Het
Col5a2	T	A	1: 45,502,914	M1L	unknown	Het
Copa	T	C	1: 172,104,127	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,381,267	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,333,373	M828V	probably damaging	Het
Dock2	T	A	11: 34,282,761	K1080*	probably null	Het
Dock6	A	G	9: 21,814,742	V1424A	probably benign	Het
Foxa1	T	C	12: 57,542,198	D412G	probably damaging	Het
Foxp4	G	C	17: 47,880,353		probably benign	Het
Galnt9	T	A	5: 110,588,330	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,794,248	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,527,691	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,045,615	E95K	possibly damaging	Het
Grm1	T	C	10: 10,689,706	T953A	probably benign	Het
Helz	T	C	11: 107,604,063		probably benign	Het
Kcnj13	A	T	1: 87,389,217	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,095,671	V53D	probably damaging	Het
Mrps7	G	C	11: 115,604,126		probably benign	Het
Mug1	G	A	6: 121,879,300	G1013D	probably damaging	Het
Olfr652	T	A	7: 104,564,831	Y203*	probably null	Het
Olfr767	A	T	10: 129,079,615	M116K	probably damaging	Het
Pax6	T	C	2: 105,691,610	I19T	probably benign	Het
Pde8b	G	A	13: 95,047,796	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Pygl	G	A	12: 70,199,730	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,684,524	D1874V	probably damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Sncaip	T	C	18: 52,868,886	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,434,294	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,589,560	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,172,459	Y764H	probably benign	Het
Syne3	A	T	12: 104,955,582	V438E	possibly damaging	Het
Tagap1	T	C	17: 6,956,811	D162G	probably damaging	Het
Terb1	T	C	8: 104,498,490		probably benign	Het
Themis3	C	A	17: 66,559,954	R97L	probably benign	Het
Tnk1	T	A	11: 69,856,546	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,044	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,304	R725K	probably benign	Het
Ttll11	T	G	2: 35,795,379	T566P	probably damaging	Het
Unc5c	A	T	3: 141,827,549	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,295,601	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,021,503	T52I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCTGTCCCAACACACTTTGACC -3'
(R):5'- AAAGCTTAGTGGCCTTGCCCTC -3'

Sequencing Primer
(F):5'- AACACACTTTGACCTTCTGTCTG -3'
(R):5'- GGGACTCCAAGACCCTAGAATTTTC -3'

Posted On

2014-03-28