Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Hif3a'

299042

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: 0.238) question?

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

17031507-17062427 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17050588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 25 (R25L)

Gene Model

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

AlphaFold

Q0VBL6

Predicted Effect

probably benign
Transcript: ENSMUST00000037762
AA Change: R242L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: R242L

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: R244L

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

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: R244L

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 null
Transcript: ENSMUST00000139224
AA Change: R25L

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,725,171	N92S	probably damaging	Het
Abca2	T	C	2: 25,433,317	L99P	possibly damaging	Het
Adam19	T	A	11: 46,131,721	Y500*	probably null	Het
Amy1	A	T	3: 113,565,073		probably benign	Het
Aox3	T	C	1: 58,158,367	I624T	probably damaging	Het
Atad3a	C	T	4: 155,753,584	D244N	possibly damaging	Het
Atp5j2	C	A	5: 145,187,237		probably benign	Het
Bbof1	G	A	12: 84,428,365	D443N	probably damaging	Het
BC017158	A	T	7: 128,290,580		probably benign	Het
Bod1l	G	A	5: 41,821,230	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,066,579		probably benign	Het
Cgref1	A	G	5: 30,933,567	V301A	probably benign	Het
Coa6	T	C	8: 126,422,741	Y19H	probably damaging	Het
Cop1	T	A	1: 159,308,878		probably benign	Het
Dmrta1	T	C	4: 89,691,558	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,184,629	S484A	probably benign	Het
Dspp	A	T	5: 104,177,069	S433C	probably damaging	Het
Efcab5	G	A	11: 77,137,888	R206*	probably null	Het
Epop	A	T	11: 97,628,201	S361T	probably benign	Het
Fat3	T	A	9: 15,960,506	T3530S	probably benign	Het
Flvcr1	A	G	1: 191,025,646	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,992,003	S6027A	probably benign	Het
Galnt14	A	G	17: 73,535,267	L209P	probably damaging	Het
Hsf5	A	G	11: 87,631,695		probably benign	Het
Il22ra2	A	T	10: 19,626,744	T104S	probably benign	Het
Klrk1	A	G	6: 129,615,353	S138P	probably damaging	Het
Lrp5	G	T	19: 3,614,283	Q815K	probably benign	Het
Morn4	A	G	19: 42,076,447		probably benign	Het
Nlrp14	T	A	7: 107,182,722	Y375*	probably null	Het
Nsd1	T	A	13: 55,296,130	M1714K	probably damaging	Het
Olfr171	T	A	16: 19,625,098	M1L	probably benign	Het
Olfr259	G	A	2: 87,108,366	T7I	possibly damaging	Het
Olfr806	T	A	10: 129,738,866	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,851,216	A877T	probably benign	Het
Pcsk2	G	A	2: 143,690,342	A137T	probably damaging	Het
Piezo1	A	G	8: 122,485,305	V2054A	probably benign	Het
Rad52	A	G	6: 119,915,227		probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sbno1	A	G	5: 124,381,677		probably benign	Het
Scrn1	C	T	6: 54,512,201	D312N	probably benign	Het
Sin3b	A	G	8: 72,744,481	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,664,446	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,926,296	M151V	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stra8	G	A	6: 34,939,159	D280N	probably damaging	Het
Thbs2	A	T	17: 14,677,013	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,531,889	T27A	probably benign	Het
Tmem38a	T	C	8: 72,579,974	F99S	probably damaging	Het
Tmod3	T	C	9: 75,509,385	T222A	probably benign	Het
Tnn	A	G	1: 160,086,107	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,849,159	I829N	probably damaging	Het
Trpm5	A	T	7: 143,087,876		probably benign	Het
Ttn	A	G	2: 76,767,871	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,203,058	D81G	probably damaging	Het
Zdhhc20	A	G	14: 57,890,107	V25A	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
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
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

Posted On

2015-04-16