Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Hif3a'

417297

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

Nepas, MOP7, bHLHe17

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

16765432-16796352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16775047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 515 (R515H)

Ref Sequence

ENSEMBL: ENSMUSP00000048248 (fasta)

Gene Model

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

AlphaFold

Q0VBL6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037762
AA Change: R515H

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: R515H

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

possibly damaging
Transcript: ENSMUST00000108492
AA Change: R517H

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: R517H

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,178,517 (GRCm39)	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,642,120 (GRCm39)	R136I	probably damaging	Het
Acap2	A	G	16: 30,924,310 (GRCm39)	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,540,390 (GRCm39)	D706E	probably benign	Het
Bbs1	A	T	19: 4,947,621 (GRCm39)	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,342,690 (GRCm39)		probably null	Het
Car2	A	T	3: 14,960,629 (GRCm39)	D129V	probably benign	Het
Catsper2	T	C	2: 121,237,217 (GRCm39)	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,101,054 (GRCm39)	R452M	probably benign	Het
Chrm1	A	T	19: 8,656,672 (GRCm39)	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264 (GRCm39)		probably benign	Het
Coa7	A	G	4: 108,189,426 (GRCm39)	D42G	probably damaging	Het
Ctsz	T	C	2: 174,270,933 (GRCm39)	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,639,472 (GRCm39)	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,791,927 (GRCm39)	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,916,910 (GRCm39)	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,542,517 (GRCm39)	M1008K	probably benign	Het
Dsg4	T	A	18: 20,584,880 (GRCm39)	I198N	probably damaging	Het
Dtymk	C	A	1: 93,722,541 (GRCm39)	E87D	probably benign	Het
Dysf	T	A	6: 84,167,854 (GRCm39)	D1749E	probably benign	Het
Dzip3	G	T	16: 48,749,986 (GRCm39)	Q1050K	probably damaging	Het
Echs1	C	T	7: 139,690,026 (GRCm39)		probably benign	Het
Enc1	T	A	13: 97,382,978 (GRCm39)	I496N	possibly damaging	Het
Epc2	A	T	2: 49,426,658 (GRCm39)	Y139F	probably benign	Het
Exo1	A	T	1: 175,719,693 (GRCm39)	N246I	probably benign	Het
Flg2	A	G	3: 93,108,542 (GRCm39)	K190R	probably damaging	Het
Gm5424	A	T	10: 61,907,971 (GRCm39)		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,431,740 (GRCm39)	T133P	probably benign	Het
Gpr155	A	G	2: 73,180,022 (GRCm39)	F146S	probably damaging	Het
Grm1	T	A	10: 10,955,715 (GRCm39)	I190L	probably benign	Het
Itprid2	G	A	2: 79,490,796 (GRCm39)	M971I	probably damaging	Het
Kdm5b	G	A	1: 134,530,314 (GRCm39)	D442N	probably benign	Het
Manba	A	T	3: 135,223,748 (GRCm39)	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,710,981 (GRCm39)	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,382,216 (GRCm39)	L163P	probably damaging	Het
Med1	A	T	11: 98,080,006 (GRCm39)		probably null	Het
Mtrf1	T	A	14: 79,653,312 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,653,420 (GRCm39)	D365G	possibly damaging	Het
Mtrf1	C	T	14: 79,653,311 (GRCm39)		probably benign	Het
Myadm	C	T	7: 3,345,403 (GRCm39)	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,187,411 (GRCm39)	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,752,313 (GRCm39)	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,013,617 (GRCm39)	D544E	probably benign	Het
Nlrp2	A	T	7: 5,320,482 (GRCm39)	L20Q	probably damaging	Het
Or1e30	T	A	11: 73,678,309 (GRCm39)	S182T	probably benign	Het
Or8k21	A	T	2: 86,145,579 (GRCm39)	I17N	possibly damaging	Het
Or9i16	A	G	19: 13,864,801 (GRCm39)	Y258H	probably damaging	Het
Padi3	G	A	4: 140,537,909 (GRCm39)	Q4*	probably null	Het
Pfkl	A	T	10: 77,841,309 (GRCm39)	I13K	possibly damaging	Het
Pinx1	A	G	14: 64,157,018 (GRCm39)	D315G	probably benign	Het
Prickle3	A	G	X: 7,529,735 (GRCm39)	D47G	probably benign	Het
Psmd10	A	T	X: 139,857,403 (GRCm39)	V5E	probably damaging	Het
Rasgrf2	C	A	13: 92,136,098 (GRCm39)	V605F	probably damaging	Het
Smarca1	G	T	X: 46,981,146 (GRCm39)	A84D	probably damaging	Het
Sp2	A	G	11: 96,852,588 (GRCm39)	V112A	probably damaging	Het
Srgap3	G	A	6: 112,752,648 (GRCm39)	R279C	probably damaging	Het
Trav21-dv12	T	C	14: 54,113,501 (GRCm39)	L10P	unknown	Het
Vmn1r236	A	T	17: 21,507,236 (GRCm39)	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,816,372 (GRCm39)	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,575,782 (GRCm39)	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,141,682 (GRCm39)	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,589,283 (GRCm39)	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,106,298 (GRCm39)	G130*	probably null	Het

Other mutations in Hif3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Hif3a	APN	7	16,785,841 (GRCm39)	splice site	probably null
IGL02496:Hif3a	APN	7	16,773,603 (GRCm39)	splice site	probably benign
IGL02572:Hif3a	APN	7	16,784,513 (GRCm39)	missense	probably null
IGL02638:Hif3a	APN	7	16,778,293 (GRCm39)	unclassified	probably benign
IGL02704:Hif3a	APN	7	16,784,686 (GRCm39)	unclassified	probably benign
IGL03000:Hif3a	APN	7	16,782,564 (GRCm39)	missense	probably benign	0.08
R0265:Hif3a	UTSW	7	16,769,793 (GRCm39)	makesense	probably null
R0326:Hif3a	UTSW	7	16,778,325 (GRCm39)	missense	probably benign	0.01
R0396:Hif3a	UTSW	7	16,785,946 (GRCm39)	splice site	probably benign
R1494:Hif3a	UTSW	7	16,788,647 (GRCm39)	missense	probably damaging	1.00
R1529:Hif3a	UTSW	7	16,776,564 (GRCm39)	missense	probably benign	0.02
R1548:Hif3a	UTSW	7	16,778,328 (GRCm39)	missense	probably benign	0.00
R1686:Hif3a	UTSW	7	16,778,789 (GRCm39)	missense	possibly damaging	0.46
R1916:Hif3a	UTSW	7	16,773,581 (GRCm39)	missense	possibly damaging	0.87
R2026:Hif3a	UTSW	7	16,778,322 (GRCm39)	missense	possibly damaging	0.81
R2032:Hif3a	UTSW	7	16,785,104 (GRCm39)	missense	probably damaging	1.00
R2354:Hif3a	UTSW	7	16,775,030 (GRCm39)	missense	probably damaging	1.00
R3693:Hif3a	UTSW	7	16,774,999 (GRCm39)	missense	probably damaging	1.00
R3780:Hif3a	UTSW	7	16,788,638 (GRCm39)	missense	probably damaging	1.00
R3921:Hif3a	UTSW	7	16,771,097 (GRCm39)	missense	possibly damaging	0.80
R4003:Hif3a	UTSW	7	16,778,844 (GRCm39)	missense	probably damaging	0.99
R4714:Hif3a	UTSW	7	16,790,196 (GRCm39)	missense	probably damaging	1.00
R4953:Hif3a	UTSW	7	16,784,490 (GRCm39)	missense	probably damaging	0.98
R5632:Hif3a	UTSW	7	16,784,580 (GRCm39)	missense	possibly damaging	0.94
R5778:Hif3a	UTSW	7	16,785,909 (GRCm39)	missense	probably damaging	1.00
R5877:Hif3a	UTSW	7	16,785,071 (GRCm39)	missense	probably damaging	1.00
R5995:Hif3a	UTSW	7	16,787,694 (GRCm39)	missense	probably benign	0.10
R6001:Hif3a	UTSW	7	16,784,486 (GRCm39)	missense	probably damaging	1.00
R6599:Hif3a	UTSW	7	16,776,530 (GRCm39)	missense	possibly damaging	0.68
R7218:Hif3a	UTSW	7	16,784,513 (GRCm39)	missense	probably damaging	1.00
R7478:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7479:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7480:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7482:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7654:Hif3a	UTSW	7	16,783,021 (GRCm39)	missense	probably damaging	0.97
R7696:Hif3a	UTSW	7	16,788,712 (GRCm39)	missense	unknown
R8071:Hif3a	UTSW	7	16,782,686 (GRCm39)	missense	probably damaging	1.00
R8692:Hif3a	UTSW	7	16,788,701 (GRCm39)	missense	probably benign	0.45
R8826:Hif3a	UTSW	7	16,788,671 (GRCm39)	missense	probably damaging	1.00
R8852:Hif3a	UTSW	7	16,774,912 (GRCm39)	missense	probably benign	0.25
R8860:Hif3a	UTSW	7	16,774,912 (GRCm39)	missense	probably benign	0.25
R9653:Hif3a	UTSW	7	16,782,641 (GRCm39)	missense	probably damaging	1.00
R9784:Hif3a	UTSW	7	16,771,076 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02