Incidental Mutation 'R0265:Hif3a'
ID 34847
Institutional Source Beutler Lab
Gene Symbol Hif3a
Ensembl Gene ENSMUSG00000004328
Gene Name hypoxia inducible factor 3, alpha subunit
Synonyms Nepas, MOP7, bHLHe17
MMRRC Submission 038491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R0265 (G1)
Quality Score 105
Status Validated
Chromosome 7
Chromosomal Location 16765432-16796352 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 16769793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 665 (*665W)
Ref Sequence ENSEMBL: ENSMUSP00000104132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037762] [ENSMUST00000108492]
AlphaFold Q0VBL6
Predicted Effect probably null
Transcript: ENSMUST00000037762
AA Change: *663W
SMART Domains Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: *663W

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000108492
AA Change: *665W
SMART Domains Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: *665W

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.8274 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.6%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,822,850 (GRCm39) I321V probably benign Het
Adcy7 A G 8: 89,051,391 (GRCm39) D837G probably damaging Het
Aldh1a1 T A 19: 20,617,440 (GRCm39) Y457* probably null Het
Alox5 T C 6: 116,397,323 (GRCm39) Y287C probably benign Het
Ano8 T C 8: 71,933,168 (GRCm39) probably benign Het
Ap3b1 A G 13: 94,630,189 (GRCm39) K815E unknown Het
Atp11a A T 8: 12,906,930 (GRCm39) probably benign Het
Atp6v0a1 A T 11: 100,939,341 (GRCm39) D702V possibly damaging Het
Cacna1b T A 2: 24,651,856 (GRCm39) N108Y probably damaging Het
Ccdc57 G C 11: 120,812,637 (GRCm39) A39G probably benign Het
Cdhr1 A T 14: 36,803,333 (GRCm39) V581D probably benign Het
Cfap20dc T G 14: 8,431,667 (GRCm38) Y655S probably damaging Het
Cyp2b23 A G 7: 26,372,304 (GRCm39) probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Ddit4l C T 3: 137,330,048 (GRCm39) probably benign Het
Dnah8 A T 17: 30,909,245 (GRCm39) I1024F probably benign Het
Dync2i1 T C 12: 116,221,026 (GRCm39) probably benign Het
Edc3 T A 9: 57,634,621 (GRCm39) F213I probably damaging Het
Edrf1 G A 7: 133,258,774 (GRCm39) D717N probably damaging Het
Efna5 G A 17: 62,958,068 (GRCm39) P63S probably damaging Het
Elapor2 T C 5: 9,484,681 (GRCm39) L486P probably damaging Het
Entpd3 A G 9: 120,387,547 (GRCm39) Y248C probably damaging Het
Flcn G A 11: 59,686,635 (GRCm39) Q373* probably null Het
Fry T C 5: 150,358,241 (GRCm39) V1908A probably damaging Het
Gabrg3 A T 7: 57,031,365 (GRCm39) Y58* probably null Het
Gabrp A T 11: 33,502,614 (GRCm39) Y417N probably damaging Het
Golga2 C A 2: 32,194,964 (GRCm39) probably null Het
Grip2 C A 6: 91,750,773 (GRCm39) probably null Het
Gsx2 A G 5: 75,237,729 (GRCm39) Y227C probably damaging Het
H2ac1 T C 13: 24,118,632 (GRCm39) V63A probably benign Het
Hsd3b1 C A 3: 98,760,089 (GRCm39) V301L probably damaging Het
Ifitm5 T C 7: 140,529,921 (GRCm39) probably benign Het
Inpp4a A T 1: 37,418,067 (GRCm39) D498V probably damaging Het
Itga1 A T 13: 115,128,995 (GRCm39) D554E probably benign Het
Itk G A 11: 46,280,285 (GRCm39) probably benign Het
Kdm3b T A 18: 34,928,716 (GRCm39) probably benign Het
Klhl6 A G 16: 19,766,984 (GRCm39) V470A probably benign Het
Lamb3 T A 1: 193,002,839 (GRCm39) W95R probably damaging Het
Lbhd2 T A 12: 111,376,676 (GRCm39) I41N probably damaging Het
Lrp4 A T 2: 91,321,015 (GRCm39) S1014C probably damaging Het
Ltbp2 C T 12: 84,832,743 (GRCm39) probably null Het
Map3k19 A G 1: 127,749,919 (GRCm39) I1144T possibly damaging Het
Mfsd10 T C 5: 34,792,507 (GRCm39) probably benign Het
Mocos A G 18: 24,799,333 (GRCm39) D189G probably benign Het
Mvb12a T A 8: 71,999,654 (GRCm39) F224L probably damaging Het
Myo15a A T 11: 60,405,723 (GRCm39) probably null Het
Nos2 A T 11: 78,828,428 (GRCm39) H249L probably damaging Het
Notum A G 11: 120,549,160 (GRCm39) M184T probably benign Het
Nvl C A 1: 180,962,395 (GRCm39) D192Y probably damaging Het
Or10j3 A G 1: 173,031,484 (GRCm39) K187R probably benign Het
Or4f57 T C 2: 111,790,839 (GRCm39) Y193C probably damaging Het
Or5ac22 A T 16: 59,135,434 (GRCm39) F112Y probably damaging Het
Or5m12 T A 2: 85,734,591 (GRCm39) N269I probably benign Het
Or8k27 C A 2: 86,276,303 (GRCm39) V8L probably benign Het
Osgin1 A G 8: 120,172,396 (GRCm39) I397V possibly damaging Het
Otulin A G 15: 27,616,510 (GRCm39) V123A probably damaging Het
P4ha1 A G 10: 59,184,081 (GRCm39) Y181C probably damaging Het
Pcdhgc5 A T 18: 37,954,403 (GRCm39) D559V probably damaging Het
Phf2 T C 13: 48,982,270 (GRCm39) N151S unknown Het
Plxnc1 C A 10: 94,648,991 (GRCm39) G1263C probably benign Het
Rad51ap1 A G 6: 126,901,160 (GRCm39) *338Q probably null Het
Raver1 A G 9: 20,986,955 (GRCm39) S676P probably benign Het
Rfx8 T C 1: 39,727,737 (GRCm39) E196G possibly damaging Het
Rreb1 A T 13: 38,100,131 (GRCm39) K187* probably null Het
Rxfp1 T C 3: 79,574,961 (GRCm39) T217A probably benign Het
Rxra T C 2: 27,642,442 (GRCm39) L305P probably damaging Het
Sardh T C 2: 27,117,078 (GRCm39) probably benign Het
Skor2 A T 18: 76,964,293 (GRCm39) E952D probably damaging Het
Slc22a29 A T 19: 8,147,334 (GRCm39) S343T probably benign Het
Sorbs2 T C 8: 46,238,374 (GRCm39) probably benign Het
Supt7l C T 5: 31,673,262 (GRCm39) V329I probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 T C 6: 7,559,165 (GRCm39) probably benign Het
Tcn2 A T 11: 3,872,044 (GRCm39) V361D probably damaging Het
Tm2d3 G A 7: 65,347,582 (GRCm39) A170T possibly damaging Het
Tnks G A 8: 35,307,124 (GRCm39) R1142* probably null Het
Ttll7 C A 3: 146,649,915 (GRCm39) Y648* probably null Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Upf2 G A 2: 6,032,015 (GRCm39) probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Washc5 A G 15: 59,210,809 (GRCm39) I1013T probably benign Het
Zfp704 C A 3: 9,630,217 (GRCm39) R48L probably damaging Het
Other mutations in Hif3a
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL03342:Hif3a APN 7 16,775,047 (GRCm39) missense possibly damaging 0.92
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
Predicted Primers PCR Primer
(F):5'- CTGAGCTGAGAATACCCAAGAAGCC -3'
(R):5'- GTGTCCGAGAAACACCTCCTTCTG -3'

Sequencing Primer
(F):5'- CAAGAAGCCTCCGACTGG -3'
(R):5'- agcaaacacctgaacccc -3'
Posted On 2013-05-09