Incidental Mutation 'R3693:Hif3a'
ID 268857
Institutional Source Beutler Lab
Gene Symbol Hif3a
Ensembl Gene ENSMUSG00000004328
Gene Name hypoxia inducible factor 3, alpha subunit
Synonyms Nepas, MOP7, bHLHe17
MMRRC Submission 040688-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R3693 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16765432-16796352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16774999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 533 (E533G)
Ref Sequence ENSEMBL: ENSMUSP00000104132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037762] [ENSMUST00000108492]
AlphaFold Q0VBL6
Predicted Effect probably damaging
Transcript: ENSMUST00000037762
AA Change: E531G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: E531G

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 damaging
Transcript: ENSMUST00000108492
AA Change: E533G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: E533G

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 0.0636 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik A T X: 111,466,012 (GRCm39) L187F probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Cabp2 A G 19: 4,133,593 (GRCm39) T12A probably benign Het
Ccdc158 T C 5: 92,757,904 (GRCm39) E1056G probably damaging Het
Cdhr2 A G 13: 54,874,229 (GRCm39) Y767C probably damaging Het
Ces2e A G 8: 105,655,443 (GRCm39) D122G probably damaging Het
Cherp TTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTG 8: 73,221,755 (GRCm39) probably benign Het
Chsy3 A T 18: 59,309,080 (GRCm39) Q111L possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyp11b2 C T 15: 74,727,857 (GRCm39) R75Q probably benign Het
Dnaja2 T C 8: 86,273,249 (GRCm39) K223E probably damaging Het
Dtx3 T C 10: 127,027,293 (GRCm39) I294V probably benign Het
Eps15l1 A G 8: 73,152,904 (GRCm39) probably benign Het
Exd2 A G 12: 80,527,467 (GRCm39) Y220C probably damaging Het
Eya1 A G 1: 14,299,725 (GRCm39) Y343H probably damaging Het
Kalrn T A 16: 34,177,685 (GRCm39) Y178F probably damaging Het
Mageb4 G T X: 85,296,000 (GRCm39) R10S probably damaging Het
Muc6 A G 7: 141,234,946 (GRCm39) probably benign Het
Myh11 C A 16: 14,035,813 (GRCm39) E1038D probably benign Het
Nfxl1 T C 5: 72,697,954 (GRCm39) Y297C probably damaging Het
Nop14 T C 5: 34,811,782 (GRCm39) K202E probably damaging Het
Or5b112 T C 19: 13,319,893 (GRCm39) I257T possibly damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Pcdha1 A T 18: 37,065,361 (GRCm39) K675I possibly damaging Het
Pigw A G 11: 84,769,209 (GRCm39) I40T probably benign Het
Pip5k1a A T 3: 94,985,498 (GRCm39) probably benign Het
Ptprh G T 7: 4,557,234 (GRCm39) Q687K probably damaging Het
Rbm4 A G 19: 4,837,411 (GRCm39) Y358H probably damaging Het
Rft1 T A 14: 30,412,408 (GRCm39) C490S probably damaging Het
Rims2 A T 15: 39,341,971 (GRCm39) T887S probably benign Het
Ripk2 A T 4: 16,127,695 (GRCm39) L349Q probably benign Het
Strn T C 17: 78,964,421 (GRCm39) N515D probably damaging Het
Stxbp5l A T 16: 37,061,708 (GRCm39) Y367* probably null Het
Tas2r143 G A 6: 42,377,910 (GRCm39) V247I probably benign Het
Togaram1 A T 12: 65,030,283 (GRCm39) Y1029F probably benign Het
Ugt1a6b A G 1: 88,035,516 (GRCm39) T285A probably benign 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
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
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'- CTGACGCATGAGAGGATCAG -3'
(R):5'- TGAGACTGTCAGAGTTGCCATG -3'

Sequencing Primer
(F):5'- GGATCAGGGACATTCTATATGCC -3'
(R):5'- AGAGTTGCCATGCCCTCTTGG -3'
Posted On 2015-02-19