Incidental Mutation 'IGL02496:Hif3a'
ID 295873
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: 0.198) question?
Stock # IGL02496
Quality Score
Status
Chromosome 7
Chromosomal Location 16765432-16796352 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 16773603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037762] [ENSMUST00000108492]
AlphaFold Q0VBL6
Predicted Effect probably benign
Transcript: ENSMUST00000037762
SMART Domains Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328

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 benign
Transcript: ENSMUST00000108492
SMART Domains Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328

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
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo10 A T 4: 45,043,883 (GRCm39) W647R probably damaging Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hsd17b4 T C 18: 50,288,220 (GRCm39) Y217H probably damaging Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Mmp20 A G 9: 7,654,042 (GRCm39) R321G probably damaging Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,507 (GRCm39) D476G probably damaging Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spats2 T A 15: 99,071,329 (GRCm39) I51N probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Tgfbr2 T C 9: 115,919,486 (GRCm39) E580G probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Zfp532 T C 18: 65,757,113 (GRCm39) S349P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging Het
Other mutations in Hif3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Hif3a APN 7 16,785,841 (GRCm39) splice site probably null
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
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 2015-04-16