Incidental Mutation 'IGL02698:Hif1a'
ID 304050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hif1a
Ensembl Gene ENSMUSG00000021109
Gene Name hypoxia inducible factor 1, alpha subunit
Synonyms bHLHe78, MOP1, HIF-1alpha, HIF1alpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02698
Quality Score
Status
Chromosome 12
Chromosomal Location 73948149-73994304 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 73977545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021530] [ENSMUST00000110461] [ENSMUST00000110464]
AlphaFold Q61221
Predicted Effect probably null
Transcript: ENSMUST00000021530
SMART Domains Protein: ENSMUSP00000021530
Gene: ENSMUSG00000021109

DomainStartEndE-ValueType
HLH 23 78 1.29e-8 SMART
PAS 87 153 1.05e-9 SMART
PAS 230 296 2.08e-8 SMART
PAC 302 345 6.85e-9 SMART
low complexity region 416 427 N/A INTRINSIC
Pfam:HIF-1 564 594 5.4e-18 PFAM
low complexity region 621 645 N/A INTRINSIC
Pfam:HIF-1a_CTAD 799 835 3.9e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110461
SMART Domains Protein: ENSMUSP00000106088
Gene: ENSMUSG00000021109

DomainStartEndE-ValueType
HLH 11 66 1.29e-8 SMART
PAS 75 141 1.05e-9 SMART
PAS 218 284 2.08e-8 SMART
PAC 290 333 6.85e-9 SMART
low complexity region 404 415 N/A INTRINSIC
Pfam:HIF-1 536 569 6e-19 PFAM
low complexity region 595 619 N/A INTRINSIC
Pfam:HIF-1a_CTAD 771 810 1.2e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110464
SMART Domains Protein: ENSMUSP00000106091
Gene: ENSMUSG00000021109

DomainStartEndE-ValueType
HLH 23 78 1.29e-8 SMART
PAS 87 153 1.05e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221427
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants die during embryonic development with severe cardiovascular malformations, neural tube defects, cephalic defects, reduced somite number and increased hypoxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp21 T A 9: 112,014,812 (GRCm39) probably benign Het
Car8 A T 4: 8,185,598 (GRCm39) I186N probably benign Het
Ccdc174 G A 6: 91,867,834 (GRCm39) S183N probably benign Het
Ccdc66 T A 14: 27,212,749 (GRCm39) K525* probably null Het
Cebpz A G 17: 79,243,003 (GRCm39) V217A probably benign Het
Cfap36 C A 11: 29,197,014 (GRCm39) probably null Het
Cpne4 T C 9: 104,909,984 (GRCm39) V527A probably damaging Het
Crh T G 3: 19,748,354 (GRCm39) D96A possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dcp1a A T 14: 30,227,499 (GRCm39) probably benign Het
Ddhd1 A T 14: 45,842,663 (GRCm39) probably benign Het
Dis3l2 C T 1: 86,976,551 (GRCm39) probably benign Het
Dop1a T C 9: 86,406,412 (GRCm39) probably benign Het
Etv3 A G 3: 87,443,885 (GRCm39) T490A possibly damaging Het
Fastkd2 A G 1: 63,787,158 (GRCm39) T531A probably benign Het
Fat1 C T 8: 45,476,201 (GRCm39) A1749V probably benign Het
Fgfr1 T A 8: 26,063,624 (GRCm39) L761* probably null Het
Gcc2 A G 10: 58,107,112 (GRCm39) K683E possibly damaging Het
Gm5117 C T 8: 32,229,767 (GRCm39) noncoding transcript Het
Inha A G 1: 75,486,527 (GRCm39) E274G probably damaging Het
Itih2 G T 2: 10,135,312 (GRCm39) P26H probably damaging Het
Kif23 G A 9: 61,832,283 (GRCm39) T620I possibly damaging Het
Klhl30 T C 1: 91,281,429 (GRCm39) F10S probably damaging Het
Kmt2b T C 7: 30,278,118 (GRCm39) probably benign Het
Lmf2 A C 15: 89,238,357 (GRCm39) L174R probably damaging Het
Med13l T C 5: 118,900,894 (GRCm39) L2216P probably damaging Het
Mmp1b T A 9: 7,384,877 (GRCm39) L257F probably damaging Het
Net1 A G 13: 3,937,569 (GRCm39) probably null Het
Nfasc A G 1: 132,562,475 (GRCm39) V100A probably benign Het
Nr4a2 A G 2: 56,998,172 (GRCm39) F535S probably damaging Het
Ntn4 G T 10: 93,480,521 (GRCm39) A45S probably benign Het
Or2y1c T A 11: 49,361,690 (GRCm39) F237L probably benign Het
Or4a27 T A 2: 88,559,815 (GRCm39) I43F probably damaging Het
Or52a20 T C 7: 103,366,485 (GRCm39) V228A probably damaging Het
Or5w17 T A 2: 87,584,188 (GRCm39) K50* probably null Het
Or8c9 A G 9: 38,241,506 (GRCm39) T208A probably benign Het
Pappa A T 4: 65,099,257 (GRCm39) E592V probably damaging Het
Pate10 T C 9: 35,652,416 (GRCm39) probably benign Het
Pi4ka A T 16: 17,109,032 (GRCm39) I1630N probably damaging Het
Ptprb A G 10: 116,199,185 (GRCm39) D1997G probably benign Het
Rc3h2 A T 2: 37,295,312 (GRCm39) S235T probably damaging Het
S1pr1 T A 3: 115,505,746 (GRCm39) K283* probably null Het
Scn5a T A 9: 119,350,163 (GRCm39) T904S probably damaging Het
Sema6d T C 2: 124,495,643 (GRCm39) L30P possibly damaging Het
Slc26a7 A C 4: 14,593,867 (GRCm39) S83A possibly damaging Het
Slco1a6 C A 6: 142,048,737 (GRCm39) G348* probably null Het
Srgap3 C T 6: 112,723,889 (GRCm39) V524I probably damaging Het
Stxbp3-ps A T 19: 9,535,688 (GRCm39) noncoding transcript Het
Sv2b C T 7: 74,790,726 (GRCm39) probably null Het
Sympk T C 7: 18,779,559 (GRCm39) I663T probably benign Het
Ttn C A 2: 76,775,115 (GRCm39) V1976L probably damaging Het
Uqcrc1 T C 9: 108,777,011 (GRCm39) probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging Het
Other mutations in Hif1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Hif1a APN 12 73,988,784 (GRCm39) missense probably damaging 1.00
IGL01396:Hif1a APN 12 73,987,307 (GRCm39) missense probably benign 0.00
IGL02230:Hif1a APN 12 73,979,224 (GRCm39) missense probably damaging 1.00
IGL02561:Hif1a APN 12 73,988,980 (GRCm39) missense possibly damaging 0.52
IGL03027:Hif1a APN 12 73,987,251 (GRCm39) missense probably benign 0.03
lightweight UTSW 12 73,988,574 (GRCm39) missense probably damaging 1.00
R0597:Hif1a UTSW 12 73,989,049 (GRCm39) missense probably benign 0.00
R0614:Hif1a UTSW 12 73,992,405 (GRCm39) missense probably damaging 1.00
R0678:Hif1a UTSW 12 73,990,965 (GRCm39) splice site probably null
R0967:Hif1a UTSW 12 73,984,444 (GRCm39) missense possibly damaging 0.91
R1351:Hif1a UTSW 12 73,987,235 (GRCm39) missense probably benign 0.00
R1387:Hif1a UTSW 12 73,989,066 (GRCm39) missense possibly damaging 0.95
R1858:Hif1a UTSW 12 73,990,929 (GRCm39) missense probably benign
R2105:Hif1a UTSW 12 73,984,519 (GRCm39) missense probably damaging 1.00
R2194:Hif1a UTSW 12 73,977,521 (GRCm39) missense probably damaging 0.98
R4825:Hif1a UTSW 12 73,979,175 (GRCm39) missense probably damaging 1.00
R4924:Hif1a UTSW 12 73,986,331 (GRCm39) missense probably damaging 1.00
R5386:Hif1a UTSW 12 73,990,867 (GRCm39) missense probably benign 0.02
R5594:Hif1a UTSW 12 73,984,566 (GRCm39) nonsense probably null
R5722:Hif1a UTSW 12 73,988,533 (GRCm39) missense probably benign 0.00
R5818:Hif1a UTSW 12 73,986,338 (GRCm39) missense possibly damaging 0.64
R5831:Hif1a UTSW 12 73,988,918 (GRCm39) missense probably benign
R6026:Hif1a UTSW 12 73,979,055 (GRCm39) missense probably damaging 1.00
R6059:Hif1a UTSW 12 73,988,574 (GRCm39) missense probably damaging 1.00
R6084:Hif1a UTSW 12 73,988,616 (GRCm39) missense probably damaging 0.99
R6818:Hif1a UTSW 12 73,992,337 (GRCm39) nonsense probably null
R6878:Hif1a UTSW 12 73,975,055 (GRCm39) missense possibly damaging 0.49
R8028:Hif1a UTSW 12 73,988,801 (GRCm39) missense probably benign 0.27
R8286:Hif1a UTSW 12 73,992,022 (GRCm39) intron probably benign
R8322:Hif1a UTSW 12 73,986,373 (GRCm39) missense probably benign
R8414:Hif1a UTSW 12 73,984,428 (GRCm39) missense probably benign 0.00
R8729:Hif1a UTSW 12 73,990,902 (GRCm39) missense probably damaging 1.00
R9030:Hif1a UTSW 12 73,983,010 (GRCm39) missense probably damaging 1.00
R9087:Hif1a UTSW 12 73,989,099 (GRCm39) missense probably benign 0.01
R9093:Hif1a UTSW 12 73,979,111 (GRCm39) missense probably benign 0.12
R9300:Hif1a UTSW 12 73,987,302 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16