Incidental Mutation 'IGL02230:Hif1a'
ID 285665
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 # IGL02230
Quality Score
Status
Chromosome 12
Chromosomal Location 73948149-73994304 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 73979224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 249 (D249E)
Ref Sequence ENSEMBL: ENSMUSP00000106091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021530] [ENSMUST00000110461] [ENSMUST00000110464]
AlphaFold Q61221
Predicted Effect probably damaging
Transcript: ENSMUST00000021530
AA Change: D249E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021530
Gene: ENSMUSG00000021109
AA Change: D249E

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 benign
Transcript: ENSMUST00000110461
AA Change: D237E

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106088
Gene: ENSMUSG00000021109
AA Change: D237E

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 damaging
Transcript: ENSMUST00000110464
AA Change: D249E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106091
Gene: ENSMUSG00000021109
AA Change: D249E

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,218,604 (GRCm39) T727S probably benign Het
Cyp4a12b A T 4: 115,291,193 (GRCm39) I374F probably damaging Het
Ecel1 T C 1: 87,079,916 (GRCm39) N399S probably damaging Het
Fpr-rs3 T C 17: 20,844,190 (GRCm39) E317G probably damaging Het
Gm10030 T A 9: 110,835,458 (GRCm39) noncoding transcript Het
Gm4884 A T 7: 40,692,829 (GRCm39) Q266L probably damaging Het
Gpr45 C A 1: 43,071,816 (GRCm39) A153E probably damaging Het
Hc A G 2: 34,903,682 (GRCm39) F991L probably benign Het
Hsd17b12 A G 2: 93,875,743 (GRCm39) L194P possibly damaging Het
Hspg2 T C 4: 137,245,956 (GRCm39) S947P probably damaging Het
Kng1 G T 16: 22,879,244 (GRCm39) probably null Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc4 T A 6: 28,830,879 (GRCm39) K245N probably damaging Het
Mdga2 G A 12: 66,702,197 (GRCm39) R335* probably null Het
Naa16 A T 14: 79,614,801 (GRCm39) probably benign Het
Ncbp1 C A 4: 46,165,272 (GRCm39) N528K probably benign Het
Or10a2 A G 7: 106,673,700 (GRCm39) I222V probably damaging Het
Or7a41 T A 10: 78,870,876 (GRCm39) M82K probably damaging Het
Pipox A G 11: 77,772,032 (GRCm39) L364P probably damaging Het
R3hdm4 C A 10: 79,747,925 (GRCm39) A206S probably damaging Het
Rasgrf2 A G 13: 92,136,145 (GRCm39) I589T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 (GRCm39) E24G probably damaging Het
Sec24a T C 11: 51,599,861 (GRCm39) I815V possibly damaging Het
Serpina16 A G 12: 103,641,561 (GRCm39) Y55H probably damaging Het
Sirt2 C T 7: 28,478,371 (GRCm39) R83C probably damaging Het
Sntg1 A T 1: 8,752,195 (GRCm39) probably null Het
Stmn1 A G 4: 134,200,224 (GRCm39) E99G probably damaging Het
Tas2r103 T C 6: 133,014,019 (GRCm39) I16V possibly damaging Het
Vit A G 17: 78,927,056 (GRCm39) K334E probably damaging Het
Washc4 T C 10: 83,417,233 (GRCm39) I876T probably benign Het
Wrn A T 8: 33,807,591 (GRCm39) V289D probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null 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
IGL02561:Hif1a APN 12 73,988,980 (GRCm39) missense possibly damaging 0.52
IGL02698:Hif1a APN 12 73,977,545 (GRCm39) critical splice donor site probably null
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