Incidental Mutation 'IGL02230:Hif1a'
ID285665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hif1a
Ensembl Gene ENSMUSG00000021109
Gene Namehypoxia inducible factor 1, alpha subunit
SynonymsbHLHe78, HIF1alpha, MOP1, HIF-1alpha
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02230
Quality Score
Status
Chromosome12
Chromosomal Location73901375-73947530 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 73932450 bp
ZygosityHeterozygous
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]
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: 80,171,830 T727S probably benign Het
Cyp4a12b A T 4: 115,433,996 I374F probably damaging Het
Ecel1 T C 1: 87,152,194 N399S probably damaging Het
Fpr-rs3 T C 17: 20,623,928 E317G probably damaging Het
Gm10030 T A 9: 111,006,390 noncoding transcript Het
Gm4884 A T 7: 41,043,405 Q266L probably damaging Het
Gpr45 C A 1: 43,032,656 A153E probably damaging Het
Hc A G 2: 35,013,670 F991L probably benign Het
Hsd17b12 A G 2: 94,045,398 L194P possibly damaging Het
Hspg2 T C 4: 137,518,645 S947P probably damaging Het
Kng1 G T 16: 23,060,494 probably null Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc4 T A 6: 28,830,880 K245N probably damaging Het
Mdga2 G A 12: 66,655,423 R335* probably null Het
Naa16 A T 14: 79,377,361 probably benign Het
Ncbp1 C A 4: 46,165,272 N528K probably benign Het
Olfr57 T A 10: 79,035,042 M82K probably damaging Het
Olfr714 A G 7: 107,074,493 I222V probably damaging Het
Pipox A G 11: 77,881,206 L364P probably damaging Het
R3hdm4 C A 10: 79,912,091 A206S probably damaging Het
Rasgrf2 A G 13: 91,988,026 I589T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 E24G probably damaging Het
Sec24a T C 11: 51,709,034 I815V possibly damaging Het
Serpina16 A G 12: 103,675,302 Y55H probably damaging Het
Sirt2 C T 7: 28,778,946 R83C probably damaging Het
Sntg1 A T 1: 8,681,971 probably null Het
Stmn1 A G 4: 134,472,913 E99G probably damaging Het
Tas2r103 T C 6: 133,037,056 I16V possibly damaging Het
Vit A G 17: 78,619,627 K334E probably damaging Het
Washc4 T C 10: 83,581,369 I876T probably benign Het
Wrn A T 8: 33,317,563 V289D probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Hif1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Hif1a APN 12 73942010 missense probably damaging 1.00
IGL01396:Hif1a APN 12 73940533 missense probably benign 0.00
IGL02561:Hif1a APN 12 73942206 missense possibly damaging 0.52
IGL02698:Hif1a APN 12 73930771 critical splice donor site probably null
IGL03027:Hif1a APN 12 73940477 missense probably benign 0.03
lightweight UTSW 12 73941800 missense probably damaging 1.00
R0597:Hif1a UTSW 12 73942275 missense probably benign 0.00
R0614:Hif1a UTSW 12 73945631 missense probably damaging 1.00
R0678:Hif1a UTSW 12 73944191 splice site probably null
R0967:Hif1a UTSW 12 73937670 missense possibly damaging 0.91
R1351:Hif1a UTSW 12 73940461 missense probably benign 0.00
R1387:Hif1a UTSW 12 73942292 missense possibly damaging 0.95
R1858:Hif1a UTSW 12 73944155 missense probably benign
R2105:Hif1a UTSW 12 73937745 missense probably damaging 1.00
R2194:Hif1a UTSW 12 73930747 missense probably damaging 0.98
R4825:Hif1a UTSW 12 73932401 missense probably damaging 1.00
R4924:Hif1a UTSW 12 73939557 missense probably damaging 1.00
R5386:Hif1a UTSW 12 73944093 missense probably benign 0.02
R5594:Hif1a UTSW 12 73937792 nonsense probably null
R5722:Hif1a UTSW 12 73941759 missense probably benign 0.00
R5818:Hif1a UTSW 12 73939564 missense possibly damaging 0.64
R5831:Hif1a UTSW 12 73942144 missense probably benign
R6026:Hif1a UTSW 12 73932281 missense probably damaging 1.00
R6059:Hif1a UTSW 12 73941800 missense probably damaging 1.00
R6084:Hif1a UTSW 12 73941842 missense probably damaging 0.99
R6818:Hif1a UTSW 12 73945563 nonsense probably null
R6878:Hif1a UTSW 12 73928281 missense possibly damaging 0.49
R8028:Hif1a UTSW 12 73942027 missense probably benign 0.27
R8286:Hif1a UTSW 12 73945248 intron probably benign
R8322:Hif1a UTSW 12 73939599 missense probably benign
R8414:Hif1a UTSW 12 73937654 missense probably benign 0.00
R8729:Hif1a UTSW 12 73944128 missense probably damaging 1.00
Posted On2015-04-16