Incidental Mutation 'IGL01396:Hif1a'
ID 79447
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 # IGL01396
Quality Score
Status
Chromosome 12
Chromosomal Location 73948149-73994304 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73987307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 467 (S467T)
Ref Sequence ENSEMBL: ENSMUSP00000106088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021530] [ENSMUST00000110461]
AlphaFold Q61221
Predicted Effect probably benign
Transcript: ENSMUST00000021530
AA Change: S479T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021530
Gene: ENSMUSG00000021109
AA Change: S479T

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: S467T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106088
Gene: ENSMUSG00000021109
AA Change: S467T

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 noncoding transcript
Transcript: ENSMUST00000125308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221427
Predicted Effect probably benign
Transcript: ENSMUST00000221833
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,649 (GRCm39) Y469N probably benign Het
Actl11 T C 9: 107,805,964 (GRCm39) S96P possibly damaging Het
Ankrd13b T A 11: 77,363,198 (GRCm39) probably null Het
Apobec4 T A 1: 152,632,017 (GRCm39) I15K probably damaging Het
Arhgef28 G T 13: 98,090,401 (GRCm39) D1039E probably damaging Het
Atp1a1 C T 3: 101,498,769 (GRCm39) G175R probably damaging Het
AU040320 T A 4: 126,763,171 (GRCm39) probably benign Het
Bcl9l G A 9: 44,418,121 (GRCm39) R653H probably damaging Het
Ccdc141 T A 2: 76,958,669 (GRCm39) I144L possibly damaging Het
Cdh20 C T 1: 104,875,154 (GRCm39) T312I possibly damaging Het
Cdh23 C T 10: 60,220,848 (GRCm39) V1297I possibly damaging Het
Cfap57 T C 4: 118,467,792 (GRCm39) Y315C probably damaging Het
Chd8 A G 14: 52,442,044 (GRCm39) probably benign Het
Cog5 A G 12: 31,944,095 (GRCm39) D660G probably benign Het
Cps1 T C 1: 67,196,945 (GRCm39) I332T probably damaging Het
Csgalnact2 T C 6: 118,103,288 (GRCm39) T225A probably damaging Het
Dchs1 A G 7: 105,421,490 (GRCm39) L310P probably damaging Het
Dgki T C 6: 36,977,025 (GRCm39) N695S probably damaging Het
Gas7 T A 11: 67,543,740 (GRCm39) probably null Het
Gm21286 T C 4: 60,794,323 (GRCm39) noncoding transcript Het
Gm4799 C T 10: 82,790,518 (GRCm39) noncoding transcript Het
Hdac4 T C 1: 91,887,196 (GRCm39) probably benign Het
Ier5 A G 1: 154,974,296 (GRCm39) V294A probably damaging Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Itga9 T C 9: 118,436,191 (GRCm39) probably benign Het
Lbx1 G T 19: 45,222,670 (GRCm39) Q118K probably benign Het
Lta A T 17: 35,423,061 (GRCm39) probably null Het
Matr3 A G 18: 35,721,442 (GRCm39) Y471C probably damaging Het
Nrg2 A T 18: 36,178,905 (GRCm39) probably benign Het
Or4c103 C T 2: 88,513,575 (GRCm39) C167Y probably damaging Het
Or4k51 T C 2: 111,584,848 (GRCm39) F85L probably benign Het
Or4k51 T A 2: 111,584,948 (GRCm39) M118K probably damaging Het
Or5l13 G T 2: 87,780,207 (GRCm39) F123L probably damaging Het
Patl1 A G 19: 11,901,247 (GRCm39) K299R probably damaging Het
Pdgfrb A G 18: 61,205,736 (GRCm39) E574G probably damaging Het
Phf3 G A 1: 30,843,386 (GRCm39) Q1858* probably null Het
Prkca T C 11: 107,905,148 (GRCm39) K197E possibly damaging Het
Psmc6 C A 14: 45,581,124 (GRCm39) Q307K probably benign Het
Rasa1 T C 13: 85,406,561 (GRCm39) I181V probably benign Het
Scel A G 14: 103,845,530 (GRCm39) probably benign Het
Scn5a A T 9: 119,363,770 (GRCm39) S457T probably damaging Het
Sesn3 A G 9: 14,232,374 (GRCm39) T216A probably benign Het
Slc25a21 A G 12: 57,205,974 (GRCm39) V19A probably benign Het
Slc34a1 A G 13: 55,550,546 (GRCm39) T81A probably damaging Het
Slc35a5 A G 16: 44,971,866 (GRCm39) Y117H probably damaging Het
Sptbn4 A G 7: 27,114,196 (GRCm39) V569A probably benign Het
Sqle A G 15: 59,195,723 (GRCm39) Y333C probably damaging Het
Svep1 T C 4: 58,068,552 (GRCm39) E3078G possibly damaging Het
Tacc2 T A 7: 130,360,919 (GRCm39) I2737N probably damaging Het
Tet3 A T 6: 83,346,620 (GRCm39) Y1272* probably null Het
Tnr G T 1: 159,724,594 (GRCm39) R1095L possibly damaging Het
Vmn1r184 T C 7: 25,966,862 (GRCm39) S203P probably damaging Het
Vmn2r94 A G 17: 18,477,301 (GRCm39) L370P probably damaging Het
Xrcc5 A G 1: 72,393,404 (GRCm39) H559R probably benign Het
Other mutations in Hif1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Hif1a APN 12 73,988,784 (GRCm39) missense probably damaging 1.00
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
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 2013-11-05