Incidental Mutation 'R5831:Hif1a'
ID 449324
Institutional Source Beutler Lab
Gene Symbol Hif1a
Ensembl Gene ENSMUSG00000021109
Gene Name hypoxia inducible factor 1, alpha subunit
Synonyms bHLHe78, MOP1, HIF-1alpha, HIF1alpha
MMRRC Submission 043220-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5831 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 73948149-73994304 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73988918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 602 (T602S)
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: T628S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021530
Gene: ENSMUSG00000021109
AA Change: T628S

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: T602S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106088
Gene: ENSMUSG00000021109
AA Change: T602S

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.6%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,517,777 (GRCm39) K4460* probably null Het
Adam21 A G 12: 81,605,875 (GRCm39) V629A probably benign Het
Adamts5 C T 16: 85,665,006 (GRCm39) V653I probably damaging Het
Adarb2 G A 13: 8,609,169 (GRCm39) A44T probably benign Het
Ank2 T C 3: 127,132,808 (GRCm39) probably benign Het
Arhgap21 T C 2: 20,868,024 (GRCm39) Y833C probably damaging Het
Brwd1 A G 16: 95,820,636 (GRCm39) S1297P probably damaging Het
Cdc25b G T 2: 131,029,301 (GRCm39) probably null Het
Ciart A T 3: 95,786,214 (GRCm39) V287D probably damaging Het
Csf2ra A G 19: 61,213,650 (GRCm39) F353S probably damaging Het
D630045J12Rik C T 6: 38,119,592 (GRCm39) E1717K possibly damaging Het
Dhcr24 A G 4: 106,421,611 (GRCm39) K82R probably benign Het
Dnah9 T A 11: 65,998,947 (GRCm39) T1034S probably benign Het
Dock6 T C 9: 21,714,332 (GRCm39) E1837G probably damaging Het
Eeig2 A T 3: 108,900,019 (GRCm39) S110T possibly damaging Het
Flg2 G A 3: 93,107,541 (GRCm39) V9I probably damaging Het
Hip1 T C 5: 135,440,117 (GRCm39) E1015G probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Irgq C A 7: 24,232,763 (GRCm39) F201L probably damaging Het
Isoc2b C A 7: 4,854,023 (GRCm39) L116F probably null Het
Loxl3 A T 6: 83,025,999 (GRCm39) T416S probably benign Het
Map3k13 A G 16: 21,746,798 (GRCm39) *960W probably null Het
Morn1 A G 4: 155,185,733 (GRCm39) H183R probably benign Het
Mrc1 A T 2: 14,313,523 (GRCm39) N918I probably damaging Het
Nfxl1 A G 5: 72,679,540 (GRCm39) V763A probably benign Het
Or11g1 A G 14: 50,651,439 (GRCm39) probably null Het
Or4c100 G A 2: 88,356,824 (GRCm39) W299* probably null Het
Papola A G 12: 105,789,859 (GRCm39) K482E probably benign Het
Pck1 C T 2: 172,998,792 (GRCm39) T350I probably damaging Het
Peli2 G A 14: 48,405,727 (GRCm39) A51T probably damaging Het
Preb T C 5: 31,116,208 (GRCm39) H133R probably benign Het
Rpl36-ps4 T C 17: 88,228,685 (GRCm39) V73A probably benign Het
Scaf11 G A 15: 96,314,962 (GRCm39) P1240L probably benign Het
Selenom G T 11: 3,466,882 (GRCm39) E81* probably null Het
Serpinb1c T C 13: 33,081,081 (GRCm39) M1V probably null Het
Tanc1 T C 2: 59,615,685 (GRCm39) S231P possibly damaging Het
Trappc10 C T 10: 78,045,260 (GRCm39) R476Q probably damaging Het
Twf2 T A 9: 106,091,386 (GRCm39) D200E probably benign Het
Vmn1r17 T C 6: 57,337,999 (GRCm39) Y122C probably benign Het
Vmn2r71 G A 7: 85,272,922 (GRCm39) D579N probably benign Het
Vrtn A T 12: 84,695,349 (GRCm39) E33V 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
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
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
Predicted Primers PCR Primer
(F):5'- CACTGATTTAGATTTGGAGATGCTG -3'
(R):5'- ACAGGTTAAGGCTCCTTGGATG -3'

Sequencing Primer
(F):5'- GGAGATGCTGGCTCCCTATATC -3'
(R):5'- AGCTTTGTCTGTCTGTTCTATGAC -3'
Posted On 2016-12-20