Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02230:Hif1a'

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, HIF1alpha, MOP1, HIF-1alpha

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

73901375-73947530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 73932450 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16