Mutagenetix > Incidental Mutation

Incidental Mutation 'R1529:Hif3a'

166459

Institutional Source

Beutler Lab

Gene Symbol

Hif3a

Ensembl Gene

ENSMUSG00000004328

Gene Name

hypoxia inducible factor 3, alpha subunit

Synonyms

Nepas, MOP7, bHLHe17

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R1529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16765432-16796352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 16776564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 459 (S459A)

Ref Sequence

ENSEMBL: ENSMUSP00000048248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037762] [ENSMUST00000108492]

AlphaFold

Q0VBL6

Predicted Effect

probably benign
Transcript: ENSMUST00000037762
AA Change: S459A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: S459A

Domain	Start	End	E-Value	Type
HLH	18	73	1.57e-7	SMART
PAS	82	148	9.83e-10	SMART
PAS	225	293	2.72e-3	SMART
PAC	299	342	2.18e-2	SMART
low complexity region	421	437	N/A	INTRINSIC
Pfam:HIF-1	472	505	1.8e-18	PFAM
low complexity region	508	520	N/A	INTRINSIC
low complexity region	525	536	N/A	INTRINSIC
low complexity region	595	607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108492
AA Change: S461A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: S461A

Domain	Start	End	E-Value	Type
HLH	20	75	1.57e-7	SMART
PAS	84	150	9.83e-10	SMART
PAS	227	295	2.72e-3	SMART
PAC	301	344	2.18e-2	SMART
low complexity region	423	439	N/A	INTRINSIC
Pfam:HIF-1	475	506	5.7e-18	PFAM
low complexity region	510	522	N/A	INTRINSIC
low complexity region	527	538	N/A	INTRINSIC
low complexity region	597	609	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired lung remodeling resulting in hypertrophy of the heart right ventricle and pulmonary hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,768,533 (GRCm39)	I21T	probably benign	Het
Adam11	T	C	11: 102,665,939 (GRCm39)		probably null	Het
Amd1	A	T	10: 40,166,501 (GRCm39)	M194K	probably benign	Het
Ap1b1	T	G	11: 4,989,547 (GRCm39)	F793C	probably damaging	Het
Arfgef3	G	A	10: 18,488,970 (GRCm39)	R1292*	probably null	Het
Arhgef5	C	A	6: 43,256,449 (GRCm39)	H1186N	probably damaging	Het
Atad1	A	G	19: 32,684,321 (GRCm39)	F26L	probably benign	Het
Atg2b	C	T	12: 105,627,392 (GRCm39)	V532I	probably benign	Het
Atp2b4	A	G	1: 133,645,726 (GRCm39)	F943L	probably damaging	Het
Atp7b	G	A	8: 22,518,740 (GRCm39)	L21F	possibly damaging	Het
Ccdc9b	T	A	2: 118,592,241 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cimip3	G	A	17: 47,724,815 (GRCm39)	S102L	probably benign	Het
Ckmt2	A	T	13: 92,009,320 (GRCm39)	D202E	probably benign	Het
Crim1	A	C	17: 78,675,383 (GRCm39)	K864T	probably benign	Het
Ctnnd2	A	G	15: 30,887,267 (GRCm39)	R765G	possibly damaging	Het
Ddx10	T	A	9: 53,028,499 (GRCm39)	R802*	probably null	Het
Dnah7b	T	A	1: 46,216,441 (GRCm39)	F1152L	probably damaging	Het
Dsg1c	T	C	18: 20,415,080 (GRCm39)	L659P	probably damaging	Het
Dzank1	A	G	2: 144,324,108 (GRCm39)	F577L	probably benign	Het
Eci3	T	C	13: 35,140,903 (GRCm39)	D93G	probably benign	Het
Ecpas	T	C	4: 58,832,701 (GRCm39)		probably null	Het
Ep400	C	A	5: 110,887,311 (GRCm39)	V591L	probably benign	Het
Fgd3	T	C	13: 49,420,170 (GRCm39)	N569S	probably benign	Het
Ghsr	T	A	3: 27,426,631 (GRCm39)	V229E	probably damaging	Het
Gna15	T	A	10: 81,345,176 (GRCm39)	I230F	probably damaging	Het
Gnl2	A	G	4: 124,940,099 (GRCm39)	S324G	probably damaging	Het
Grid1	T	C	14: 35,031,250 (GRCm39)	V281A	probably benign	Het
Hebp2	G	A	10: 18,421,509 (GRCm39)	A12V	possibly damaging	Het
Hfm1	T	C	5: 107,000,989 (GRCm39)	D1254G	probably benign	Het
Hnrnpl	T	A	7: 28,513,348 (GRCm39)	N149K	possibly damaging	Het
Hoxc10	A	T	15: 102,875,635 (GRCm39)	S115C	probably damaging	Het
Hycc2	A	T	1: 58,578,766 (GRCm39)	D261E	probably benign	Het
Ifnab	T	C	4: 88,609,292 (GRCm39)	D58G	possibly damaging	Het
Itfg1	T	C	8: 86,537,243 (GRCm39)	T195A	probably benign	Het
Itpr3	T	A	17: 27,324,459 (GRCm39)		probably null	Het
Iws1	A	G	18: 32,213,334 (GRCm39)	D254G	probably benign	Het
Kl	C	A	5: 150,912,406 (GRCm39)	D718E	probably benign	Het
Lrit2	A	G	14: 36,790,784 (GRCm39)	I154M	probably benign	Het
Lrp2	T	C	2: 69,353,526 (GRCm39)	D578G	probably damaging	Het
Lss	T	G	10: 76,372,123 (GRCm39)	Y159*	probably null	Het
Mab21l1	C	A	3: 55,691,254 (GRCm39)	Y280*	probably null	Het
Maf	A	T	8: 116,419,909 (GRCm39)	S378T	probably benign	Het
Mast2	C	T	4: 116,287,716 (GRCm39)	V59I	probably benign	Het
Nisch	C	T	14: 30,902,895 (GRCm39)		probably benign	Het
Nova2	A	T	7: 18,691,479 (GRCm39)	N139Y	probably damaging	Het
Nup210	C	A	6: 91,013,358 (GRCm39)	D434Y	probably damaging	Het
Nvl	C	T	1: 180,936,724 (GRCm39)		probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or51g2	A	G	7: 102,623,086 (GRCm39)	Y38H	probably damaging	Het
Or56b1	A	G	7: 104,285,696 (GRCm39)	T272A	probably benign	Het
Or8k18	A	T	2: 86,085,585 (GRCm39)	Y151N	probably damaging	Het
Or8k3b	A	G	2: 86,520,677 (GRCm39)	V214A	possibly damaging	Het
Pbx3	T	C	2: 34,094,871 (GRCm39)	Y255C	probably damaging	Het
Pcyt1a	G	A	16: 32,270,611 (GRCm39)	E27K	possibly damaging	Het
Pex6	A	T	17: 47,024,990 (GRCm39)	T348S	probably benign	Het
Phf21b	A	G	15: 84,681,597 (GRCm39)	I251T	probably damaging	Het
Pkd2l2	T	C	18: 34,563,755 (GRCm39)	I490T	probably damaging	Het
Pla2g12a	T	A	3: 129,672,534 (GRCm39)	L56Q	probably damaging	Het
Plk4	A	G	3: 40,760,971 (GRCm39)	T434A	probably benign	Het
Ptpn13	A	G	5: 103,711,998 (GRCm39)	N1632S	probably benign	Het
Rfpl4	C	T	7: 5,113,711 (GRCm39)	V151M	probably damaging	Het
Rpain	G	C	11: 70,865,741 (GRCm39)	E169Q	probably damaging	Het
Samd8	T	A	14: 21,825,227 (GRCm39)	V124D	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc12a1	C	T	2: 125,032,215 (GRCm39)	T622I	probably damaging	Het
Slc17a3	T	A	13: 24,029,428 (GRCm39)	V67D	probably damaging	Het
Slc41a3	G	T	6: 90,621,198 (GRCm39)	V387L	probably damaging	Het
Slitrk1	T	A	14: 109,150,709 (GRCm39)	M1L	probably benign	Het
Stat4	T	C	1: 52,050,952 (GRCm39)	W4R	probably damaging	Het
Tas2r126	A	G	6: 42,411,502 (GRCm39)	T12A	probably benign	Het
Tbc1d24	A	G	17: 24,404,953 (GRCm39)	C64R	probably damaging	Het
Tcaf2	T	C	6: 42,606,440 (GRCm39)	S505G	probably benign	Het
Tiam2	T	C	17: 3,566,978 (GRCm39)	V1506A	probably benign	Het
Tmem9b	A	C	7: 109,336,156 (GRCm39)	S163A	probably benign	Het
Tmtc2	G	A	10: 105,139,519 (GRCm39)	S669L	probably damaging	Het
Tnpo3	A	T	6: 29,560,220 (GRCm39)	I641K	possibly damaging	Het
Ttn	C	T	2: 76,565,711 (GRCm39)	A28214T	probably damaging	Het
Utp11	G	A	4: 124,577,032 (GRCm39)	A113V	probably benign	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	Het
Vmn1r60	A	T	7: 5,547,902 (GRCm39)	I66N	probably benign	Het
Zeb2	T	C	2: 44,887,206 (GRCm39)	E572G	probably damaging	Het

Other mutations in Hif3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Hif3a	APN	7	16,785,841 (GRCm39)	splice site	probably null
IGL02496:Hif3a	APN	7	16,773,603 (GRCm39)	splice site	probably benign
IGL02572:Hif3a	APN	7	16,784,513 (GRCm39)	missense	probably null
IGL02638:Hif3a	APN	7	16,778,293 (GRCm39)	unclassified	probably benign
IGL02704:Hif3a	APN	7	16,784,686 (GRCm39)	unclassified	probably benign
IGL03000:Hif3a	APN	7	16,782,564 (GRCm39)	missense	probably benign	0.08
IGL03342:Hif3a	APN	7	16,775,047 (GRCm39)	missense	possibly damaging	0.92
R0265:Hif3a	UTSW	7	16,769,793 (GRCm39)	makesense	probably null
R0326:Hif3a	UTSW	7	16,778,325 (GRCm39)	missense	probably benign	0.01
R0396:Hif3a	UTSW	7	16,785,946 (GRCm39)	splice site	probably benign
R1494:Hif3a	UTSW	7	16,788,647 (GRCm39)	missense	probably damaging	1.00
R1548:Hif3a	UTSW	7	16,778,328 (GRCm39)	missense	probably benign	0.00
R1686:Hif3a	UTSW	7	16,778,789 (GRCm39)	missense	possibly damaging	0.46
R1916:Hif3a	UTSW	7	16,773,581 (GRCm39)	missense	possibly damaging	0.87
R2026:Hif3a	UTSW	7	16,778,322 (GRCm39)	missense	possibly damaging	0.81
R2032:Hif3a	UTSW	7	16,785,104 (GRCm39)	missense	probably damaging	1.00
R2354:Hif3a	UTSW	7	16,775,030 (GRCm39)	missense	probably damaging	1.00
R3693:Hif3a	UTSW	7	16,774,999 (GRCm39)	missense	probably damaging	1.00
R3780:Hif3a	UTSW	7	16,788,638 (GRCm39)	missense	probably damaging	1.00
R3921:Hif3a	UTSW	7	16,771,097 (GRCm39)	missense	possibly damaging	0.80
R4003:Hif3a	UTSW	7	16,778,844 (GRCm39)	missense	probably damaging	0.99
R4714:Hif3a	UTSW	7	16,790,196 (GRCm39)	missense	probably damaging	1.00
R4953:Hif3a	UTSW	7	16,784,490 (GRCm39)	missense	probably damaging	0.98
R5632:Hif3a	UTSW	7	16,784,580 (GRCm39)	missense	possibly damaging	0.94
R5778:Hif3a	UTSW	7	16,785,909 (GRCm39)	missense	probably damaging	1.00
R5877:Hif3a	UTSW	7	16,785,071 (GRCm39)	missense	probably damaging	1.00
R5995:Hif3a	UTSW	7	16,787,694 (GRCm39)	missense	probably benign	0.10
R6001:Hif3a	UTSW	7	16,784,486 (GRCm39)	missense	probably damaging	1.00
R6599:Hif3a	UTSW	7	16,776,530 (GRCm39)	missense	possibly damaging	0.68
R7218:Hif3a	UTSW	7	16,784,513 (GRCm39)	missense	probably damaging	1.00
R7478:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7479:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7480:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7482:Hif3a	UTSW	7	16,776,560 (GRCm39)	missense	possibly damaging	0.47
R7654:Hif3a	UTSW	7	16,783,021 (GRCm39)	missense	probably damaging	0.97
R7696:Hif3a	UTSW	7	16,788,712 (GRCm39)	missense	unknown
R8071:Hif3a	UTSW	7	16,782,686 (GRCm39)	missense	probably damaging	1.00
R8692:Hif3a	UTSW	7	16,788,701 (GRCm39)	missense	probably benign	0.45
R8826:Hif3a	UTSW	7	16,788,671 (GRCm39)	missense	probably damaging	1.00
R8852:Hif3a	UTSW	7	16,774,912 (GRCm39)	missense	probably benign	0.25
R8860:Hif3a	UTSW	7	16,774,912 (GRCm39)	missense	probably benign	0.25
R9653:Hif3a	UTSW	7	16,782,641 (GRCm39)	missense	probably damaging	1.00
R9784:Hif3a	UTSW	7	16,771,076 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTATGCCCAGCCAATGAAACC -3'
(R):5'- ACCTCTTGTAATCTTCAGCCTAAGACCC -3'

Sequencing Primer
(F):5'- tctatctctctatcttccatctccc -3'
(R):5'- TAAGACCCCCACCTCTGC -3'

Posted On

2014-04-13