Incidental Mutation 'IGL02806:Hyou1'
ID360439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hyou1
Ensembl Gene ENSMUSG00000032115
Gene Namehypoxia up-regulated 1
SynonymsGrp170, Cab140, Orp150, 140 kDa, CBP-140
Accession Numbers

Genbank: NM_021395; MGI: 108030

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02806
Quality Score
Status
Chromosome9
Chromosomal Location44379490-44392369 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 44388883 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 823 (S823*)
Ref Sequence ENSEMBL: ENSMUSP00000123700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066601] [ENSMUST00000159473] [ENSMUST00000160902] [ENSMUST00000161318] [ENSMUST00000162560]
Predicted Effect probably null
Transcript: ENSMUST00000066601
AA Change: S823*
SMART Domains Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115
AA Change: S823*

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:HSP70 35 669 1.3e-101 PFAM
Pfam:HSP70 690 814 2.1e-6 PFAM
low complexity region 970 986 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159473
SMART Domains Protein: ENSMUSP00000124177
Gene: ENSMUSG00000032115

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:HSP70 38 226 2e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160112
Predicted Effect probably null
Transcript: ENSMUST00000160902
AA Change: S823*
SMART Domains Protein: ENSMUSP00000125594
Gene: ENSMUSG00000032115
AA Change: S823*

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:HSP70 35 671 3.8e-101 PFAM
Pfam:HSP70 690 814 1.2e-6 PFAM
low complexity region 970 986 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161147
Predicted Effect probably null
Transcript: ENSMUST00000161318
AA Change: S823*
SMART Domains Protein: ENSMUSP00000123700
Gene: ENSMUSG00000032115
AA Change: S823*

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:HSP70 35 671 3.8e-101 PFAM
Pfam:HSP70 690 814 1.2e-6 PFAM
low complexity region 970 986 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161537
Predicted Effect probably benign
Transcript: ENSMUST00000162560
SMART Domains Protein: ENSMUSP00000123749
Gene: ENSMUSG00000032115

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:HSP70 35 168 6.5e-20 PFAM
Coding Region Coverage
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 belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous mice display increased susceptibility to induced neuronal cell death. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Gene trapped(5)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,946,494 D1274G possibly damaging Het
Acot4 A G 12: 84,041,963 D195G probably damaging Het
Acsm1 G A 7: 119,636,638 D194N probably benign Het
Akr1b3 T C 6: 34,304,319 Y310C probably damaging Het
Aldh6a1 T C 12: 84,439,640 D168G probably damaging Het
Ankrd29 A C 18: 12,275,738 S166A probably benign Het
Ap1m2 T G 9: 21,305,683 D119A probably damaging Het
Atp1a3 T C 7: 24,981,872 K776R probably damaging Het
Cacna2d3 A C 14: 29,351,950 probably null Het
Ccdc51 T C 9: 109,092,248 M401T probably benign Het
Cchcr1 A G 17: 35,525,256 probably benign Het
Cspg4 T C 9: 56,890,259 S1336P possibly damaging Het
Ddx60 T A 8: 61,956,122 D397E probably benign Het
Duox2 T C 2: 122,284,666 H1110R probably damaging Het
Ephb3 C A 16: 21,222,281 D696E probably benign Het
Ermap T C 4: 119,188,916 K6E possibly damaging Het
Gm3095 A G 14: 3,964,519 D79G possibly damaging Het
Hnrnpab A G 11: 51,605,478 S126P probably benign Het
Klhl31 T A 9: 77,655,774 V607E probably damaging Het
Klrc3 A T 6: 129,639,102 C209S possibly damaging Het
Lhx4 G A 1: 155,702,229 P389L probably benign Het
Lmntd2 T C 7: 141,212,039 T264A probably benign Het
Mkx T C 18: 6,937,025 D302G probably damaging Het
Ms4a4d T C 19: 11,556,246 S164P possibly damaging Het
Myo1e A G 9: 70,362,270 E651G probably benign Het
Myo5b G A 18: 74,617,080 probably null Het
Ncoa3 A G 2: 166,052,432 I298V probably benign Het
Nek1 G A 8: 61,044,086 M389I probably benign Het
Nid1 T A 13: 13,468,312 D278E probably benign Het
Nkx2-9 C T 12: 56,611,920 V170M probably damaging Het
Olfr610 T A 7: 103,506,003 K314N probably benign Het
Oxsr1 T C 9: 119,241,194 D511G possibly damaging Het
Pramef17 T A 4: 143,992,931 probably null Het
Rbm44 T C 1: 91,153,077 L329S possibly damaging Het
Setd7 A T 3: 51,550,267 N46K probably damaging Het
Snx10 T A 6: 51,588,349 F149I probably damaging Het
Sult2a3 T A 7: 14,122,932 E21V probably damaging Het
Tas2r135 T C 6: 42,406,448 F307S probably benign Het
Tmem131l T C 3: 83,928,816 probably benign Het
Tnfsf18 T G 1: 161,503,779 M166R possibly damaging Het
Toe1 C T 4: 116,806,330 V88M possibly damaging Het
Ttk T A 9: 83,862,487 C577* probably null Het
Ush2a T A 1: 188,810,357 Y3373* probably null Het
Vwa8 A G 14: 79,157,088 D1543G probably benign Het
Zfhx4 A T 3: 5,390,408 H1154L probably benign Het
Other mutations in Hyou1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Hyou1 APN 9 44385146 missense probably benign 0.02
IGL01660:Hyou1 APN 9 44381117 missense possibly damaging 0.75
IGL01677:Hyou1 APN 9 44382012 missense probably benign 0.21
IGL01903:Hyou1 APN 9 44381141 splice site probably benign
IGL02636:Hyou1 APN 9 44381410 critical splice donor site probably null
IGL03401:Hyou1 APN 9 44384909 missense probably damaging 1.00
IGL03410:Hyou1 APN 9 44388058 missense probably benign
ANU74:Hyou1 UTSW 9 44381263 missense possibly damaging 0.79
D3080:Hyou1 UTSW 9 44384477 missense probably damaging 0.97
PIT4378001:Hyou1 UTSW 9 44390851 missense probably benign 0.26
R0408:Hyou1 UTSW 9 44384692 missense probably damaging 1.00
R0422:Hyou1 UTSW 9 44389242 missense probably damaging 1.00
R1116:Hyou1 UTSW 9 44384681 missense probably damaging 1.00
R1581:Hyou1 UTSW 9 44388870 missense probably damaging 1.00
R1640:Hyou1 UTSW 9 44389406 missense probably benign 0.02
R1803:Hyou1 UTSW 9 44384182 nonsense probably null
R2060:Hyou1 UTSW 9 44381552 missense probably benign 0.28
R2180:Hyou1 UTSW 9 44388019 missense probably benign 0.30
R2233:Hyou1 UTSW 9 44389091 missense probably benign 0.44
R2235:Hyou1 UTSW 9 44389091 missense probably benign 0.44
R3950:Hyou1 UTSW 9 44385227 missense probably damaging 1.00
R4198:Hyou1 UTSW 9 44388859 missense probably damaging 1.00
R4200:Hyou1 UTSW 9 44388859 missense probably damaging 1.00
R4363:Hyou1 UTSW 9 44380615 splice site probably null
R4393:Hyou1 UTSW 9 44381872 missense probably damaging 1.00
R4394:Hyou1 UTSW 9 44381872 missense probably damaging 1.00
R4812:Hyou1 UTSW 9 44387121 intron probably benign
R5239:Hyou1 UTSW 9 44385263 missense possibly damaging 0.96
R5648:Hyou1 UTSW 9 44385249 missense probably damaging 0.99
R5818:Hyou1 UTSW 9 44388926 critical splice donor site probably null
R5856:Hyou1 UTSW 9 44381344 missense probably damaging 1.00
R6431:Hyou1 UTSW 9 44382025 critical splice donor site probably null
R6594:Hyou1 UTSW 9 44389322 missense probably benign
R6596:Hyou1 UTSW 9 44387755 missense probably benign 0.00
R6613:Hyou1 UTSW 9 44382498 missense probably damaging 0.99
R6704:Hyou1 UTSW 9 44381134 critical splice donor site probably null
R6849:Hyou1 UTSW 9 44387264 missense probably damaging 0.99
R7494:Hyou1 UTSW 9 44389409 missense probably benign 0.04
R7632:Hyou1 UTSW 9 44381136 splice site probably null
R7711:Hyou1 UTSW 9 44384462 missense possibly damaging 0.91
R8064:Hyou1 UTSW 9 44385585 missense possibly damaging 0.80
X0027:Hyou1 UTSW 9 44390856 missense possibly damaging 0.89
Z1176:Hyou1 UTSW 9 44387742 nonsense probably null
Posted On2015-12-18