Incidental Mutation 'R2060:Hyou1'
ID 228624
Institutional Source Beutler Lab
Gene Symbol Hyou1
Ensembl Gene ENSMUSG00000032115
Gene Name hypoxia up-regulated 1
Synonyms Grp170, Cab140, Orp150, 140 kDa, CBP-140
MMRRC Submission 040065-MU
Accession Numbers

Genbank: NM_021395; MGI: 108030

Essential gene? Essential (E-score: 1.000) question?
Stock # R2060 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44379490-44392369 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44381552 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 153 (V153A)
Ref Sequence ENSEMBL: ENSMUSP00000148882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066601] [ENSMUST00000159473] [ENSMUST00000160902] [ENSMUST00000161318] [ENSMUST00000162560] [ENSMUST00000217019]
AlphaFold Q9JKR6
Predicted Effect probably benign
Transcript: ENSMUST00000066601
AA Change: V153A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115
AA Change: V153A

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
AA Change: V102A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124177
Gene: ENSMUSG00000032115
AA Change: V102A

signal peptide 1 25 N/A INTRINSIC
Pfam:HSP70 38 226 2e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160112
Predicted Effect probably benign
Transcript: ENSMUST00000160902
AA Change: V153A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125594
Gene: ENSMUSG00000032115
AA Change: V153A

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 probably benign
Transcript: ENSMUST00000161318
AA Change: V153A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123700
Gene: ENSMUSG00000032115
AA Change: V153A

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
AA Change: V153A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123749
Gene: ENSMUSG00000032115
AA Change: V153A

signal peptide 1 28 N/A INTRINSIC
Pfam:HSP70 35 168 6.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217019
AA Change: V153A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217460
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430408G22Rik G A 6: 116,651,722 (GRCm38) V9M possibly damaging Het
Abca14 G A 7: 120,227,518 (GRCm38) W462* probably null Het
Aftph A T 11: 20,692,571 (GRCm38) Y821N probably damaging Het
Ahnak A T 19: 9,008,041 (GRCm38) M2230L probably benign Het
Arfgap1 T C 2: 180,972,782 (GRCm38) F144L probably benign Het
Arid4b C T 13: 14,195,452 (GRCm38) R1178C probably damaging Het
Asb8 A T 15: 98,141,373 (GRCm38) C49S possibly damaging Het
Baz1b A G 5: 135,205,114 (GRCm38) N165S probably damaging Het
BC017158 A G 7: 128,288,331 (GRCm38) L176P probably damaging Het
Bod1l A T 5: 41,808,742 (GRCm38) I2660N possibly damaging Het
C2cd3 T C 7: 100,454,948 (GRCm38) I825T probably damaging Het
C4b A G 17: 34,736,101 (GRCm38) W804R probably damaging Het
Cadm3 A T 1: 173,344,402 (GRCm38) D201E probably damaging Het
Cdh17 T C 4: 11,803,982 (GRCm38) F552L probably benign Het
Cdh7 G C 1: 110,048,877 (GRCm38) A91P probably damaging Het
Cela1 A G 15: 100,675,322 (GRCm38) probably null Het
Clk3 T C 9: 57,751,117 (GRCm38) Y582C probably damaging Het
Cma1 C T 14: 55,943,698 (GRCm38) probably null Het
Ctcfl A G 2: 173,118,506 (GRCm38) S95P probably benign Het
Cylc1 C A X: 111,123,123 (GRCm38) T391K unknown Het
Cyp3a11 T A 5: 145,855,081 (GRCm38) I501L probably benign Het
Cyp3a59 T A 5: 146,104,714 (GRCm38) L356Q probably damaging Het
Dcdc2a A C 13: 25,107,710 (GRCm38) D226A possibly damaging Het
Dlec1 A C 9: 119,112,086 (GRCm38) T235P probably damaging Het
Dnaaf1 G A 8: 119,590,602 (GRCm38) R290Q probably benign Het
Dnaaf5 C T 5: 139,178,003 (GRCm38) R377W probably damaging Het
Dpep1 T A 8: 123,200,391 (GRCm38) V293E probably damaging Het
Drosha T A 15: 12,924,159 (GRCm38) V1209E possibly damaging Het
Dync2h1 T G 9: 7,162,802 (GRCm38) I596L possibly damaging Het
Edem1 T A 6: 108,854,287 (GRCm38) Y570N probably damaging Het
Edrf1 G T 7: 133,657,129 (GRCm38) E9* probably null Het
Enpep T A 3: 129,280,523 (GRCm38) N792Y probably benign Het
Enpp2 A T 15: 54,875,714 (GRCm38) M391K probably damaging Het
Fanca A C 8: 123,274,481 (GRCm38) V1105G probably damaging Het
Fbxo22 T A 9: 55,218,383 (GRCm38) L74I probably damaging Het
Fchsd2 T A 7: 101,277,417 (GRCm38) F571L probably benign Het
Fhad1 T C 4: 141,899,249 (GRCm38) D1345G probably benign Het
G2e3 T C 12: 51,372,606 (GRCm38) F702L probably damaging Het
Glce A T 9: 62,060,946 (GRCm38) S308T possibly damaging Het
Glt1d1 A G 5: 127,657,119 (GRCm38) D119G probably benign Het
Gpr137c T C 14: 45,244,159 (GRCm38) I144T probably damaging Het
Gprin3 A G 6: 59,354,519 (GRCm38) C268R possibly damaging Het
Hadha G A 5: 30,128,836 (GRCm38) T395M probably benign Het
Hdhd2 T G 18: 76,965,042 (GRCm38) probably null Het
Homer2 C T 7: 81,618,703 (GRCm38) E70K probably benign Het
Hp1bp3 T A 4: 138,240,672 (GRCm38) D397E probably damaging Het
Hrh3 T C 2: 180,101,250 (GRCm38) N195S possibly damaging Het
Igf2r A T 17: 12,701,319 (GRCm38) S1378T possibly damaging Het
Ints4 G A 7: 97,501,763 (GRCm38) R279H possibly damaging Het
Itga10 A T 3: 96,654,998 (GRCm38) R699* probably null Het
Itpkb A G 1: 180,421,858 (GRCm38) T933A probably benign Het
Itsn2 T G 12: 4,627,879 (GRCm38) F79V probably damaging Het
Jak3 A T 8: 71,683,415 (GRCm38) K620* probably null Het
Jak3 C A 8: 71,680,714 (GRCm38) C350* probably null Het
Kcnq5 T C 1: 21,461,597 (GRCm38) S421G probably benign Het
Kdm2b A T 5: 122,883,365 (GRCm38) M50K probably damaging Het
Klk1b1 A G 7: 43,970,623 (GRCm38) D170G possibly damaging Het
Lama3 A T 18: 12,528,726 (GRCm38) T2160S probably benign Het
Lman1 A T 18: 65,998,352 (GRCm38) probably benign Het
Lmtk3 G A 7: 45,800,911 (GRCm38) probably null Het
Ltb A G 17: 35,195,763 (GRCm38) R180G probably damaging Het
Ltbp4 C T 7: 27,308,953 (GRCm38) R1310Q probably damaging Het
Macf1 T A 4: 123,499,919 (GRCm38) probably null Het
Mast4 G T 13: 102,738,846 (GRCm38) P1146Q probably damaging Het
Micall2 C T 5: 139,711,562 (GRCm38) S678N probably damaging Het
Mon2 A T 10: 122,995,776 (GRCm38) I1675N probably damaging Het
Mug2 A G 6: 122,079,612 (GRCm38) N1172S probably benign Het
Naa30 C G 14: 49,173,099 (GRCm38) S161R possibly damaging Het
Ncaph T C 2: 127,124,875 (GRCm38) N220D probably damaging Het
Nell1 T C 7: 50,560,830 (GRCm38) V497A possibly damaging Het
Ngly1 A G 14: 16,277,877 (GRCm38) N142S possibly damaging Het
Nin T A 12: 70,042,418 (GRCm38) T1408S possibly damaging Het
Nlrp4g T A 9: 124,349,693 (GRCm38) noncoding transcript Het
Nrg1 T G 8: 31,918,015 (GRCm38) E63D probably damaging Het
Ntn4 C T 10: 93,707,353 (GRCm38) R314W probably damaging Het
Olfr1167 T C 2: 88,149,143 (GRCm38) Y292C probably damaging Het
Olfr128 A G 17: 37,923,880 (GRCm38) T105A probably benign Het
Olfr473 C T 7: 107,933,661 (GRCm38) T47M probably benign Het
Olfr522 T A 7: 140,162,824 (GRCm38) E42V probably damaging Het
Olfr845 A G 9: 19,339,056 (GRCm38) I199V probably benign Het
Olfr851 T A 9: 19,497,237 (GRCm38) V163E possibly damaging Het
Olfr867 A T 9: 20,054,596 (GRCm38) I289N probably damaging Het
Olfr998 G A 2: 85,591,283 (GRCm38) V248I possibly damaging Het
Orc5 C T 5: 22,516,703 (GRCm38) probably null Het
Pard3 G A 8: 127,398,604 (GRCm38) R691Q probably benign Het
Pofut1 T A 2: 153,243,660 (GRCm38) D54E probably benign Het
Prl2c5 T A 13: 13,190,653 (GRCm38) V128E probably damaging Het
Ptk7 T C 17: 46,566,238 (GRCm38) M965V possibly damaging Het
Pum2 C T 12: 8,728,726 (GRCm38) R459* probably null Het
Pzp A T 6: 128,483,710 (GRCm38) N1494K probably benign Het
Rad21l A G 2: 151,645,429 (GRCm38) V545A probably benign Het
Rps6kc1 A T 1: 190,810,108 (GRCm38) M352K possibly damaging Het
Rpusd2 G A 2: 119,037,215 (GRCm38) probably null Het
Rsph14 A T 10: 75,029,771 (GRCm38) D78E probably damaging Het
Rtl9 A T X: 143,102,030 (GRCm38) M813L possibly damaging Het
Rtp4 A T 16: 23,612,940 (GRCm38) H74L probably damaging Het
Rusc1 G A 3: 89,087,848 (GRCm38) T725I possibly damaging Het
Ryr2 C T 13: 11,595,736 (GRCm38) C4068Y probably damaging Het
Ryr3 A G 2: 112,954,364 (GRCm38) V224A possibly damaging Het
Shprh A T 10: 11,152,120 (GRCm38) N157I probably benign Het
Siglece A G 7: 43,657,786 (GRCm38) I67T probably benign Het
Slc9b2 A T 3: 135,326,266 (GRCm38) T296S probably damaging Het
Sorbs2 A G 8: 45,775,629 (GRCm38) K276E probably damaging Het
Synj2 A G 17: 6,037,480 (GRCm38) T1269A probably benign Het
Taar7b T C 10: 24,000,675 (GRCm38) I246T possibly damaging Het
Taldo1 A G 7: 141,396,154 (GRCm38) Y113C probably damaging Het
Tarbp1 A T 8: 126,447,594 (GRCm38) probably null Het
Tars C T 15: 11,394,373 (GRCm38) M59I probably benign Het
Tas2r130 G A 6: 131,630,817 (GRCm38) T5I probably benign Het
Tex48 T C 4: 63,607,415 (GRCm38) E77G probably damaging Het
Tmco5 A G 2: 116,892,255 (GRCm38) R286G probably damaging Het
Trdmt1 A T 2: 13,519,914 (GRCm38) H243Q probably benign Het
Ttn T A 2: 76,734,294 (GRCm38) R26754* probably null Het
Ttn G A 2: 76,897,580 (GRCm38) probably benign Het
Ubqln3 A C 7: 104,142,151 (GRCm38) L244R probably damaging Het
Ubxn1 C T 19: 8,873,566 (GRCm38) R115* probably null Het
Umod T G 7: 119,476,715 (GRCm38) N276T probably damaging Het
Unc13c A T 9: 73,665,656 (GRCm38) L1528Q probably damaging Het
Unc80 T A 1: 66,640,595 (GRCm38) H2108Q possibly damaging Het
Utp20 A C 10: 88,774,795 (GRCm38) D1442E probably damaging Het
Utp4 A G 8: 106,898,521 (GRCm38) Q144R probably benign Het
Vmn2r17 T A 5: 109,427,209 (GRCm38) N127K probably benign Het
Vmn2r75 T A 7: 86,165,164 (GRCm38) T374S probably benign Het
Washc5 A G 15: 59,350,408 (GRCm38) F523L probably damaging Het
Wdr3 A T 3: 100,159,897 (GRCm38) probably null Het
Wdr89 T C 12: 75,632,988 (GRCm38) Y164C probably damaging Het
Xpo5 T C 17: 46,225,091 (GRCm38) S550P probably damaging Het
Zfp69 T C 4: 120,930,832 (GRCm38) T429A probably damaging Het
Zfpm1 G T 8: 122,336,592 (GRCm38) G797C probably benign Het
Other mutations in Hyou1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Hyou1 APN 9 44,385,146 (GRCm38) missense probably benign 0.02
IGL01660:Hyou1 APN 9 44,381,117 (GRCm38) missense possibly damaging 0.75
IGL01677:Hyou1 APN 9 44,382,012 (GRCm38) missense probably benign 0.21
IGL01903:Hyou1 APN 9 44,381,141 (GRCm38) splice site probably benign
IGL02636:Hyou1 APN 9 44,381,410 (GRCm38) critical splice donor site probably null
IGL02806:Hyou1 APN 9 44,388,883 (GRCm38) nonsense probably null
IGL03401:Hyou1 APN 9 44,384,909 (GRCm38) missense probably damaging 1.00
IGL03410:Hyou1 APN 9 44,388,058 (GRCm38) missense probably benign
ANU74:Hyou1 UTSW 9 44,381,263 (GRCm38) missense possibly damaging 0.79
D3080:Hyou1 UTSW 9 44,384,477 (GRCm38) missense probably damaging 0.97
PIT4378001:Hyou1 UTSW 9 44,390,851 (GRCm38) missense probably benign 0.26
R0408:Hyou1 UTSW 9 44,384,692 (GRCm38) missense probably damaging 1.00
R0422:Hyou1 UTSW 9 44,389,242 (GRCm38) missense probably damaging 1.00
R1116:Hyou1 UTSW 9 44,384,681 (GRCm38) missense probably damaging 1.00
R1581:Hyou1 UTSW 9 44,388,870 (GRCm38) missense probably damaging 1.00
R1640:Hyou1 UTSW 9 44,389,406 (GRCm38) missense probably benign 0.02
R1803:Hyou1 UTSW 9 44,384,182 (GRCm38) nonsense probably null
R2180:Hyou1 UTSW 9 44,388,019 (GRCm38) missense probably benign 0.30
R2233:Hyou1 UTSW 9 44,389,091 (GRCm38) missense probably benign 0.44
R2235:Hyou1 UTSW 9 44,389,091 (GRCm38) missense probably benign 0.44
R3950:Hyou1 UTSW 9 44,385,227 (GRCm38) missense probably damaging 1.00
R4198:Hyou1 UTSW 9 44,388,859 (GRCm38) missense probably damaging 1.00
R4200:Hyou1 UTSW 9 44,388,859 (GRCm38) missense probably damaging 1.00
R4363:Hyou1 UTSW 9 44,380,615 (GRCm38) splice site probably null
R4393:Hyou1 UTSW 9 44,381,872 (GRCm38) missense probably damaging 1.00
R4394:Hyou1 UTSW 9 44,381,872 (GRCm38) missense probably damaging 1.00
R4812:Hyou1 UTSW 9 44,387,121 (GRCm38) intron probably benign
R5239:Hyou1 UTSW 9 44,385,263 (GRCm38) missense possibly damaging 0.96
R5648:Hyou1 UTSW 9 44,385,249 (GRCm38) missense probably damaging 0.99
R5818:Hyou1 UTSW 9 44,388,926 (GRCm38) critical splice donor site probably null
R5856:Hyou1 UTSW 9 44,381,344 (GRCm38) missense probably damaging 1.00
R6431:Hyou1 UTSW 9 44,382,025 (GRCm38) critical splice donor site probably null
R6594:Hyou1 UTSW 9 44,389,322 (GRCm38) missense probably benign
R6596:Hyou1 UTSW 9 44,387,755 (GRCm38) missense probably benign 0.00
R6613:Hyou1 UTSW 9 44,382,498 (GRCm38) missense probably damaging 0.99
R6704:Hyou1 UTSW 9 44,381,134 (GRCm38) critical splice donor site probably null
R6849:Hyou1 UTSW 9 44,387,264 (GRCm38) missense probably damaging 0.99
R7494:Hyou1 UTSW 9 44,389,409 (GRCm38) missense probably benign 0.04
R7632:Hyou1 UTSW 9 44,381,136 (GRCm38) splice site probably null
R7711:Hyou1 UTSW 9 44,384,462 (GRCm38) missense possibly damaging 0.91
R8064:Hyou1 UTSW 9 44,385,585 (GRCm38) missense possibly damaging 0.80
R8287:Hyou1 UTSW 9 44,388,133 (GRCm38) missense probably benign 0.26
R9352:Hyou1 UTSW 9 44,389,629 (GRCm38) critical splice donor site probably null
R9385:Hyou1 UTSW 9 44,381,515 (GRCm38) missense probably benign 0.06
X0027:Hyou1 UTSW 9 44,390,856 (GRCm38) missense possibly damaging 0.89
Z1176:Hyou1 UTSW 9 44,387,742 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-17