Incidental Mutation 'R3950:Hyou1'
ID 307869
Institutional Source Beutler Lab
Gene Symbol Hyou1
Ensembl Gene ENSMUSG00000032115
Gene Name hypoxia up-regulated 1
Synonyms 140 kDa, Orp150, Cab140, Grp170, CBP-140
MMRRC Submission 040930-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3950 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44290840-44303662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44296524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 483 (T483I)
Ref Sequence ENSEMBL: ENSMUSP00000123700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066601] [ENSMUST00000159473] [ENSMUST00000160902] [ENSMUST00000161318] [ENSMUST00000217019] [ENSMUST00000162560]
AlphaFold Q9JKR6
Predicted Effect probably damaging
Transcript: ENSMUST00000066601
AA Change: T483I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115
AA Change: T483I

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 damaging
Transcript: ENSMUST00000160902
AA Change: T483I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125594
Gene: ENSMUSG00000032115
AA Change: T483I

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 probably damaging
Transcript: ENSMUST00000161318
AA Change: T483I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123700
Gene: ENSMUSG00000032115
AA Change: T483I

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: ENSMUST00000217019
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
  • 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Ahnak2 A T 12: 112,749,409 (GRCm39) I186N probably damaging Het
Appbp2 A G 11: 85,085,532 (GRCm39) I458T probably damaging Het
Arhgef25 T C 10: 127,021,013 (GRCm39) Y291C probably damaging Het
Ate1 T C 7: 130,069,022 (GRCm39) Y415C probably damaging Het
B4galt4 G T 16: 38,588,384 (GRCm39) A72S probably benign Het
C3 T C 17: 57,532,286 (GRCm39) R178G probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Col11a1 T C 3: 113,915,094 (GRCm39) probably null Het
Col22a1 A G 15: 71,849,207 (GRCm39) F294L possibly damaging Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Dync2h1 A T 9: 7,112,061 (GRCm39) Y276* probably null Het
Eea1 A T 10: 95,877,996 (GRCm39) N1389I probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fezf1 T A 6: 23,247,419 (GRCm39) K219* probably null Het
Fsd1 G A 17: 56,302,517 (GRCm39) probably null Het
Haspin A G 11: 73,027,221 (GRCm39) Y623H probably damaging Het
Hsd3b1 C T 3: 98,763,454 (GRCm39) V56M possibly damaging Het
Kdm2a A G 19: 4,393,260 (GRCm39) L365S possibly damaging Het
Kdm6b G T 11: 69,296,441 (GRCm39) P609T probably damaging Het
Klhl18 T A 9: 110,257,970 (GRCm39) Y490F probably damaging Het
Ky C T 9: 102,419,627 (GRCm39) Q545* probably null Het
L1td1 T C 4: 98,625,590 (GRCm39) L595P probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mug1 T A 6: 121,855,489 (GRCm39) V941E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Ninl A T 2: 150,794,408 (GRCm39) I740K possibly damaging Het
Npepl1 A G 2: 173,962,906 (GRCm39) N431D probably damaging Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pard6b C T 2: 167,941,114 (GRCm39) T367I probably damaging Het
Pcdhga7 A G 18: 37,849,568 (GRCm39) E525G probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pdhx A G 2: 102,865,586 (GRCm39) S199P probably damaging Het
Pdia2 C A 17: 26,416,590 (GRCm39) probably null Het
Pif1 C A 9: 65,499,116 (GRCm39) N445K probably damaging Het
Prickle4 T C 17: 47,999,507 (GRCm39) K349E probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpdc1 A T 13: 48,742,670 (GRCm39) M173K probably damaging Het
Rb1 A G 14: 73,500,102 (GRCm39) L515P probably damaging Het
Rcvrn A G 11: 67,590,877 (GRCm39) K154E probably damaging Het
Ros1 C T 10: 51,942,484 (GRCm39) V2059I probably damaging Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sema5a T C 15: 32,689,484 (GRCm39) Y1050H probably damaging Het
Slc25a28 C T 19: 43,652,708 (GRCm39) V318I probably benign Het
Srek1 G A 13: 103,881,403 (GRCm39) R408W unknown Het
Synrg C T 11: 83,880,641 (GRCm39) T444I probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Tmem127 T C 2: 127,090,577 (GRCm39) L31P probably damaging Het
Tmprss15 T A 16: 78,870,074 (GRCm39) T190S probably benign Het
Trip10 T A 17: 57,560,411 (GRCm39) probably null Het
Ttc6 A G 12: 57,696,292 (GRCm39) Y31C probably damaging Het
Unc80 A T 1: 66,661,729 (GRCm39) H1718L possibly damaging Het
Zbtb38 A G 9: 96,569,599 (GRCm39) F495S probably damaging Het
Zfp280d G T 9: 72,203,301 (GRCm39) Q16H possibly damaging Het
Zfp521 A G 18: 13,979,403 (GRCm39) S337P probably damaging Het
Zswim9 T A 7: 12,995,503 (GRCm39) T218S possibly damaging Het
Other mutations in Hyou1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Hyou1 APN 9 44,296,443 (GRCm39) missense probably benign 0.02
IGL01660:Hyou1 APN 9 44,292,414 (GRCm39) missense possibly damaging 0.75
IGL01677:Hyou1 APN 9 44,293,309 (GRCm39) missense probably benign 0.21
IGL01903:Hyou1 APN 9 44,292,438 (GRCm39) splice site probably benign
IGL02636:Hyou1 APN 9 44,292,707 (GRCm39) critical splice donor site probably null
IGL02806:Hyou1 APN 9 44,300,180 (GRCm39) nonsense probably null
IGL03401:Hyou1 APN 9 44,296,206 (GRCm39) missense probably damaging 1.00
IGL03410:Hyou1 APN 9 44,299,355 (GRCm39) missense probably benign
ANU74:Hyou1 UTSW 9 44,292,560 (GRCm39) missense possibly damaging 0.79
D3080:Hyou1 UTSW 9 44,295,774 (GRCm39) missense probably damaging 0.97
PIT4378001:Hyou1 UTSW 9 44,302,148 (GRCm39) missense probably benign 0.26
R0408:Hyou1 UTSW 9 44,295,989 (GRCm39) missense probably damaging 1.00
R0422:Hyou1 UTSW 9 44,300,539 (GRCm39) missense probably damaging 1.00
R1116:Hyou1 UTSW 9 44,295,978 (GRCm39) missense probably damaging 1.00
R1581:Hyou1 UTSW 9 44,300,167 (GRCm39) missense probably damaging 1.00
R1640:Hyou1 UTSW 9 44,300,703 (GRCm39) missense probably benign 0.02
R1803:Hyou1 UTSW 9 44,295,479 (GRCm39) nonsense probably null
R2060:Hyou1 UTSW 9 44,292,849 (GRCm39) missense probably benign 0.28
R2180:Hyou1 UTSW 9 44,299,316 (GRCm39) missense probably benign 0.30
R2233:Hyou1 UTSW 9 44,300,388 (GRCm39) missense probably benign 0.44
R2235:Hyou1 UTSW 9 44,300,388 (GRCm39) missense probably benign 0.44
R4198:Hyou1 UTSW 9 44,300,156 (GRCm39) missense probably damaging 1.00
R4200:Hyou1 UTSW 9 44,300,156 (GRCm39) missense probably damaging 1.00
R4363:Hyou1 UTSW 9 44,291,912 (GRCm39) splice site probably null
R4393:Hyou1 UTSW 9 44,293,169 (GRCm39) missense probably damaging 1.00
R4394:Hyou1 UTSW 9 44,293,169 (GRCm39) missense probably damaging 1.00
R4812:Hyou1 UTSW 9 44,298,418 (GRCm39) intron probably benign
R5239:Hyou1 UTSW 9 44,296,560 (GRCm39) missense possibly damaging 0.96
R5648:Hyou1 UTSW 9 44,296,546 (GRCm39) missense probably damaging 0.99
R5818:Hyou1 UTSW 9 44,300,223 (GRCm39) critical splice donor site probably null
R5856:Hyou1 UTSW 9 44,292,641 (GRCm39) missense probably damaging 1.00
R6431:Hyou1 UTSW 9 44,293,322 (GRCm39) critical splice donor site probably null
R6594:Hyou1 UTSW 9 44,300,619 (GRCm39) missense probably benign
R6596:Hyou1 UTSW 9 44,299,052 (GRCm39) missense probably benign 0.00
R6613:Hyou1 UTSW 9 44,293,795 (GRCm39) missense probably damaging 0.99
R6704:Hyou1 UTSW 9 44,292,431 (GRCm39) critical splice donor site probably null
R6849:Hyou1 UTSW 9 44,298,561 (GRCm39) missense probably damaging 0.99
R7494:Hyou1 UTSW 9 44,300,706 (GRCm39) missense probably benign 0.04
R7632:Hyou1 UTSW 9 44,292,433 (GRCm39) splice site probably null
R7711:Hyou1 UTSW 9 44,295,759 (GRCm39) missense possibly damaging 0.91
R8064:Hyou1 UTSW 9 44,296,882 (GRCm39) missense possibly damaging 0.80
R8287:Hyou1 UTSW 9 44,299,430 (GRCm39) missense probably benign 0.26
R9352:Hyou1 UTSW 9 44,300,926 (GRCm39) critical splice donor site probably null
R9385:Hyou1 UTSW 9 44,292,812 (GRCm39) missense probably benign 0.06
X0027:Hyou1 UTSW 9 44,302,153 (GRCm39) missense possibly damaging 0.89
Z1176:Hyou1 UTSW 9 44,299,039 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGATCTCTGTTCACCTCAGC -3'
(R):5'- GCCCTTCAAGTCCCGAATTC -3'

Sequencing Primer
(F):5'- TCGTCTGAGAGATCCTATTCCC -3'
(R):5'- AAGTCCCGAATTCCCCTCC -3'
Posted On 2015-04-17