Incidental Mutation 'R8036:Herpud1'
ID 618248
Institutional Source Beutler Lab
Gene Symbol Herpud1
Ensembl Gene ENSMUSG00000031770
Gene Name homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1
Synonyms Mifl, Herp
MMRRC Submission 067473-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R8036 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 95113066-95122005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95119014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 256 (E256G)
Ref Sequence ENSEMBL: ENSMUSP00000124201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034220] [ENSMUST00000161085] [ENSMUST00000161576] [ENSMUST00000211982]
AlphaFold Q9JJK5
Predicted Effect probably damaging
Transcript: ENSMUST00000034220
AA Change: E255G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034220
Gene: ENSMUSG00000031770
AA Change: E255G

DomainStartEndE-ValueType
UBQ 10 86 1.99e-13 SMART
low complexity region 216 242 N/A INTRINSIC
low complexity region 273 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159450
Predicted Effect probably benign
Transcript: ENSMUST00000161085
Predicted Effect probably damaging
Transcript: ENSMUST00000161576
AA Change: E256G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124201
Gene: ENSMUSG00000031770
AA Change: E256G

DomainStartEndE-ValueType
UBQ 10 87 7.55e-14 SMART
low complexity region 217 243 N/A INTRINSIC
low complexity region 274 291 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211982
AA Change: E132G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired glucose tolerance and decreased cerebral infarction size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,236,818 (GRCm39) V1473A possibly damaging Het
Akap9 T A 5: 4,120,397 (GRCm39) C3604* probably null Het
Alas1 A G 9: 106,112,721 (GRCm39) I545T probably benign Het
Anpep A C 7: 79,491,646 (GRCm39) D118E probably benign Het
Arhgef17 A T 7: 100,579,062 (GRCm39) S629T probably damaging Het
Arid2 C T 15: 96,266,625 (GRCm39) R558C probably damaging Het
Camk2n1 A G 4: 138,184,056 (GRCm39) D65G probably damaging Het
Ccdc177 T C 12: 80,804,897 (GRCm39) N459S unknown Het
Cenpe ACTCTCT ACTCT 3: 134,945,609 (GRCm39) probably null Het
Crb1 T C 1: 139,165,122 (GRCm39) I1062V probably benign Het
Decr2 A G 17: 26,301,962 (GRCm39) L256P probably damaging Het
Dhx37 T C 5: 125,501,739 (GRCm39) M507V probably benign Het
Disp1 A G 1: 182,870,803 (GRCm39) I539T probably damaging Het
Dqx1 T A 6: 83,036,788 (GRCm39) V264E probably damaging Het
Enpp4 A G 17: 44,413,136 (GRCm39) S133P possibly damaging Het
Fam149a T C 8: 45,802,048 (GRCm39) T476A probably benign Het
Fam20b A G 1: 156,533,407 (GRCm39) W70R probably damaging Het
Fbxl13 T A 5: 21,728,566 (GRCm39) N508Y probably damaging Het
Fjx1 A G 2: 102,280,720 (GRCm39) L405P probably damaging Het
Fn1 G A 1: 71,629,310 (GRCm39) Q2399* probably null Het
Foxa2 G C 2: 147,885,909 (GRCm39) T308S probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm10521 A G 1: 171,723,752 (GRCm39) D21G unknown Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Kctd13 A G 7: 126,528,414 (GRCm39) D63G possibly damaging Het
Lamp3 C A 16: 19,519,809 (GRCm39) D125Y probably damaging Het
Luzp2 A G 7: 54,724,823 (GRCm39) D128G probably damaging Het
Lyve1 A G 7: 110,458,649 (GRCm39) C105R probably damaging Het
Mlkl A T 8: 112,060,086 (GRCm39) V100E probably damaging Het
Muc5b T C 7: 141,421,478 (GRCm39) S4323P possibly damaging Het
Myoz3 T G 18: 60,713,922 (GRCm39) probably null Het
Nlrp9c T A 7: 26,070,864 (GRCm39) N906Y possibly damaging Het
Odad1 A G 7: 45,592,276 (GRCm39) D352G probably benign Het
Or10x4 A G 1: 174,219,382 (GRCm39) H249R probably damaging Het
Or51f23 A T 7: 102,452,763 (GRCm39) H26L possibly damaging Het
Or8b49 T C 9: 38,506,186 (GRCm39) F223S probably benign Het
Or8w1 C T 2: 87,465,847 (GRCm39) M81I probably benign Het
Pcsk9 G A 4: 106,311,536 (GRCm39) H232Y possibly damaging Het
Plec A G 15: 76,063,380 (GRCm39) I2230T possibly damaging Het
Pou2f3 T A 9: 43,058,205 (GRCm39) T47S probably damaging Het
Rab8a A T 8: 72,928,439 (GRCm39) I106F probably damaging Het
Relch A T 1: 105,605,902 (GRCm39) I181F probably damaging Het
Ros1 A T 10: 52,041,439 (GRCm39) S295T probably benign Het
Sh3yl1 T A 12: 30,992,098 (GRCm39) N222K possibly damaging Het
Slc6a9 C T 4: 117,725,083 (GRCm39) A559V possibly damaging Het
Spata20 T G 11: 94,369,963 (GRCm39) I778L probably benign Het
Taar1 A T 10: 23,797,033 (GRCm39) T244S probably benign Het
Tmem229b C A 12: 79,011,862 (GRCm39) C23F probably damaging Het
Ttll4 A G 1: 74,718,389 (GRCm39) Y80C probably benign Het
Ube2m G A 7: 12,769,566 (GRCm39) T176I probably benign Het
Zfp790 G A 7: 29,528,346 (GRCm39) A344T possibly damaging Het
Zfp90 G A 8: 107,145,760 (GRCm39) V31M probably benign Het
Zswim4 C T 8: 84,949,918 (GRCm39) R659Q probably benign Het
Other mutations in Herpud1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02506:Herpud1 APN 8 95,121,270 (GRCm39) nonsense probably null
R1667:Herpud1 UTSW 8 95,115,994 (GRCm39) missense probably damaging 1.00
R2015:Herpud1 UTSW 8 95,118,834 (GRCm39) missense probably benign 0.44
R2255:Herpud1 UTSW 8 95,121,241 (GRCm39) missense probably benign 0.06
R3707:Herpud1 UTSW 8 95,118,867 (GRCm39) missense probably damaging 1.00
R4940:Herpud1 UTSW 8 95,117,470 (GRCm39) missense probably benign 0.18
R4961:Herpud1 UTSW 8 95,117,454 (GRCm39) missense probably benign 0.00
R4981:Herpud1 UTSW 8 95,118,422 (GRCm39) missense probably damaging 1.00
R5214:Herpud1 UTSW 8 95,117,479 (GRCm39) splice site probably null
R5499:Herpud1 UTSW 8 95,116,041 (GRCm39) missense probably damaging 1.00
R5835:Herpud1 UTSW 8 95,118,867 (GRCm39) missense probably damaging 1.00
R5985:Herpud1 UTSW 8 95,117,422 (GRCm39) missense probably damaging 1.00
R6702:Herpud1 UTSW 8 95,119,154 (GRCm39) critical splice donor site probably null
R6794:Herpud1 UTSW 8 95,121,398 (GRCm39) splice site probably null
R7060:Herpud1 UTSW 8 95,117,391 (GRCm39) missense probably benign 0.04
R7100:Herpud1 UTSW 8 95,117,475 (GRCm39) missense probably damaging 0.98
R7328:Herpud1 UTSW 8 95,113,248 (GRCm39) missense possibly damaging 0.76
R7384:Herpud1 UTSW 8 95,116,005 (GRCm39) missense probably damaging 0.98
R7898:Herpud1 UTSW 8 95,118,828 (GRCm39) missense probably benign 0.05
R8025:Herpud1 UTSW 8 95,119,149 (GRCm39) missense probably damaging 1.00
R8872:Herpud1 UTSW 8 95,113,213 (GRCm39) unclassified probably benign
R8965:Herpud1 UTSW 8 95,118,469 (GRCm39) missense probably damaging 1.00
R9022:Herpud1 UTSW 8 95,116,197 (GRCm39) missense possibly damaging 0.68
R9050:Herpud1 UTSW 8 95,117,454 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTGCACAAGAGATACCTGTGG -3'
(R):5'- CCTCCTTTAAGGGTCACAGACTG -3'

Sequencing Primer
(F):5'- AGAGATACCTGTGGTCTCTACAC -3'
(R):5'- GGGTCACAGACTGAAAGAATCTATC -3'
Posted On 2020-01-23