Incidental Mutation 'R2255:Herpud1'
ID 241953
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 040255-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R2255 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95113066-95122005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95121241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 344 (E344G)
Ref Sequence ENSEMBL: ENSMUSP00000034220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034220] [ENSMUST00000161085] [ENSMUST00000161576] [ENSMUST00000211982]
AlphaFold Q9JJK5
Predicted Effect probably benign
Transcript: ENSMUST00000034220
AA Change: E344G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034220
Gene: ENSMUSG00000031770
AA Change: E344G

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 noncoding transcript
Transcript: ENSMUST00000160866
Predicted Effect probably benign
Transcript: ENSMUST00000161085
Predicted Effect probably benign
Transcript: ENSMUST00000161576
AA Change: E345G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124201
Gene: ENSMUSG00000031770
AA Change: E345G

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 benign
Transcript: ENSMUST00000211982
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G A 17: 46,616,561 (GRCm39) T1210I probably benign Het
Agbl1 T C 7: 76,071,932 (GRCm39) F581S probably damaging Het
Ambra1 A T 2: 91,747,806 (GRCm39) N1061Y probably damaging Het
Aoc1l1 G A 6: 48,952,891 (GRCm39) R272H possibly damaging Het
Arl6ip5 T C 6: 97,209,361 (GRCm39) L132S probably damaging Het
Atp10b G A 11: 43,125,207 (GRCm39) V1058I probably damaging Het
B3gnt4 A C 5: 123,649,342 (GRCm39) I236L probably damaging Het
Bmper T A 9: 23,292,759 (GRCm39) I356N possibly damaging Het
Bpifa6 T A 2: 153,832,815 (GRCm39) I310N probably damaging Het
Btnl9 A T 11: 49,060,143 (GRCm39) L535* probably null Het
Capn3 A G 2: 120,331,732 (GRCm39) E614G probably benign Het
Catip T C 1: 74,408,159 (GRCm39) probably benign Het
Ccdc180 T A 4: 45,921,996 (GRCm39) S1023R probably damaging Het
Ces2g G A 8: 105,694,046 (GRCm39) E461K probably damaging Het
Chad C A 11: 94,456,523 (GRCm39) H200Q possibly damaging Het
Crbn C T 6: 106,772,159 (GRCm39) probably null Het
Crip3 G C 17: 46,740,298 (GRCm39) E33Q probably damaging Het
D130043K22Rik A T 13: 25,040,894 (GRCm39) R105S probably damaging Het
Dmxl1 C T 18: 49,979,706 (GRCm39) H114Y probably benign Het
Dpp3 T C 19: 4,968,347 (GRCm39) N242D probably benign Het
Dtx3l T C 16: 35,756,949 (GRCm39) N78S probably benign Het
Dync2h1 A G 9: 6,955,905 (GRCm39) probably null Het
Esrp1 A G 4: 11,365,211 (GRCm39) V260A probably damaging Het
Etfdh A G 3: 79,511,349 (GRCm39) V544A probably benign Het
Ezhip T G X: 5,994,754 (GRCm39) E87A probably benign Het
Fcgr1 G T 3: 96,193,233 (GRCm39) H255N possibly damaging Het
Fcrl2 G T 3: 87,164,655 (GRCm39) Y290* probably null Het
Frem2 A G 3: 53,559,935 (GRCm39) V1524A probably damaging Het
Gabbr1 T C 17: 37,382,758 (GRCm39) I817T probably damaging Het
Gapdhs G C 7: 30,429,333 (GRCm39) probably null Het
Gm57858 A G 3: 36,074,099 (GRCm39) V350A probably benign Het
Gopc A T 10: 52,225,181 (GRCm39) I356K probably damaging Het
Gpi1 T C 7: 33,902,302 (GRCm39) N471S probably damaging Het
Gpr171 A G 3: 59,005,628 (GRCm39) V49A probably benign Het
Greb1l T A 18: 10,554,857 (GRCm39) N1634K probably damaging Het
Gria1 G A 11: 57,076,775 (GRCm39) R57H probably damaging Het
Hhip A G 8: 80,771,810 (GRCm39) F167L probably damaging Het
Hp1bp3 T A 4: 137,953,209 (GRCm39) D84E probably damaging Het
Ier3 A G 17: 36,133,153 (GRCm39) Y145C probably damaging Het
Ifi47 A T 11: 48,987,474 (GRCm39) I414L probably benign Het
Ifnl2 C T 7: 28,209,638 (GRCm39) A50T possibly damaging Het
Jade1 A G 3: 41,546,185 (GRCm39) Y70C probably damaging Het
Kif1b A T 4: 149,359,454 (GRCm39) F94L probably damaging Het
Krt33a A T 11: 99,905,004 (GRCm39) D167E possibly damaging Het
Map1a A G 2: 121,134,272 (GRCm39) D1458G possibly damaging Het
Mrgpra4 A G 7: 47,631,523 (GRCm39) L26S possibly damaging Het
Mtmr2 T C 9: 13,707,353 (GRCm39) Y230H possibly damaging Het
Nae1 T A 8: 105,256,700 (GRCm39) D69V probably damaging Het
Nbr1 T A 11: 101,463,643 (GRCm39) V625E possibly damaging Het
Nek1 T C 8: 61,542,807 (GRCm39) L702P probably damaging Het
Ntf3 T C 6: 126,078,689 (GRCm39) *272W probably null Het
Ofcc1 A C 13: 40,248,181 (GRCm39) L651R probably damaging Het
Olfm3 A T 3: 114,915,842 (GRCm39) probably null Het
Pcdhb19 C T 18: 37,630,997 (GRCm39) A264V probably benign Het
Pear1 C A 3: 87,659,493 (GRCm39) W780C probably damaging Het
Pkhd1 T A 1: 20,635,863 (GRCm39) H489L probably benign Het
Pros1 T A 16: 62,723,935 (GRCm39) C228S possibly damaging Het
Rbm10 G A X: 20,501,978 (GRCm39) R9H unknown Het
Rwdd1 T C 10: 33,878,466 (GRCm39) E123G probably damaging Het
Slc22a2 G T 17: 12,818,062 (GRCm39) V213F probably damaging Het
Slc34a1 T C 13: 24,004,991 (GRCm39) I412T probably benign Het
Smarca2 A T 19: 26,748,438 (GRCm39) I98L probably benign Het
Spag6l T C 16: 16,595,203 (GRCm39) E394G probably damaging Het
Spdef T C 17: 27,939,269 (GRCm39) T26A probably benign Het
Stk17b T C 1: 53,815,731 (GRCm39) I23V probably benign Het
Sult2a7 A G 7: 14,225,818 (GRCm39) I56T probably damaging Het
Tango6 T A 8: 107,415,926 (GRCm39) probably null Het
Tex46 T C 4: 136,337,844 (GRCm39) L12P possibly damaging Het
Ttn T A 2: 76,598,684 (GRCm39) M19410L possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Unc5cl T A 17: 48,766,974 (GRCm39) I116N possibly damaging Het
Unc80 A T 1: 66,657,417 (GRCm39) I1630F possibly damaging Het
Upb1 G A 10: 75,272,051 (GRCm39) R288H probably damaging Het
Wdr62 T G 7: 29,967,328 (GRCm39) I309L probably damaging Het
Whrn C T 4: 63,336,385 (GRCm39) V295M possibly damaging Het
Wrn G A 8: 33,819,230 (GRCm39) P241S probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp687 A T 3: 94,917,748 (GRCm39) C675S probably damaging Het
Zfp954 A G 7: 7,118,321 (GRCm39) Y408H possibly damaging 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
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
R8036:Herpud1 UTSW 8 95,119,014 (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'- TATTTGATAGTAACTGAAGGCCCC -3'
(R):5'- TCCAGTCCGAGCTGTCAAAG -3'

Sequencing Primer
(F):5'- TTCTCTGACGCTGGCCAAG -3'
(R):5'- GCCACCAGCGACAGAGC -3'
Posted On 2014-10-16