Incidental Mutation 'R6702:Herpud1'
ID 528819
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 044820-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R6702 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 95113066-95122005 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 95119154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034220] [ENSMUST00000161085] [ENSMUST00000161576] [ENSMUST00000211982]
AlphaFold Q9JJK5
Predicted Effect probably null
Transcript: ENSMUST00000034220
SMART Domains Protein: ENSMUSP00000034220
Gene: ENSMUSG00000031770

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 null
Transcript: ENSMUST00000161576
SMART Domains Protein: ENSMUSP00000124201
Gene: ENSMUSG00000031770

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
Meta Mutation Damage Score 0.9501 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 97% (59/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T A 10: 21,497,558 (GRCm39) Y66* probably null Het
Ak3 A G 19: 29,003,627 (GRCm39) V183A probably damaging Het
Ano10 G T 9: 122,088,630 (GRCm39) Q397K possibly damaging Het
Atg7 C A 6: 114,648,058 (GRCm39) probably null Het
Brpf3 A C 17: 29,029,633 (GRCm39) N531T probably benign Het
Casp2 T C 6: 42,244,985 (GRCm39) V128A probably benign Het
Cdcp2 T C 4: 106,964,283 (GRCm39) C378R probably benign Het
Cfap54 T A 10: 92,704,596 (GRCm39) D2828V unknown Het
Col6a3 T C 1: 90,707,161 (GRCm39) D1984G unknown Het
Csnk2a1 A G 2: 152,100,608 (GRCm39) T93A probably benign Het
Ddx54 T A 5: 120,764,568 (GRCm39) D758E possibly damaging Het
Dlx2 A G 2: 71,376,571 (GRCm39) S56P probably damaging Het
Dna2 T A 10: 62,809,073 (GRCm39) I1055N possibly damaging Het
Dnah10 A G 5: 124,882,869 (GRCm39) Y2909C probably damaging Het
Dnm3 A G 1: 162,146,256 (GRCm39) F296L probably benign Het
Fat1 A G 8: 45,406,083 (GRCm39) T945A probably benign Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Kif26b C G 1: 178,744,852 (GRCm39) S1649R possibly damaging Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Ltbr A G 6: 125,285,031 (GRCm39) S290P probably benign Het
Map4k1 T G 7: 28,701,821 (GRCm39) S803A possibly damaging Het
Mef2c T A 13: 83,773,525 (GRCm39) C134S possibly damaging Het
Myo15a A G 11: 60,383,818 (GRCm39) I1622V probably benign Het
Nbea A G 3: 55,912,923 (GRCm39) Y955H probably benign Het
Ndor1 A G 2: 25,139,902 (GRCm39) F142S possibly damaging Het
Nynrin A G 14: 56,101,935 (GRCm39) T535A possibly damaging Het
Or4k15 A G 14: 50,364,688 (GRCm39) Y218C probably damaging Het
Or4k42 T A 2: 111,320,454 (GRCm39) probably null Het
Or5ac23 C T 16: 59,148,961 (GRCm39) V304I probably benign Het
Or5d46 G A 2: 88,170,586 (GRCm39) V226I probably benign Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Pcdhb13 T G 18: 37,577,828 (GRCm39) H735Q probably benign Het
Pcdhb7 A T 18: 37,474,959 (GRCm39) M32L probably benign Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Per2 C T 1: 91,355,671 (GRCm39) E696K probably damaging Het
Pld4 T C 12: 112,731,485 (GRCm39) S213P probably damaging Het
Prkg1 T A 19: 30,970,484 (GRCm39) H209L probably benign Het
Psg16 T C 7: 16,824,321 (GRCm39) L35P probably damaging Het
Pxn C T 5: 115,689,955 (GRCm39) L160F probably benign Het
Rab3a A G 8: 71,209,095 (GRCm39) D77G probably damaging Het
Resf1 T A 6: 149,229,376 (GRCm39) N807K probably damaging Het
Rgma A T 7: 73,067,068 (GRCm39) T108S probably damaging Het
Rxrg A G 1: 167,441,374 (GRCm39) S51G probably benign Het
S1pr3 A T 13: 51,573,475 (GRCm39) I219F probably damaging Het
Sec23b A T 2: 144,401,109 (GRCm39) probably null Het
Sfrp5 G T 19: 42,190,266 (GRCm39) T62K probably benign Het
Slco1a6 T A 6: 142,048,826 (GRCm39) Y318F probably damaging Het
Slit1 A C 19: 41,603,309 (GRCm39) S931A possibly damaging Het
Sorl1 A T 9: 41,982,497 (GRCm39) V361E probably damaging Het
St6galnac2 A G 11: 116,575,213 (GRCm39) S209P probably benign Het
Supt6 C A 11: 78,122,626 (GRCm39) R199L possibly damaging Het
Tas2r107 A C 6: 131,636,347 (GRCm39) M234R probably benign Het
Tmem72 C G 6: 116,675,310 (GRCm39) V61L probably benign Het
Trpm5 C A 7: 142,623,055 (GRCm39) probably benign Het
Ttn T G 2: 76,550,456 (GRCm39) T23282P probably damaging Het
Ubap2 GCCCGCTTGCCCCGCT GCCCGCTTGCCCCGCTTGCCCCGCT 4: 41,227,210 (GRCm39) probably benign Het
Ubr3 A T 2: 69,786,393 (GRCm39) R836W probably benign Het
Umodl1 A G 17: 31,205,273 (GRCm39) probably null Het
Ythdf1 A G 2: 180,560,926 (GRCm39) probably null Het
Zfp780b T C 7: 27,671,066 (GRCm39) T81A possibly damaging Het
Zfp811 T C 17: 33,016,816 (GRCm39) E407G probably 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
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
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'- ATGAATGCACAAGGTGGCCC -3'
(R):5'- TGTACTTCATGAGCCTGACAGG -3'

Sequencing Primer
(F):5'- CCCCTGGTGGAGGAAGATG -3'
(R):5'- GTCATTTATCCACCGACCAGATGATG -3'
Posted On 2018-07-24