Incidental Mutation 'R6285:Sqstm1'
ID 508192
Institutional Source Beutler Lab
Gene Symbol Sqstm1
Ensembl Gene ENSMUSG00000015837
Gene Name sequestosome 1
Synonyms p62, Osi, A170, OSF-6, STAP
MMRRC Submission 044455-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6285 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50090193-50101654 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 50093418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 327 (Q327*)
Ref Sequence ENSEMBL: ENSMUSP00000099835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015981] [ENSMUST00000020647] [ENSMUST00000102774] [ENSMUST00000136936] [ENSMUST00000143379]
AlphaFold Q64337
Predicted Effect probably null
Transcript: ENSMUST00000015981
AA Change: Q327*
SMART Domains Protein: ENSMUSP00000015981
Gene: ENSMUSG00000015837
AA Change: Q327*

DomainStartEndE-ValueType
PB1 3 102 1.96e-14 SMART
ZnF_ZZ 122 165 8.62e-19 SMART
low complexity region 269 281 N/A INTRINSIC
UBA 358 397 9.33e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000020647
Predicted Effect probably null
Transcript: ENSMUST00000102774
AA Change: Q327*
SMART Domains Protein: ENSMUSP00000099835
Gene: ENSMUSG00000015837
AA Change: Q327*

DomainStartEndE-ValueType
PB1 3 102 1.96e-14 SMART
ZnF_ZZ 122 165 8.62e-19 SMART
low complexity region 269 281 N/A INTRINSIC
UBA 396 435 9.33e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131214
Predicted Effect probably benign
Transcript: ENSMUST00000136936
SMART Domains Protein: ENSMUSP00000120442
Gene: ENSMUSG00000015837

DomainStartEndE-ValueType
UBA 63 102 9.33e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143379
SMART Domains Protein: ENSMUSP00000118662
Gene: ENSMUSG00000015837

DomainStartEndE-ValueType
PB1 3 102 1.96e-14 SMART
ZnF_ZZ 122 165 8.62e-19 SMART
low complexity region 269 281 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154805
Meta Mutation Damage Score 0.9713 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit impaired osteoclastogenesis in response to osteoclastogenic factors. Mice homozygous and heterozygous for a knock-in allele exhibit osteolytic lesion with increased bone formation, mineral apposition rate,and osteoclast numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,136,324 (GRCm39) M370L probably benign Het
Aimp1 A G 3: 132,373,265 (GRCm39) M225T possibly damaging Het
Atp8a1 T C 5: 67,824,950 (GRCm39) I809V possibly damaging Het
Bbs10 A G 10: 111,135,622 (GRCm39) Y245C probably damaging Het
Cabin1 A T 10: 75,520,157 (GRCm39) F1572Y probably damaging Het
Cd79a A G 7: 24,598,772 (GRCm39) N107S possibly damaging Het
Cdc7 G A 5: 107,130,925 (GRCm39) A428T probably benign Het
Cep290 A G 10: 100,359,191 (GRCm39) T974A probably benign Het
Cep350 A T 1: 155,829,120 (GRCm39) N261K possibly damaging Het
Cfap46 T A 7: 139,241,001 (GRCm39) D8V probably damaging Het
Col6a4 T C 9: 105,952,185 (GRCm39) D571G probably damaging Het
Cpe A C 8: 65,070,645 (GRCm39) V200G probably benign Het
Ctnnd1 C T 2: 84,444,231 (GRCm39) probably null Het
D5Ertd579e A C 5: 36,772,921 (GRCm39) C491W probably damaging Het
Dek A G 13: 47,252,856 (GRCm39) I183T probably damaging Het
Dennd1a A T 2: 37,742,453 (GRCm39) H437Q possibly damaging Het
Dido1 C T 2: 180,302,940 (GRCm39) A1655T probably benign Het
Eva1b A G 4: 126,043,278 (GRCm39) D106G probably damaging Het
Evc2 G T 5: 37,581,923 (GRCm39) S1189I possibly damaging Het
Faap100 A T 11: 120,267,558 (GRCm39) L405Q probably damaging Het
Fbxw15 T A 9: 109,386,234 (GRCm39) M249L probably benign Het
Gbp10 A T 5: 105,366,326 (GRCm39) L526Q probably damaging Het
Gm19402 A C 10: 77,526,354 (GRCm39) probably benign Het
Gm2244 A G 14: 19,590,865 (GRCm39) Y141H probably damaging Het
Gm4181 A T 14: 51,870,666 (GRCm39) N98K probably damaging Het
Golga4 C T 9: 118,387,695 (GRCm39) R616* probably null Het
Gpank1 T A 17: 35,343,266 (GRCm39) S226T probably damaging Het
Hipk3 T C 2: 104,301,770 (GRCm39) M141V probably damaging Het
Hoxc11 T C 15: 102,863,178 (GRCm39) V73A probably benign Het
Igf1r T G 7: 67,653,885 (GRCm39) I141S possibly damaging Het
Jak2 T A 19: 29,273,059 (GRCm39) F628I probably benign Het
Kcp C A 6: 29,502,364 (GRCm39) V227L probably benign Het
Knl1 T G 2: 118,902,422 (GRCm39) C1374W probably damaging Het
Larp6 A T 9: 60,645,043 (GRCm39) R394S probably benign Het
Lilra5 G A 7: 4,245,114 (GRCm39) G253R probably damaging Het
Map3k4 A G 17: 12,482,945 (GRCm39) S591P probably damaging Het
Mdfic2 T C 6: 98,215,134 (GRCm39) D163G probably damaging Het
Minar2 A G 18: 59,205,296 (GRCm39) K28R probably benign Het
Mrpl16 T A 19: 11,750,332 (GRCm39) I72K probably damaging Het
Nol11 C G 11: 107,071,860 (GRCm39) R244S probably benign Het
Nr2f1 T C 13: 78,343,782 (GRCm39) T161A probably benign Het
Nrdc G T 4: 108,895,203 (GRCm39) V476F probably damaging Het
Or10j7 G T 1: 173,011,477 (GRCm39) H175N probably damaging Het
Or10z1 A T 1: 174,078,395 (GRCm39) S33T possibly damaging Het
Or13a22 T A 7: 140,072,626 (GRCm39) L25Q possibly damaging Het
Or13m2-ps1 A T 6: 42,777,843 (GRCm39) H56L probably benign Het
P2rx1 A G 11: 72,898,974 (GRCm39) I62V probably benign Het
Pcdhgc5 A T 18: 37,953,674 (GRCm39) Y316F probably benign Het
Pecam1 T C 11: 106,576,065 (GRCm39) D490G probably benign Het
Pfkfb2 A T 1: 130,635,299 (GRCm39) Y87* probably null Het
Poldip2 A G 11: 78,408,458 (GRCm39) probably null Het
Ppp2r5b T A 19: 6,280,566 (GRCm39) Q304L probably benign Het
Pramel26 A G 4: 143,542,609 (GRCm39) C4R probably damaging Het
Psg26 A G 7: 18,216,753 (GRCm39) F29L probably benign Het
Ptk6 A T 2: 180,838,886 (GRCm39) L289Q probably null Het
Ptprt A T 2: 161,743,417 (GRCm39) I508N possibly damaging Het
Rasgrp4 T C 7: 28,847,808 (GRCm39) F406S probably damaging Het
Rspo3 A G 10: 29,375,926 (GRCm39) probably null Het
Septin8 G T 11: 53,425,594 (GRCm39) probably null Het
Sirt2 A C 7: 28,487,471 (GRCm39) T345P probably benign Het
Slc6a20b T C 9: 123,438,161 (GRCm39) E205G possibly damaging Het
Susd3 T A 13: 49,390,997 (GRCm39) S98C probably damaging Het
Tada2b G A 5: 36,634,186 (GRCm39) R56W probably damaging Het
Tbc1d2 A T 4: 46,615,045 (GRCm39) V546E possibly damaging Het
Tbx6 A G 7: 126,380,740 (GRCm39) Q21R possibly damaging Het
Usp24 T G 4: 106,231,297 (GRCm39) probably null Het
Vinac1 T G 2: 128,879,719 (GRCm39) T736P possibly damaging Het
Vmn2r103 A G 17: 20,032,406 (GRCm39) T727A probably benign Het
Wdr48 C T 9: 119,749,676 (GRCm39) T531M probably damaging Het
Other mutations in Sqstm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1694:Sqstm1 UTSW 11 50,098,307 (GRCm39) missense probably benign 0.00
R2099:Sqstm1 UTSW 11 50,093,811 (GRCm39) missense possibly damaging 0.75
R4448:Sqstm1 UTSW 11 50,093,866 (GRCm39) splice site probably benign
R5577:Sqstm1 UTSW 11 50,098,266 (GRCm39) missense probably benign
R5586:Sqstm1 UTSW 11 50,093,849 (GRCm39) missense probably damaging 1.00
R6042:Sqstm1 UTSW 11 50,098,251 (GRCm39) missense probably benign 0.16
R7111:Sqstm1 UTSW 11 50,093,418 (GRCm39) missense probably benign 0.01
R7702:Sqstm1 UTSW 11 50,096,932 (GRCm39) critical splice acceptor site probably null
R8246:Sqstm1 UTSW 11 50,101,388 (GRCm39) missense probably damaging 0.96
R8733:Sqstm1 UTSW 11 50,101,493 (GRCm39) missense possibly damaging 0.95
R9013:Sqstm1 UTSW 11 50,098,684 (GRCm39) missense probably damaging 1.00
R9339:Sqstm1 UTSW 11 50,091,725 (GRCm39) missense probably benign
X0065:Sqstm1 UTSW 11 50,091,666 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTGGGTATAGGGCAGCTTCC -3'
(R):5'- AGGTCTACTAGCTTCAGCCTG -3'

Sequencing Primer
(F):5'- GTATAGGGCAGCTTCCTTCAGC -3'
(R):5'- TACTAGCTTCAGCCTGAGGAATC -3'
Posted On 2018-03-15