Incidental Mutation 'R7702:Sqstm1'
ID 594072
Institutional Source Beutler Lab
Gene Symbol Sqstm1
Ensembl Gene ENSMUSG00000015837
Gene Name sequestosome 1
Synonyms p62, Osi, A170, OSF-6, STAP
MMRRC Submission 045763-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7702 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50090193-50101654 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to G at 50096932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015981] [ENSMUST00000102774] [ENSMUST00000136936] [ENSMUST00000143379] [ENSMUST00000147468]
AlphaFold Q64337
Predicted Effect probably null
Transcript: ENSMUST00000015981
SMART Domains Protein: ENSMUSP00000015981
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
UBA 358 397 9.33e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102774
SMART Domains Protein: ENSMUSP00000099835
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
UBA 396 435 9.33e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136936
SMART Domains Protein: ENSMUSP00000120442
Gene: ENSMUSG00000015837

DomainStartEndE-ValueType
UBA 63 102 9.33e-6 SMART
Predicted Effect probably null
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 probably benign
Transcript: ENSMUST00000147468
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,167,278 (GRCm39) probably null Het
AU040320 T A 4: 126,708,166 (GRCm39) S261T probably benign Het
Banp T A 8: 122,705,326 (GRCm39) C65* probably null Het
Bloc1s5 T C 13: 38,787,850 (GRCm39) D178G probably benign Het
Cacna1c A G 6: 118,575,727 (GRCm39) F1941L Het
Ccdc121rt3 T C 5: 112,503,063 (GRCm39) K214E probably benign Het
Cd48 A G 1: 171,523,348 (GRCm39) I64V probably damaging Het
Cela3a A G 4: 137,135,501 (GRCm39) S21P probably benign Het
Cidec A G 6: 113,411,415 (GRCm39) Y12H possibly damaging Het
Col12a1 C G 9: 79,588,803 (GRCm39) R1104T probably damaging Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cux2 T C 5: 122,006,648 (GRCm39) D874G possibly damaging Het
Dbnl C T 11: 5,748,048 (GRCm39) L298F probably benign Het
Dnah1 C A 14: 31,032,866 (GRCm39) V390F probably benign Het
Dnah17 T C 11: 118,012,304 (GRCm39) D486G possibly damaging Het
Dnah17 T C 11: 117,916,466 (GRCm39) I4236V probably benign Het
Dpp6 T A 5: 27,857,274 (GRCm39) D406E probably benign Het
Dsp C T 13: 38,359,183 (GRCm39) A318V possibly damaging Het
Duox1 T C 2: 122,160,120 (GRCm39) L745P possibly damaging Het
Ell C A 8: 70,992,364 (GRCm39) A3E possibly damaging Het
Fer1l5 T A 1: 36,459,775 (GRCm39) L1832* probably null Het
Filip1 G T 9: 79,727,931 (GRCm39) N229K probably benign Het
Flg A T 3: 93,200,089 (GRCm39) H195L unknown Het
Fndc7 G T 3: 108,770,129 (GRCm39) P685H probably damaging Het
Ggt1 A G 10: 75,412,116 (GRCm39) N120S probably benign Het
Gm4952 A T 19: 12,604,428 (GRCm39) H280L probably benign Het
Golim4 A T 3: 75,794,091 (GRCm39) D551E probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hmbs A C 9: 44,248,147 (GRCm39) probably null Het
Ino80 T C 2: 119,273,054 (GRCm39) D474G probably benign Het
Ipo4 A C 14: 55,869,787 (GRCm39) H343Q probably damaging Het
Jade2 C T 11: 51,707,744 (GRCm39) R823H probably damaging Het
Jakmip1 C T 5: 37,274,841 (GRCm39) T453I probably damaging Het
Klk6 T C 7: 43,478,689 (GRCm39) S199P probably damaging Het
Ltn1 A T 16: 87,223,166 (GRCm39) Y105N probably damaging Het
Map3k19 G T 1: 127,756,827 (GRCm39) T394N probably damaging Het
Megf6 G A 4: 154,354,927 (GRCm39) D1445N probably benign Het
Mmp21 A G 7: 133,280,791 (GRCm39) Y60H probably damaging Het
Mylk4 C T 13: 32,904,585 (GRCm39) probably null Het
Nckipsd A T 9: 108,691,216 (GRCm39) R38* probably null Het
Nob1 G A 8: 108,139,737 (GRCm39) R341* probably null Het
Or11g25 A G 14: 50,723,751 (GRCm39) T279A possibly damaging Het
Or1e19 T A 11: 73,324,175 (GRCm39) probably benign Het
Or5ac22 A G 16: 59,134,997 (GRCm39) Y258H probably damaging Het
Pcdh1 A G 18: 38,336,569 (GRCm39) L22P unknown Het
Pebp4 T A 14: 70,297,056 (GRCm39) N198K probably benign Het
Pkp4 T C 2: 59,138,757 (GRCm39) S336P probably damaging Het
Prr5l T A 2: 101,547,442 (GRCm39) D361V probably benign Het
Ralgapa1 C G 12: 55,756,340 (GRCm39) V1086L probably damaging Het
Ralgapa1 T A 12: 55,756,341 (GRCm39) Q1085H probably damaging Het
Ryr2 T C 13: 11,705,219 (GRCm39) N2849S probably damaging Het
Slc6a18 A T 13: 73,820,915 (GRCm39) L223H probably damaging Het
Syne1 T C 10: 5,195,835 (GRCm39) E3945G probably damaging Het
Syne2 A G 12: 76,037,161 (GRCm39) Y3780C probably benign Het
Tecpr1 A G 5: 144,140,236 (GRCm39) Y840H probably damaging Het
Tmem183a T C 1: 134,288,539 (GRCm39) Q108R probably benign Het
Tmtc1 A T 6: 148,345,415 (GRCm39) C95S probably benign Het
Trappc8 C T 18: 20,958,119 (GRCm39) V1250I probably damaging Het
Tshz1 A G 18: 84,032,461 (GRCm39) V649A probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn1r123 A C 7: 20,896,302 (GRCm39) T65P probably damaging Het
Vmn2r63 A T 7: 42,577,553 (GRCm39) H328Q possibly damaging Het
Zeb1 T C 18: 5,766,802 (GRCm39) S438P 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
R6285:Sqstm1 UTSW 11 50,093,418 (GRCm39) nonsense probably null
R7111:Sqstm1 UTSW 11 50,093,418 (GRCm39) missense probably benign 0.01
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'- GACTATTTGCACTTTGAGCCAC -3'
(R):5'- AGAGAGGCCCAACATGTGAC -3'

Sequencing Primer
(F):5'- GCTTTGAGGGCTCAGAATCTCAAAC -3'
(R):5'- CCAACATGTGACCCACTAGG -3'
Posted On 2019-11-12