Incidental Mutation 'R4448:Sqstm1'
ID 328848
Institutional Source Beutler Lab
Gene Symbol Sqstm1
Ensembl Gene ENSMUSG00000015837
Gene Name sequestosome 1
Synonyms p62, Osi, A170, OSF-6, STAP
MMRRC Submission 041709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4448 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50090193-50101654 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 50093866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015981] [ENSMUST00000020647] [ENSMUST00000102774] [ENSMUST00000136936] [ENSMUST00000143379]
AlphaFold Q64337
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000020647
Predicted Effect probably benign
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 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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 94% (49/52)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
A1cf A T 19: 31,923,262 (GRCm39) T513S probably benign Het
Acaca A T 11: 84,153,318 (GRCm39) I909F probably damaging Het
Adgb T C 10: 10,266,569 (GRCm39) I980V probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Asb8 A G 15: 98,039,211 (GRCm39) V63A possibly damaging Het
Atp6v1b2 T A 8: 69,554,674 (GRCm39) D126E probably benign Het
BC048562 T A 9: 108,315,723 (GRCm39) L43Q probably damaging Het
Ctcf A T 8: 106,406,925 (GRCm39) probably benign Het
Efs A G 14: 55,157,649 (GRCm39) S128P probably damaging Het
Epg5 T A 18: 78,005,676 (GRCm39) M722K probably damaging Het
Ezr T C 17: 7,020,473 (GRCm39) I203V probably benign Het
F5 A T 1: 164,026,468 (GRCm39) N1680I possibly damaging Het
Fcna A G 2: 25,515,488 (GRCm39) F194L probably damaging Het
Fut7 A G 2: 25,314,951 (GRCm39) T70A probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gpr4 G A 7: 18,956,926 (GRCm39) A283T probably damaging Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Hhip C T 8: 80,770,574 (GRCm39) probably null Het
Hoxc12 A G 15: 102,846,911 (GRCm39) K268E probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Kansl1l A G 1: 66,777,318 (GRCm39) S605P probably damaging Het
Kcnh4 A G 11: 100,646,733 (GRCm39) F198L probably benign Het
Kmt2e T C 5: 23,669,788 (GRCm39) F92L possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mycbp2 T C 14: 103,425,938 (GRCm39) I2396V possibly damaging Het
Nckap5 G A 1: 125,953,463 (GRCm39) Q1030* probably null Het
Pag1 T C 3: 9,764,526 (GRCm39) E209G probably benign Het
Pramel30 A C 4: 144,059,255 (GRCm39) H322P probably damaging Het
Pttg1 A T 11: 43,315,517 (GRCm39) probably benign Het
Rab38 T G 7: 88,139,833 (GRCm39) D167E probably benign Het
Rbm26 A T 14: 105,388,986 (GRCm39) F302I probably damaging Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sec23b A G 2: 144,401,171 (GRCm39) N11D probably benign Het
Sipa1l1 G A 12: 82,388,524 (GRCm39) G250D probably benign Het
Sipa1l2 A T 8: 126,219,094 (GRCm39) V81D probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Taf4 A G 2: 179,577,764 (GRCm39) L519P possibly damaging Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Urb1 C T 16: 90,566,282 (GRCm39) V1502I possibly damaging Het
Vmn1r222 A C 13: 23,416,463 (GRCm39) V250G probably benign Het
Vmn1r222 G A 13: 23,416,830 (GRCm39) L128F probably damaging Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown 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
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
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'- TCTGTCAGAGACTGAGCAGG -3'
(R):5'- CACCTAGAGCTATGTGGTTCTG -3'

Sequencing Primer
(F):5'- AGACTGAGCAGGGCCCTC -3'
(R):5'- GTAAGTACACTGTAGCTGTCCTCAG -3'
Posted On 2015-07-21