Incidental Mutation 'R5577:Sqstm1'
ID 437265
Institutional Source Beutler Lab
Gene Symbol Sqstm1
Ensembl Gene ENSMUSG00000015837
Gene Name sequestosome 1
Synonyms p62, Osi, A170, OSF-6, STAP
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5577 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50090193-50101654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50098266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 167 (I167V)
Ref Sequence ENSEMBL: ENSMUSP00000118662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015981] [ENSMUST00000102774] [ENSMUST00000136936] [ENSMUST00000143379] [ENSMUST00000147468]
AlphaFold Q64337
Predicted Effect probably benign
Transcript: ENSMUST00000015981
AA Change: I167V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015981
Gene: ENSMUSG00000015837
AA Change: I167V

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: ENSMUST00000102774
AA Change: I167V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099835
Gene: ENSMUSG00000015837
AA Change: I167V

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
AA Change: I167V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118662
Gene: ENSMUSG00000015837
AA Change: I167V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154805
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q 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
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'- GCCAAAGTGTCCATGTTTCAG -3'
(R):5'- GACTCTCCCTGCAGAGAAGAAG -3'

Sequencing Primer
(F):5'- AAAGTGTCCATGTTTCAGCTTCCG -3'
(R):5'- CTCCCTGCAGAGAAGAAGGAGTG -3'
Posted On 2016-10-26