Mutagenetix > Incidental Mutation

Incidental Mutation 'R8733:Sqstm1'

662873

Institutional Source

Beutler Lab

Gene Symbol

Sqstm1

Ensembl Gene

ENSMUSG00000015837

Gene Name

sequestosome 1

Synonyms

p62, Osi, A170, OSF-6, STAP

MMRRC Submission

068581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8733 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50090193-50101654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50101493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 31 (P31Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015981] [ENSMUST00000102774] [ENSMUST00000143379] [ENSMUST00000147468]

AlphaFold

Q64337

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015981
AA Change: P31Q

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015981
Gene: ENSMUSG00000015837
AA Change: P31Q

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000102774
AA Change: P31Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099835
Gene: ENSMUSG00000015837
AA Change: P31Q

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000143379
AA Change: P31Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118662
Gene: ENSMUSG00000015837
AA Change: P31Q

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,249,627 (GRCm39)	L1106P	probably damaging	Het
Alx3	C	G	3: 107,512,135 (GRCm39)	P258A	probably damaging	Het
Bbs9	A	G	9: 22,582,128 (GRCm39)	T607A	probably benign	Het
Catsperg1	A	T	7: 28,891,111 (GRCm39)	V644E	possibly damaging	Het
Cep85	T	C	4: 133,875,472 (GRCm39)	K499E	possibly damaging	Het
Chd5	A	T	4: 152,463,923 (GRCm39)	H1464L	probably damaging	Het
Chrne	A	G	11: 70,507,856 (GRCm39)	L281P	probably damaging	Het
Col3a1	A	G	1: 45,379,472 (GRCm39)		probably benign	Het
Cpsf4l	A	G	11: 113,600,279 (GRCm39)	F13L	possibly damaging	Het
Dgcr8	T	C	16: 18,077,825 (GRCm39)	I603V	probably benign	Het
Dhx16	A	G	17: 36,192,267 (GRCm39)	D102G	probably benign	Het
Dnm1	G	T	2: 32,206,987 (GRCm39)	D564E	probably benign	Het
Dync1li1	T	A	9: 114,534,178 (GRCm39)	Y93N	probably damaging	Het
Esp31	A	G	17: 38,955,509 (GRCm39)	I51V	probably benign	Het
Grap	G	T	11: 61,562,517 (GRCm39)	A163S	possibly damaging	Het
Hgs	G	A	11: 120,360,954 (GRCm39)		probably null	Het
Icosl	A	T	10: 77,909,697 (GRCm39)	N214I	probably damaging	Het
Ints6	G	A	14: 62,934,297 (GRCm39)	P737S	probably benign	Het
Irag1	C	T	7: 110,477,425 (GRCm39)	V564M	probably benign	Het
Lima1	A	G	15: 99,678,699 (GRCm39)	S581P	probably damaging	Het
Lrfn2	G	A	17: 49,403,824 (GRCm39)	R649H	probably damaging	Het
Muc5b	A	G	7: 141,417,532 (GRCm39)	T3493A	possibly damaging	Het
Mup4	A	T	4: 59,958,587 (GRCm39)	N104K	probably damaging	Het
Nedd4	T	C	9: 72,633,766 (GRCm39)	V424A	possibly damaging	Het
Or10ag55-ps1	A	T	2: 87,115,116 (GRCm39)	I161F	probably benign	Het
Or6c88	T	A	10: 129,406,579 (GRCm39)	D18E	possibly damaging	Het
Or8d23	A	G	9: 38,841,985 (GRCm39)	I173V	probably benign	Het
Otop1	G	A	5: 38,457,117 (GRCm39)	R292H	probably damaging	Het
Otop1	T	A	5: 38,457,796 (GRCm39)	C518*	probably null	Het
Parp3	C	T	9: 106,353,150 (GRCm39)	V9M	probably benign	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pik3c2g	C	T	6: 139,714,426 (GRCm39)	Q311*	probably null	Het
Pkd1l1	A	T	11: 8,883,657 (GRCm39)	V855D		Het
Polr2k	T	A	15: 36,176,913 (GRCm39)	D97E	probably benign	Het
Psmd11	A	G	11: 80,325,342 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,266,683 (GRCm39)	T631M	probably damaging	Het
Ralgps1	C	A	2: 33,174,836 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,024,211 (GRCm39)	S17P	probably damaging	Het
Rcc1	C	A	4: 132,065,515 (GRCm39)	L49F	probably benign	Het
Rgma	T	C	7: 73,059,036 (GRCm39)	S63P	possibly damaging	Het
Scn1a	T	A	2: 66,154,944 (GRCm39)	I672L	probably benign	Het
Sema4c	T	C	1: 36,591,954 (GRCm39)	T270A	probably damaging	Het
Serac1	A	G	17: 6,100,303 (GRCm39)	L479P	probably damaging	Het
Slc22a16	A	G	10: 40,450,061 (GRCm39)	M187V	probably benign	Het
Slc41a3	A	T	6: 90,610,710 (GRCm39)	T191S	possibly damaging	Het
Slu7	G	A	11: 43,334,167 (GRCm39)	V398M	probably damaging	Het
Sphk1	A	G	11: 116,426,451 (GRCm39)	T136A	probably benign	Het
Trappc11	A	T	8: 47,954,883 (GRCm39)	V885D	probably damaging	Het
Trav6-1	T	A	14: 52,876,213 (GRCm39)	Y44*	probably null	Het
Trav9-2	T	A	14: 53,828,755 (GRCm39)	C42S	probably damaging	Het
Zc2hc1a	A	G	3: 7,593,168 (GRCm39)	T194A	probably benign	Het
Zfp729a	A	G	13: 67,769,104 (GRCm39)	V375A	probably damaging	Het

Other mutations in Sqstm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TAGATGTAACCTGAGCGGCC -3'
(R):5'- CCTTTCAAGGGTCCCATCAAGG -3'

Sequencing Primer
(F):5'- GGAGCCAGAGGACACGC -3'
(R):5'- ATCAAGGGGGCTCCAGC -3'

Posted On

2021-03-08