Mutagenetix > Incidental Mutation

Incidental Mutation 'R7111:Sqstm1'

551526

Institutional Source

Beutler Lab

Gene Symbol

Sqstm1

Ensembl Gene

ENSMUSG00000015837

Gene Name

sequestosome 1

Synonyms

p62, Osi, A170, OSF-6, STAP

MMRRC Submission

045203-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7111 (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 50093418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 327 (Q327K)

Ref Sequence

ENSEMBL: ENSMUSP00000099835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015981] [ENSMUST00000020647] [ENSMUST00000102774] [ENSMUST00000136936] [ENSMUST00000143379]

AlphaFold

Q64337

Predicted Effect

probably benign
Transcript: ENSMUST00000015981
AA Change: Q327K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000015981
Gene: ENSMUSG00000015837
AA Change: Q327K

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

probably benign
Transcript: ENSMUST00000020647

Predicted Effect

probably benign
Transcript: ENSMUST00000102774
AA Change: Q327K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099835
Gene: ENSMUSG00000015837
AA Change: Q327K

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

probably benign
Transcript: ENSMUST00000136936

SMART Domains

Protein: ENSMUSP00000120442
Gene: ENSMUSG00000015837

Domain	Start	End	E-Value	Type
UBA	63	102	9.33e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143379

SMART Domains

Protein: ENSMUSP00000118662
Gene: ENSMUSG00000015837

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

Meta Mutation Damage Score

0.2436

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	G	19: 57,062,309 (GRCm39)	N384T	probably benign	Het
Agap3	A	G	5: 24,706,396 (GRCm39)	Y843C	probably damaging	Het
Aldh9a1	T	A	1: 167,182,021 (GRCm39)	V118E	probably benign	Het
Arhgef26	T	A	3: 62,252,689 (GRCm39)	S414T	possibly damaging	Het
Armc9	T	C	1: 86,087,717 (GRCm39)	Y18H	probably damaging	Het
Bod1l	A	G	5: 41,970,463 (GRCm39)		probably null	Het
Casp1	A	T	9: 5,299,816 (GRCm39)	E96D	probably benign	Het
Ccdc171	A	G	4: 83,611,998 (GRCm39)	I898V	probably benign	Het
Cd79b	T	C	11: 106,205,365 (GRCm39)	I42M	possibly damaging	Het
Cdca7	G	A	2: 72,315,575 (GRCm39)	R346H	probably damaging	Het
Cdh20	T	C	1: 110,065,638 (GRCm39)	S176P		Het
Cdh23	T	A	10: 60,222,823 (GRCm39)	D1200V	probably damaging	Het
Cdkn1c	T	C	7: 143,014,326 (GRCm39)	D40G	possibly damaging	Het
Ckap5	G	A	2: 91,437,917 (GRCm39)	R1666H	probably damaging	Het
Cxcl1	A	G	5: 91,039,182 (GRCm39)	T5A	unknown	Het
Dnah2	A	C	11: 69,337,579 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,803,028 (GRCm39)	I54M	probably damaging	Het
Ephb3	A	T	16: 21,037,577 (GRCm39)	K500*	probably null	Het
Fam13c	T	A	10: 70,390,336 (GRCm39)	H533Q	probably benign	Het
Fat4	T	A	3: 39,064,682 (GRCm39)	D4879E	probably damaging	Het
Grk6	G	T	13: 55,606,733 (GRCm39)	W511L	probably damaging	Het
Hivep3	G	C	4: 119,952,431 (GRCm39)	S249T	possibly damaging	Het
Iqch	T	A	9: 63,419,599 (GRCm39)	Y496F	possibly damaging	Het
Itga2	T	C	13: 115,037,066 (GRCm39)	I21V	unknown	Het
Itpr2	A	T	6: 146,226,554 (GRCm39)	C1397S	probably damaging	Het
Krt86	A	T	15: 101,374,498 (GRCm39)	Y297F	possibly damaging	Het
Limch1	G	T	5: 67,182,519 (GRCm39)		probably null	Het
Mfsd6	G	T	1: 52,748,917 (GRCm39)		probably null	Het
Mx1	A	G	16: 97,256,376 (GRCm39)	V181A	probably damaging	Het
Nme8	G	A	13: 19,859,817 (GRCm39)	R268W	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or10p1	T	A	10: 129,443,829 (GRCm39)	I174F	possibly damaging	Het
Or5d36	G	A	2: 87,901,000 (GRCm39)	T242I	probably damaging	Het
Pappa2	T	A	1: 158,784,096 (GRCm39)	I305F	probably benign	Het
Pdlim3	A	G	8: 46,370,539 (GRCm39)	K232E	probably damaging	Het
Rcn1	T	C	2: 105,219,359 (GRCm39)	E278G	probably damaging	Het
Ros1	T	C	10: 52,057,906 (GRCm39)	D47G	probably benign	Het
Sema4c	G	A	1: 36,592,160 (GRCm39)	T229M	possibly damaging	Het
Serpina3j	T	A	12: 104,283,792 (GRCm39)	W297R	probably damaging	Het
Serpinb11	A	G	1: 107,304,614 (GRCm39)	E193G	probably benign	Het
Shank2	A	G	7: 143,965,289 (GRCm39)	I966V	probably benign	Het
Siglece	T	C	7: 43,309,327 (GRCm39)	D77G	probably damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Styxl2	T	C	1: 165,954,723 (GRCm39)	E9G	possibly damaging	Het
Svep1	A	T	4: 58,118,207 (GRCm39)	D838E	possibly damaging	Het
Tacc2	G	A	7: 130,330,618 (GRCm39)	A191T	probably benign	Het
Tnfrsf18	T	A	4: 156,113,168 (GRCm39)	W285R	probably damaging	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Uaca	C	T	9: 60,779,120 (GRCm39)	T1169I	probably benign	Het
Umod	G	T	7: 119,076,369 (GRCm39)	Y132*	probably null	Het
Vmn2r31	A	G	7: 7,399,480 (GRCm39)	F159S	probably damaging	Het
Vmn2r82	C	T	10: 79,214,605 (GRCm39)	T196I	probably benign	Het
Wrap53	A	T	11: 69,453,305 (GRCm39)	W379R	probably damaging	Het
Zfp866	A	T	8: 70,219,221 (GRCm39)	V133D	probably benign	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
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'- ATAGGGCAGCTTCCTTCAGC -3'
(R):5'- AGCCAGAGGTAGGTCTACTAG -3'

Sequencing Primer
(F):5'- TTCAGCCCTGTGGGTCC -3'
(R):5'- TACTAGCTTCAGCCTGAGGAATC -3'

Posted On

2019-05-15