Mutagenetix > Incidental Mutation

Incidental Mutation 'R1553:Stub1'

170118

Institutional Source

Beutler Lab

Gene Symbol

Stub1

Ensembl Gene

ENSMUSG00000039615

Gene Name

STIP1 homology and U-Box containing protein 1

Synonyms

2210017D18Rik, 2310040B03Rik, 0610033N24Rik, CHIP

MMRRC Submission

039592-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R1553 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

26049608-26051893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26051097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 95 (V95E)

Ref Sequence

ENSEMBL: ENSMUSP00000040431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026831] [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [ENSMUST00000123582] [ENSMUST00000183929] [ENSMUST00000133595] [ENSMUST00000184865]

AlphaFold

Q9WUD1

PDB Structure

CRYSTAL STRUCTURE OF THE CHIP U-BOX E3 UBIQUITIN LIGASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE CHIP-UBC13-UEV1A COMPLEX [X-RAY DIFFRACTION]
Crystal structure of TPR domain of CHIP complexed with pseudophosphorylated Smad1 peptide [X-RAY DIFFRACTION]
Crystal structure of the TPR domain of CHIP complexed with Hsp70-C peptide [X-RAY DIFFRACTION]
Crystal structure of the TPR domain of CHIP complexed with phosphorylated Smad1 peptide [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000026831

SMART Domains

Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735

Domain	Start	End	E-Value	Type
SCOP:d2mysb_	13	74	5e-7	SMART
Blast:EFh	43	71	9e-11	BLAST
transmembrane domain	129	151	N/A	INTRINSIC
Pfam:Rhomboid	174	331	6.7e-36	PFAM
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026832

SMART Domains

Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
JmjC	140	271	5.27e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026833

SMART Domains

Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737

Domain	Start	End	E-Value	Type
Blast:WD40	19	53	6e-8	BLAST
WD40	68	103	2.13e1	SMART
WD40	109	149	5.77e-5	SMART
WD40	152	192	4.48e-2	SMART
WD40	196	236	1.48e-11	SMART
WD40	244	282	1.66e0	SMART
WD40	286	327	2.48e0	SMART
low complexity region	605	623	N/A	INTRINSIC
Blast:RING	743	780	2e-7	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000044911
AA Change: V95E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040431
Gene: ENSMUSG00000039615
AA Change: V95E

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
TPR	27	60	2.43e1	SMART
TPR	61	94	1.48e-7	SMART
TPR	95	128	4.52e-3	SMART
low complexity region	168	180	N/A	INTRINSIC
Ubox	231	294	1.27e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123560

Predicted Effect

probably benign
Transcript: ENSMUST00000123582

SMART Domains

Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
low complexity region	158	172	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144589

Predicted Effect

probably benign
Transcript: ENSMUST00000183929

SMART Domains

Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735

Domain	Start	End	E-Value	Type
SCOP:d2mysb_	13	74	9e-6	SMART
Blast:EFh	43	70	2e-9	BLAST
transmembrane domain	136	155	N/A	INTRINSIC
Pfam:Rhomboid	178	327	1e-27	PFAM
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152434

SMART Domains

Protein: ENSMUSP00000119378
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133595

SMART Domains

Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
transmembrane domain	55	74	N/A	INTRINSIC
JmjC	185	316	5.27e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176751

Predicted Effect

probably benign
Transcript: ENSMUST00000184865

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygous null mice develop normally but are susceptible to stress-induced apoptosis of multiple organs. Increased peri- and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	G	T	5: 24,613,748 (GRCm39)	A649S	probably damaging	Het
Adam6a	T	A	12: 113,508,835 (GRCm39)	C403S	probably damaging	Het
Adgrg3	T	C	8: 95,766,896 (GRCm39)	F417S	possibly damaging	Het
Ago1	T	C	4: 126,334,194 (GRCm39)	E439G	probably damaging	Het
Alox15	A	G	11: 70,240,458 (GRCm39)	V241A	possibly damaging	Het
Arhgap6	A	G	X: 168,048,480 (GRCm39)	H566R	probably damaging	Het
Asap1	A	T	15: 64,024,701 (GRCm39)	F345I	probably benign	Het
Atp1b2	A	G	11: 69,493,678 (GRCm39)	Y134H	probably damaging	Het
Atp8b3	G	A	10: 80,368,376 (GRCm39)	T199M	probably damaging	Het
Calb1	A	T	4: 15,895,656 (GRCm39)	S115C	probably damaging	Het
Ccdc68	A	T	18: 70,073,192 (GRCm39)	I47F	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,540 (GRCm39)	N560I	probably benign	Het
Cdhr3	T	C	12: 33,092,370 (GRCm39)	D747G	probably benign	Het
Cdk5rap1	T	G	2: 154,194,171 (GRCm39)	N378T	probably damaging	Het
Chil4	T	G	3: 106,111,006 (GRCm39)	N296T	probably benign	Het
Cryaa	G	A	17: 31,898,533 (GRCm39)	V87I	probably damaging	Het
Csk	G	A	9: 57,538,225 (GRCm39)	L28F	probably damaging	Het
Cspp1	A	G	1: 10,156,122 (GRCm39)	N444D	possibly damaging	Het
Cyp2j8	A	G	4: 96,363,794 (GRCm39)	Y290H	probably benign	Het
Eps8l1	A	T	7: 4,480,448 (GRCm39)	D563V	probably damaging	Het
Fam111a	A	T	19: 12,564,682 (GRCm39)	S144C	possibly damaging	Het
Fam135a	A	T	1: 24,060,951 (GRCm39)	S1145R	probably damaging	Het
Fpr2	T	A	17: 18,113,856 (GRCm39)	V284D	possibly damaging	Het
Furin	A	G	7: 80,048,340 (GRCm39)		probably null	Het
Gatd1	T	C	7: 140,989,806 (GRCm39)	T135A	probably benign	Het
Gdf3	A	G	6: 122,586,724 (GRCm39)	S68P	probably benign	Het
Gm6871	T	C	7: 41,195,822 (GRCm39)	H305R	probably benign	Het
Grip1	A	G	10: 119,890,756 (GRCm39)	S917G	probably damaging	Het
Hdac10	T	A	15: 89,009,718 (GRCm39)	E388V	possibly damaging	Het
Hectd1	T	C	12: 51,820,661 (GRCm39)	N1176S	probably damaging	Het
Hectd4	A	G	5: 121,487,322 (GRCm39)	D3439G	probably benign	Het
Kcna4	T	C	2: 107,127,032 (GRCm39)	Y589H	probably benign	Het
Kcnk5	A	T	14: 20,192,462 (GRCm39)	L233Q	probably damaging	Het
Kcnt1	T	C	2: 25,790,397 (GRCm39)	I453T	probably damaging	Het
Kifc3	A	G	8: 95,833,170 (GRCm39)	I440T	possibly damaging	Het
Krt10	C	A	11: 99,276,806 (GRCm39)	G40*	probably null	Het
Lce1i	A	T	3: 92,685,102 (GRCm39)	C25S	unknown	Het
Met	A	G	6: 17,491,460 (GRCm39)	N74S	probably benign	Het
Naa35	G	A	13: 59,766,093 (GRCm39)		probably null	Het
Naalad2	T	C	9: 18,289,965 (GRCm39)	N221S	probably benign	Het
Nolc1	AGCG	AGCGGCG	19: 46,069,814 (GRCm39)		probably benign	Het
Nsmf	T	C	2: 24,950,271 (GRCm39)	V181A	probably damaging	Het
Nwd2	T	A	5: 63,957,848 (GRCm39)	S393T	probably benign	Het
Or12j3	T	A	7: 139,952,951 (GRCm39)	T191S	probably damaging	Het
Or2d3c	A	T	7: 106,526,201 (GRCm39)	V155E	possibly damaging	Het
Or51a6	T	A	7: 102,604,425 (GRCm39)	I128L	possibly damaging	Het
Papola	T	A	12: 105,786,669 (GRCm39)	S453R	probably benign	Het
Paqr9	A	G	9: 95,442,262 (GRCm39)	N84S	probably damaging	Het
Pde5a	T	C	3: 122,572,585 (GRCm39)	V290A	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Psg18	T	C	7: 18,087,406 (GRCm39)	Y84C	probably benign	Het
Rasgrf2	C	T	13: 92,038,783 (GRCm39)	R1021H	probably damaging	Het
Rnf114	G	T	2: 167,354,522 (GRCm39)	R201L	possibly damaging	Het
Rp1l1	A	G	14: 64,269,343 (GRCm39)	E1643G	probably benign	Het
Scg3	T	A	9: 75,576,586 (GRCm39)	E263V	probably null	Het
Scn2a	C	T	2: 65,544,180 (GRCm39)	R854*	probably null	Het
Setdb2	T	C	14: 59,654,934 (GRCm39)	K319E	probably benign	Het
Tas2r140	T	A	6: 133,032,471 (GRCm39)	N96Y	probably damaging	Het
Tecta	T	A	9: 42,259,482 (GRCm39)	D1467V	probably damaging	Het
Tenm3	T	A	8: 48,689,456 (GRCm39)	T2044S	probably damaging	Het
Tlr2	T	A	3: 83,744,770 (GRCm39)	M438L	probably benign	Het
Tmem179	T	C	12: 112,471,094 (GRCm39)	Y106C	probably benign	Het
Tspan7	A	G	X: 10,451,854 (GRCm39)	H187R	probably benign	Het
Ttn	T	C	2: 76,757,619 (GRCm39)	D3332G	probably damaging	Het
Upp2	T	C	2: 58,680,152 (GRCm39)	F326S	probably damaging	Het
Usp2	T	A	9: 44,003,452 (GRCm39)	D224E	probably damaging	Het
Vmn1r5	T	A	6: 56,962,483 (GRCm39)	F53I	probably benign	Het
Wapl	T	A	14: 34,451,147 (GRCm39)	L727H	probably damaging	Het
Wipf1	T	C	2: 73,267,870 (GRCm39)	D176G	possibly damaging	Het
Xpnpep1	G	T	19: 52,994,769 (GRCm39)	D243E	probably benign	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	possibly damaging	Het
Zfyve26	G	A	12: 79,334,535 (GRCm39)	P161L	probably benign	Het

Other mutations in Stub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0619:Stub1	UTSW	17	26,050,296 (GRCm39)	splice site	probably null
R2095:Stub1	UTSW	17	26,049,864 (GRCm39)	missense	probably damaging	1.00
R3889:Stub1	UTSW	17	26,050,276 (GRCm39)	unclassified	probably benign
R4626:Stub1	UTSW	17	26,050,845 (GRCm39)	splice site	probably null
R5070:Stub1	UTSW	17	26,051,112 (GRCm39)	missense	probably damaging	1.00
R6223:Stub1	UTSW	17	26,051,787 (GRCm39)	missense	probably damaging	1.00
R7159:Stub1	UTSW	17	26,051,038 (GRCm39)	missense	probably benign	0.13
R7726:Stub1	UTSW	17	26,050,106 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCTGGTGAGATATGAATGCAGC -3'
(R):5'- TCAACTGAGCCCACACTCTTTGAC -3'

Sequencing Primer
(F):5'- ATCCCCAAAGTTGAGTCGCTG -3'
(R):5'- ACACTCTTTGACGCCTGG -3'

Posted On

2014-04-13