Mutagenetix > Incidental Mutation

Incidental Mutation 'R7159:Stub1'

557538

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

045259-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26049608-26051893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26051038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 115 (I115V)

Ref Sequence

ENSEMBL: ENSMUSP00000040431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026831] [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [ENSMUST00000123582] [ENSMUST00000133595] [ENSMUST00000183929] [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 benign
Transcript: ENSMUST00000044911
AA Change: I115V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000040431
Gene: ENSMUSG00000039615
AA Change: I115V

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

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

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: 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: ENSMUST00000176751

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: ENSMUST00000184865

Meta Mutation Damage Score

0.1466

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,380,327 (GRCm39)	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,575,970 (GRCm39)	S401P	probably benign	Het
Arfgef2	T	A	2: 166,668,848 (GRCm39)	D41E	probably benign	Het
Arid1a	T	C	4: 133,480,879 (GRCm39)	N15S	unknown	Het
Arsa	A	T	15: 89,358,921 (GRCm39)		probably null	Het
B3gnt9	C	A	8: 105,981,064 (GRCm39)	C108F	probably damaging	Het
Bbc3	C	A	7: 16,047,733 (GRCm39)	Y152*	probably null	Het
Btbd1	T	C	7: 81,467,957 (GRCm39)	M188V	probably benign	Het
Caln1	C	T	5: 130,851,838 (GRCm39)	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763 (GRCm39)	P266S	possibly damaging	Het
Ccm2l	A	T	2: 152,912,787 (GRCm39)	I109F	probably damaging	Het
Chst15	A	C	7: 131,871,987 (GRCm39)	L98R	probably damaging	Het
Ctsq	A	G	13: 61,186,737 (GRCm39)	M89T	probably benign	Het
Ddx39b	T	C	17: 35,465,986 (GRCm39)	V169A	probably benign	Het
Fhad1	T	C	4: 141,678,927 (GRCm39)	H583R	probably benign	Het
Fndc1	T	A	17: 8,019,763 (GRCm39)	I139F	probably damaging	Het
Gm7145	C	G	1: 117,913,561 (GRCm39)	H148D	probably benign	Het
Gpr62	C	A	9: 106,342,641 (GRCm39)	A96S	probably damaging	Het
Gsap	T	A	5: 21,475,618 (GRCm39)		probably null	Het
Hdhd5	T	A	6: 120,500,432 (GRCm39)	T89S	probably damaging	Het
Kcna5	T	A	6: 126,510,592 (GRCm39)	Y512F	probably damaging	Het
Krt84	C	A	15: 101,438,044 (GRCm39)	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrp6	C	A	6: 134,484,514 (GRCm39)	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,490,144 (GRCm39)	G167D	probably damaging	Het
Man2b1	C	T	8: 85,813,909 (GRCm39)	T291M	probably benign	Het
Mapkbp1	A	G	2: 119,855,613 (GRCm39)	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,183,438 (GRCm39)	T1947A	probably benign	Het
Myh15	A	T	16: 48,881,937 (GRCm39)	T60S	probably damaging	Het
Myo5a	A	T	9: 75,078,845 (GRCm39)	I868F	probably benign	Het
Myom3	A	T	4: 135,536,162 (GRCm39)	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677 (GRCm39)		probably null	Het
Ncam2	G	T	16: 81,287,262 (GRCm39)	S392I	probably damaging	Het
Nrg3	A	C	14: 38,092,692 (GRCm39)	L647*	probably null	Het
Or10j7	A	T	1: 173,011,890 (GRCm39)	L37Q	possibly damaging	Het
Or2t35	T	C	14: 14,407,251 (GRCm38)	S8P	possibly damaging	Het
Or2y1g	A	T	11: 49,171,185 (GRCm39)	D70V	probably damaging	Het
Or8j3c	T	A	2: 86,253,956 (GRCm39)		probably null	Het
Pcdhb9	A	G	18: 37,534,545 (GRCm39)	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,819,972 (GRCm39)	N507S	probably damaging	Het
Pdilt	A	G	7: 119,087,174 (GRCm39)	V492A	probably benign	Het
Phf12	A	G	11: 77,914,366 (GRCm39)	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,254,928 (GRCm39)	I174F	probably benign	Het
Polq	A	T	16: 36,883,215 (GRCm39)	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 78,282,393 (GRCm39)	F97L	probably benign	Het
Prpsap1	T	C	11: 116,384,870 (GRCm39)	E13G	probably benign	Het
Ptpru	A	G	4: 131,546,851 (GRCm39)	L280P	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rc3h2	T	C	2: 37,299,659 (GRCm39)	S124G	probably benign	Het
Rdh5	A	G	10: 128,754,184 (GRCm39)	I83T	possibly damaging	Het
Rigi	A	G	4: 40,213,804 (GRCm39)	V618A	probably benign	Het
Ryr2	T	G	13: 11,825,794 (GRCm39)	R561S	probably damaging	Het
Scara3	A	G	14: 66,158,229 (GRCm39)	L593P	probably damaging	Het
Scfd2	T	C	5: 74,692,004 (GRCm39)	I93V	probably benign	Het
Sema4f	C	A	6: 82,894,864 (GRCm39)	V444L	possibly damaging	Het
Slco1a7	T	A	6: 141,719,504 (GRCm39)	M1L	probably damaging	Het
Spata33	T	C	8: 123,941,134 (GRCm39)	L61P	unknown	Het
Stard10	A	T	7: 100,992,343 (GRCm39)		probably null	Het
Tlcd3b	T	C	7: 126,426,667 (GRCm39)	F80S	probably damaging	Het
Tmem247	C	T	17: 87,225,710 (GRCm39)	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,771,223 (GRCm39)	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,466,526 (GRCm39)	Y245C	probably benign	Het
Trip13	T	C	13: 74,068,130 (GRCm39)	I284V	probably benign	Het
Trpm4	T	C	7: 44,976,692 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,740,092 (GRCm39)	L3528F	unknown	Het
Ttn	A	G	2: 76,560,918 (GRCm39)	L29161S	probably damaging	Het
Ube2v2	G	A	16: 15,398,948 (GRCm39)	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,302,733 (GRCm39)	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,236,829 (GRCm39)	F526Y	probably damaging	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
R1553:Stub1	UTSW	17	26,051,097 (GRCm39)	missense	probably damaging	1.00
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
R7726:Stub1	UTSW	17	26,050,106 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTCTTCTTAGCAATGCGAAGG -3'
(R):5'- CTGAGCCCACACTCTTTGAC -3'

Sequencing Primer
(F):5'- GGGCACTAGGAATATCATCCC -3'
(R):5'- AGACTCGGAACCCACTTGTG -3'

Posted On

2019-06-26