Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00553:Stau1'

6963

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stau1

Ensembl Gene

ENSMUSG00000039536

Gene Name

staufen double-stranded RNA binding protein 1

Synonyms

5830401L18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00553

Quality Score

Status

Chromosome

Chromosomal Location

166789469-166838219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166793254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 294 (K294E)

Ref Sequence

ENSEMBL: ENSMUSP00000139039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002790] [ENSMUST00000049412] [ENSMUST00000109235] [ENSMUST00000109236] [ENSMUST00000109238] [ENSMUST00000184390]

AlphaFold

Q9Z108

Predicted Effect

probably benign
Transcript: ENSMUST00000002790

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	526	9.2e-169	PFAM
Pfam:CAS_CSE1	527	962	1.1e-181	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049412
AA Change: K288E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042626
Gene: ENSMUSG00000039536
AA Change: K288E

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	5e-21	BLAST
DSRM	97	162	9.49e-21	SMART
DSRM	199	265	5.54e-22	SMART
PDB:4DKK\|A	355	469	2e-69	PDB
Blast:DSRM	401	466	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109235
AA Change: K288E

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104858
Gene: ENSMUSG00000039536
AA Change: K288E

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	5e-21	BLAST
DSRM	97	162	9.49e-21	SMART
DSRM	199	265	5.54e-22	SMART
PDB:4DKK\|A	355	469	3e-69	PDB
Blast:DSRM	401	466	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109236
AA Change: K286E

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104859
Gene: ENSMUSG00000039536
AA Change: K286E

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	4e-21	BLAST
DSRM	97	162	9.49e-21	SMART
DSRM	197	263	5.54e-22	SMART
PDB:4DKK\|A	353	467	3e-69	PDB
Blast:DSRM	399	464	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109238
AA Change: K294E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104861
Gene: ENSMUSG00000039536
AA Change: K294E

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	5e-21	BLAST
DSRM	97	168	4.04e-15	SMART
DSRM	205	271	5.54e-22	SMART
Pfam:Staufen_C	364	475	5.9e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134664

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184390
AA Change: K294E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139039
Gene: ENSMUSG00000039536
AA Change: K294E

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	4e-21	BLAST
DSRM	97	168	4.04e-15	SMART
DSRM	205	271	5.54e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142481

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit hypoactivity and impaired dendrite outgrowth and spine formation. [provided by MGI curators]

Allele List at MGI

All alleles(55) : Targeted, other(1) Gene trapped(54)

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	A	G	15: 89,457,453 (GRCm39)	I234V	probably benign	Het
Arid4a	T	C	12: 71,122,751 (GRCm39)	L1044P	probably benign	Het
Bcl9	A	T	3: 97,114,518 (GRCm39)	D1035E	probably damaging	Het
Bptf	G	A	11: 106,946,105 (GRCm39)	T2263I	possibly damaging	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Glipr1	T	C	10: 111,822,574 (GRCm39)	N47S	possibly damaging	Het
Ifi35	A	G	11: 101,348,152 (GRCm39)	E86G	probably damaging	Het
Mx1	T	A	16: 97,258,632 (GRCm39)	I22F	probably damaging	Het
Nr2f1	A	G	13: 78,346,361 (GRCm39)	V111A	probably damaging	Het
Pdgfrb	A	T	18: 61,202,008 (GRCm39)	E524V	probably benign	Het
Rspo3	A	G	10: 29,330,148 (GRCm39)		probably benign	Het
Setdb2	C	T	14: 59,653,241 (GRCm39)	V354M	probably damaging	Het
Slc28a3	A	G	13: 58,710,823 (GRCm39)		probably null	Het
Susd3	A	T	13: 49,384,614 (GRCm39)	*270R	probably null	Het
Ttc39b	T	C	4: 83,162,276 (GRCm39)		probably benign	Het
Usf1	T	C	1: 171,244,843 (GRCm39)	V169A	probably damaging	Het
Usp8	T	C	2: 126,600,480 (GRCm39)	L1077P	probably damaging	Het
Vsnl1	A	G	12: 11,382,190 (GRCm39)	F64L	probably damaging	Het
Zmiz1	T	A	14: 25,572,494 (GRCm39)	M1K	probably null	Het

Other mutations in Stau1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Stau1	APN	2	166,792,729 (GRCm39)	missense	probably benign	0.03
IGL00531:Stau1	APN	2	166,806,542 (GRCm39)	missense	probably benign	0.00
IGL02311:Stau1	APN	2	166,792,239 (GRCm39)	missense	probably damaging	1.00
IGL02558:Stau1	APN	2	166,792,768 (GRCm39)	missense	probably benign	0.10
IGL02746:Stau1	APN	2	166,796,818 (GRCm39)	critical splice donor site	probably null
IGL02797:Stau1	APN	2	166,791,266 (GRCm39)	makesense	probably null
IGL03308:Stau1	APN	2	166,792,240 (GRCm39)	missense	probably damaging	1.00
D4216:Stau1	UTSW	2	166,791,670 (GRCm39)	missense	probably benign
R0614:Stau1	UTSW	2	166,792,726 (GRCm39)	missense	probably damaging	1.00
R1036:Stau1	UTSW	2	166,793,235 (GRCm39)	missense	probably damaging	0.96
R2935:Stau1	UTSW	2	166,797,037 (GRCm39)	missense	probably benign	0.00
R3078:Stau1	UTSW	2	166,796,936 (GRCm39)	missense	possibly damaging	0.68
R4542:Stau1	UTSW	2	166,795,181 (GRCm39)	missense	probably damaging	1.00
R4778:Stau1	UTSW	2	166,805,442 (GRCm39)	missense	probably benign	0.00
R6397:Stau1	UTSW	2	166,792,927 (GRCm39)	missense	possibly damaging	0.83
R7208:Stau1	UTSW	2	166,805,494 (GRCm39)	missense	probably damaging	0.98
R7870:Stau1	UTSW	2	166,792,870 (GRCm39)	missense	possibly damaging	0.89
R7877:Stau1	UTSW	2	166,792,787 (GRCm39)	missense	possibly damaging	0.95
R8844:Stau1	UTSW	2	166,793,266 (GRCm39)	missense	probably benign	0.00
R9174:Stau1	UTSW	2	166,791,269 (GRCm39)	missense	probably damaging	0.99
R9353:Stau1	UTSW	2	166,792,267 (GRCm39)	missense	probably damaging	1.00
R9410:Stau1	UTSW	2	166,797,038 (GRCm39)	missense	probably benign
R9784:Stau1	UTSW	2	166,791,695 (GRCm39)	missense	probably benign	0.01

Posted On

2012-04-20