Mutagenetix > Incidental Mutation

Incidental Mutation 'R9784:Stau1'

734190

Institutional Source

Beutler Lab

Gene Symbol

Stau1

Ensembl Gene

ENSMUSG00000039536

Gene Name

staufen double-stranded RNA binding protein 1

Synonyms

5830401L18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9784 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166789469-166838219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166791695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 481 (M481V)

Ref Sequence

ENSEMBL: ENSMUSP00000104861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002790] [ENSMUST00000049412] [ENSMUST00000109235] [ENSMUST00000109236] [ENSMUST00000109238] [ENSMUST00000163437] [ENSMUST00000168599] [ENSMUST00000169290] [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: M475V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000042626
Gene: ENSMUSG00000039536
AA Change: M475V

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: M475V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104858
Gene: ENSMUSG00000039536
AA Change: M475V

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: M473V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104859
Gene: ENSMUSG00000039536
AA Change: M473V

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: M481V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104861
Gene: ENSMUSG00000039536
AA Change: M481V

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

probably benign
Transcript: ENSMUST00000163437

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718

Domain	Start	End	E-Value	Type
Pfam:Cse1	1	237	7.9e-105	PFAM
Pfam:CAS_CSE1	225	649	2.3e-195	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168599

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	256	8.6e-40	PFAM
Pfam:Cse1	255	470	7.3e-99	PFAM
Pfam:CAS_CSE1	471	906	1.3e-201	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169290

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	389	5.2e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184390

SMART Domains

Protein: ENSMUSP00000139039
Gene: ENSMUSG00000039536

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,338,527 (GRCm39)	P495L	possibly damaging	Het
Acly	C	T	11: 100,389,112 (GRCm39)	A557T	probably benign	Het
Adgrl4	A	T	3: 151,214,948 (GRCm39)	T446S	probably damaging	Het
AK157302	A	G	13: 21,679,768 (GRCm39)	E98G	probably damaging	Het
Akap6	A	T	12: 53,187,853 (GRCm39)	T1756S	probably damaging	Het
Aldh1l1	A	G	6: 90,541,424 (GRCm39)	T273A	probably benign	Het
Aldh1l2	T	A	10: 83,342,614 (GRCm39)		probably null	Het
Alox12	T	C	11: 70,143,665 (GRCm39)	E201G	possibly damaging	Het
Arhgef16	A	G	4: 154,371,422 (GRCm39)	V257A	probably damaging	Het
Asxl3	C	T	18: 22,650,311 (GRCm39)	L767F	probably benign	Het
Atxn7l2	T	C	3: 108,110,565 (GRCm39)	K692R	probably null	Het
Btbd2	T	C	10: 80,484,481 (GRCm39)	D145G	probably damaging	Het
Cacna1b	A	T	2: 24,651,801 (GRCm39)	M126K	possibly damaging	Het
Cacna2d2	T	A	9: 107,404,346 (GRCm39)	C1081S	probably benign	Het
Cass4	T	C	2: 172,269,753 (GRCm39)	S612P	probably benign	Het
Cd209d	A	G	8: 3,926,337 (GRCm39)	S123P	probably damaging	Het
Cep112	T	C	11: 108,461,217 (GRCm39)	S665P	probably damaging	Het
Cnp	C	T	11: 100,467,437 (GRCm39)	R127W	probably damaging	Het
Col9a2	A	T	4: 120,898,226 (GRCm39)	D46V	unknown	Het
Cyp1a2	T	A	9: 57,587,562 (GRCm39)	N336I	probably benign	Het
Cyp2c37	A	G	19: 39,988,943 (GRCm39)	T301A	possibly damaging	Het
Dhtkd1	T	A	2: 5,935,622 (GRCm39)	E163D	probably benign	Het
Dido1	A	T	2: 180,325,354 (GRCm39)	F611L	probably benign	Het
Dnah9	T	A	11: 65,975,960 (GRCm39)	N1363I	probably damaging	Het
Drg2	A	G	11: 60,358,548 (GRCm39)	K331R	probably benign	Het
Fam171b	T	A	2: 83,690,787 (GRCm39)	I250K	probably damaging	Het
Fem1al	A	T	11: 29,775,253 (GRCm39)	V68E	probably damaging	Het
Fut8	T	A	12: 77,459,613 (GRCm39)	I242N	probably damaging	Het
Glyat	T	C	19: 12,628,844 (GRCm39)	V247A	probably benign	Het
Gucy2e	T	C	11: 69,123,516 (GRCm39)	N461S	probably benign	Het
Hif3a	T	A	7: 16,771,076 (GRCm39)	H627L	probably benign	Het
Ighv8-5	T	A	12: 115,031,228 (GRCm39)	T104S	probably benign	Het
Ighv8-9	C	T	12: 115,431,994 (GRCm39)	V106M	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Katna1	G	C	10: 7,638,590 (GRCm39)	E440D	probably null	Het
Kmt2c	T	C	5: 25,549,959 (GRCm39)	R1341G	probably damaging	Het
Krt14	C	T	11: 100,097,966 (GRCm39)	G106S	unknown	Het
Krt39	A	G	11: 99,409,188 (GRCm39)	C238R	possibly damaging	Het
Mak	C	T	13: 41,202,836 (GRCm39)	S204N	possibly damaging	Het
Map3k5	A	G	10: 19,810,812 (GRCm39)	Y154C	probably damaging	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Mgst1	A	T	6: 138,124,799 (GRCm39)	R38W	probably damaging	Het
Midn	A	G	10: 79,992,247 (GRCm39)	E433G	probably damaging	Het
Muc2	T	A	7: 141,280,785 (GRCm39)	C380*	probably null	Het
Nans	G	T	4: 46,499,129 (GRCm39)	K145N	possibly damaging	Het
Nbeal1	G	A	1: 60,299,741 (GRCm39)	W1359*	probably null	Het
Neo1	T	A	9: 58,889,503 (GRCm39)	E256V	probably benign	Het
Nkd1	C	A	8: 89,318,330 (GRCm39)	D322E	probably damaging	Het
Olfm4	T	C	14: 80,249,348 (GRCm39)	V155A	probably damaging	Het
Opa1	C	A	16: 29,437,029 (GRCm39)	S646*	probably null	Het
Or1p4-ps1	G	T	11: 74,208,709 (GRCm39)	C286F	unknown	Het
Or4f7	A	G	2: 111,644,604 (GRCm39)	S156P	probably damaging	Het
Or51ab3	T	A	7: 103,201,266 (GRCm39)	H91Q	probably benign	Het
Or52z1	T	A	7: 103,436,732 (GRCm39)	I251F	probably benign	Het
Or5b107	T	A	19: 13,142,813 (GRCm39)	L145Q	probably damaging	Het
Or5b12b	G	A	19: 12,861,874 (GRCm39)	V210M	probably benign	Het
Or7g29	A	T	9: 19,287,116 (GRCm39)	D20E	probably damaging	Het
Pcdh15	A	T	10: 74,467,212 (GRCm39)	H1743L	probably benign	Het
Ppp1r13b	T	C	12: 111,810,119 (GRCm39)	T230A	probably benign	Het
Ptf1a	G	T	2: 19,451,381 (GRCm39)	R237L	probably benign	Het
Ripk4	G	A	16: 97,549,306 (GRCm39)	P250L	possibly damaging	Het
Ropn1l	T	C	15: 31,453,649 (GRCm39)	H14R		Het
Setdb1	T	C	3: 95,233,173 (GRCm39)	S1122G	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a18	T	A	7: 143,046,678 (GRCm39)	M274K	probably benign	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Stk39	C	T	2: 68,198,775 (GRCm39)	G281E	probably damaging	Het
Stt3a	A	T	9: 36,670,079 (GRCm39)	L119Q	probably damaging	Het
Stx18	C	T	5: 38,196,635 (GRCm39)		probably benign	Het
Tgfbr3	G	T	5: 107,297,799 (GRCm39)	N200K	probably benign	Het
Timm8b	A	G	9: 50,516,273 (GRCm39)	E42G	probably benign	Het
Togaram1	T	A	12: 65,014,168 (GRCm39)	L473*	probably null	Het
Trappc12	A	G	12: 28,797,457 (GRCm39)	I25T	probably benign	Het
Trim33	T	C	3: 103,244,823 (GRCm39)	S737P	possibly damaging	Het
Trmt1	A	C	8: 85,424,330 (GRCm39)	H455P	probably damaging	Het
Trpc1	C	T	9: 95,599,646 (GRCm39)	R471H	possibly damaging	Het
Ttll2	T	A	17: 7,618,707 (GRCm39)	T407S	probably benign	Het
Unc45b	T	A	11: 82,816,986 (GRCm39)	N475K	probably damaging	Het
Usp48	T	A	4: 137,321,812 (GRCm39)	I40N	probably benign	Het
Wdr7	T	G	18: 64,037,236 (GRCm39)	V1220G	probably damaging	Het
Zfp830	C	T	11: 82,655,805 (GRCm39)	T203I	possibly damaging	Het
Zfp955a	T	A	17: 33,461,149 (GRCm39)	I328F	probably damaging	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
IGL00553:Stau1	APN	2	166,793,254 (GRCm39)	missense	possibly damaging	0.88
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

Predicted Primers

PCR Primer
(F):5'- TTGCAGGCAAAGCACCAATG -3'
(R):5'- GCACCCTCTGATTTGAAGGG -3'

Sequencing Primer
(F):5'- CAGCTACATGAATGTGTCTTATTGTC -3'
(R):5'- CACCCTCTGATTTGAAGGGAAACATG -3'

Posted On

2022-11-14