Mutagenetix > Incidental Mutation

Incidental Mutation 'R7877:Stau1'

608479

Institutional Source

Beutler Lab

Gene Symbol

Stau1

Ensembl Gene

ENSMUSG00000039536

Gene Name

staufen double-stranded RNA binding protein 1

Synonyms

5830401L18Rik

MMRRC Submission

045929-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7877 (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 A at 166792787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 393 (N393Y)

Ref Sequence

ENSEMBL: ENSMUSP00000104861 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000049412
AA Change: N387Y

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042626
Gene: ENSMUSG00000039536
AA Change: N387Y

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

possibly damaging
Transcript: ENSMUST00000109235
AA Change: N387Y

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104858
Gene: ENSMUSG00000039536
AA Change: N387Y

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

possibly damaging
Transcript: ENSMUST00000109236
AA Change: N385Y

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104859
Gene: ENSMUSG00000039536
AA Change: N385Y

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

possibly damaging
Transcript: ENSMUST00000109238
AA Change: N393Y

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104861
Gene: ENSMUSG00000039536
AA Change: N393Y

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: 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,220,665 (GRCm39)	C388Y	probably damaging	Het
4930522L14Rik	G	A	5: 109,884,230 (GRCm39)	H543Y	probably damaging	Het
Abca1	A	T	4: 53,046,135 (GRCm39)	V1711E	possibly damaging	Het
Abca3	A	T	17: 24,602,997 (GRCm39)	K531*	probably null	Het
Adgrf5	A	T	17: 43,752,729 (GRCm39)	D557V	possibly damaging	Het
Adgrl3	A	G	5: 81,842,467 (GRCm39)	E865G	probably benign	Het
Adprhl1	T	A	8: 13,275,316 (GRCm39)	R481*	probably null	Het
Afap1l1	T	A	18: 61,879,853 (GRCm39)	D339V	probably damaging	Het
Atp9b	T	A	18: 80,890,412 (GRCm39)	H309L		Het
Baiap3	A	G	17: 25,470,112 (GRCm39)	V122A	probably damaging	Het
Btg4	T	C	9: 51,029,240 (GRCm39)	S142P	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdca2	T	A	14: 67,914,665 (GRCm39)	T865S	probably benign	Het
Cdk12	A	G	11: 98,131,661 (GRCm39)	Y964C	unknown	Het
Cenpo	A	T	12: 4,264,573 (GRCm39)	F273Y	probably damaging	Het
Cfap96	T	A	8: 46,423,436 (GRCm39)	K92M	probably damaging	Het
Chac1	T	A	2: 119,183,987 (GRCm39)	D196E	probably damaging	Het
Clec4n	T	C	6: 123,209,063 (GRCm39)	F43L	probably benign	Het
Colgalt1	T	A	8: 72,074,508 (GRCm39)	C407S	probably damaging	Het
Csnk1g1	T	A	9: 65,906,830 (GRCm39)		probably null	Het
Cyp2b23	T	A	7: 26,385,851 (GRCm39)	E2V	probably damaging	Het
Cyp51	T	A	5: 4,152,929 (GRCm39)	K91M	probably damaging	Het
Cyria	A	C	12: 12,414,798 (GRCm39)	Y263S	probably benign	Het
Dnah8	G	T	17: 30,882,348 (GRCm39)	G640V	probably benign	Het
Dnajc2	G	T	5: 21,965,637 (GRCm39)	S505R	possibly damaging	Het
Fam124b	A	T	1: 80,191,053 (GRCm39)	L110H	probably damaging	Het
Fem1b	T	A	9: 62,703,844 (GRCm39)	Y472F	probably benign	Het
Frem1	A	G	4: 82,932,049 (GRCm39)		probably null	Het
Gabrg1	A	T	5: 70,973,415 (GRCm39)	D46E	probably damaging	Het
Gbp4	T	C	5: 105,266,161 (GRCm39)	K627E	probably benign	Het
Glis1	A	G	4: 107,491,900 (GRCm39)	D776G	probably damaging	Het
Gm4847	A	G	1: 166,467,575 (GRCm39)	V207A	possibly damaging	Het
Gm7298	T	A	6: 121,759,741 (GRCm39)	Y1213*	probably null	Het
Gm8229	T	A	14: 44,604,033 (GRCm39)	L74*	probably null	Het
Hc	A	T	2: 34,887,411 (GRCm39)	Y1364*	probably null	Het
Hnrnpa2b1	A	T	6: 51,443,302 (GRCm39)	S186R	unknown	Het
Hrh4	A	G	18: 13,155,582 (GRCm39)	I374V	possibly damaging	Het
Ighmbp2	A	G	19: 3,311,490 (GRCm39)	L975P	probably damaging	Het
Intu	G	A	3: 40,654,222 (GRCm39)	V905I	probably benign	Het
Large1	T	A	8: 73,843,071 (GRCm39)	R151W	probably damaging	Het
Limd2	G	A	11: 106,050,004 (GRCm39)	T24M	probably benign	Het
Med16	A	T	10: 79,734,206 (GRCm39)	C569*	probably null	Het
Mettl1	T	G	10: 126,880,390 (GRCm39)	V104G	possibly damaging	Het
Mgat4c	A	G	10: 102,220,900 (GRCm39)	T61A	probably benign	Het
Mrps31	T	A	8: 22,914,367 (GRCm39)	Y238N	probably benign	Het
Mrs2	T	C	13: 25,181,113 (GRCm39)	E236G	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Noxred1	G	A	12: 87,271,761 (GRCm39)	A136V	probably benign	Het
Obscn	T	A	11: 59,024,588 (GRCm39)	D484V	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pik3r5	G	A	11: 68,381,431 (GRCm39)	G206R	probably damaging	Het
Plekhh2	G	A	17: 84,882,434 (GRCm39)	C680Y	probably benign	Het
Plxna1	A	G	6: 89,300,241 (GRCm39)	F1614S	probably damaging	Het
Ppip5k1	T	C	2: 121,147,235 (GRCm39)	M1129V	probably benign	Het
Prp2	C	T	6: 132,572,928 (GRCm39)	T7I	unknown	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Sdhaf3	C	T	6: 7,038,855 (GRCm39)	T59M	probably benign	Het
Slc17a6	T	A	7: 51,275,253 (GRCm39)	I104N	probably benign	Het
Slc35c1	A	T	2: 92,289,402 (GRCm39)	W48R	probably damaging	Het
Slc5a4b	A	T	10: 75,910,886 (GRCm39)	C317S	probably damaging	Het
Smim13	G	T	13: 41,403,650 (GRCm39)		probably benign	Het
Snrpg	T	C	6: 86,355,761 (GRCm39)	V76A	probably benign	Het
Sntb2	C	T	8: 107,738,164 (GRCm39)	T509I	probably benign	Het
Sptbn1	T	C	11: 30,079,601 (GRCm39)	D1276G	possibly damaging	Het
Sptbn2	A	G	19: 4,794,290 (GRCm39)	E1498G	possibly damaging	Het
Tars2	A	T	3: 95,653,401 (GRCm39)	S500T	probably damaging	Het
Tbc1d23	A	T	16: 56,993,488 (GRCm39)	D559E	probably benign	Het
Trav14-2	T	C	14: 53,878,508 (GRCm39)	Y64H	possibly damaging	Het
Trpm3	A	C	19: 22,882,148 (GRCm39)	E838D	probably benign	Het
Vmn1r23	G	A	6: 57,903,541 (GRCm39)	A79V	probably benign	Het
Vmn1r48	G	T	6: 90,013,431 (GRCm39)	N131K	probably benign	Het
Vmn2r18	A	T	5: 151,508,437 (GRCm39)	M229K	probably damaging	Het
Zbtb4	G	A	11: 69,666,863 (GRCm39)	R56K	probably benign	Het
Zfp616	G	T	11: 73,975,188 (GRCm39)	G486W	probably damaging	Het
Zkscan8	A	T	13: 21,704,580 (GRCm39)	F453Y	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TATATAAGCCATTCTCATCCCAGAC -3'
(R):5'- TGGAATTCTCCCCATGGTGC -3'

Sequencing Primer
(F):5'- AGCATATAATCTTGCCTTTTCTGG -3'
(R):5'- CATGGTGCCGGAAGTTGC -3'

Posted On

2019-12-20