Incidental Mutation 'R4542:Stau1'
| ID |
333566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stau1
|
| Ensembl Gene |
ENSMUSG00000039536 |
| Gene Name |
staufen double-stranded RNA binding protein 1 |
| Synonyms |
5830401L18Rik |
| MMRRC Submission |
041593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
166789469-166838219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 166795181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 223
(Y223H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049412]
[ENSMUST00000109235]
[ENSMUST00000109236]
[ENSMUST00000109238]
[ENSMUST00000184390]
|
| AlphaFold |
Q9Z108 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049412
AA Change: Y217H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042626
Gene: ENSMUSG00000039536
AA Change: Y217H
| 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 damaging
Transcript: ENSMUST00000109235
AA Change: Y217H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104858
Gene: ENSMUSG00000039536
AA Change: Y217H
| 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 damaging
Transcript: ENSMUST00000109236
AA Change: Y215H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104859
Gene: ENSMUSG00000039536
AA Change: Y215H
| 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 damaging
Transcript: ENSMUST00000109238
AA Change: Y223H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104861
Gene: ENSMUSG00000039536
AA Change: Y223H
| 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 |
noncoding transcript
Transcript: ENSMUST00000142481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154506
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184390
AA Change: Y223H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139039
Gene: ENSMUSG00000039536
AA Change: Y223H
| 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: ENSMUST00000149454
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,875 (GRCm39) |
L833Q |
probably damaging |
Het |
| Adcy6 |
C |
G |
15: 98,496,869 (GRCm39) |
V469L |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,937,591 (GRCm39) |
F57I |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,329 (GRCm39) |
I734V |
probably benign |
Het |
| Cab39l |
C |
A |
14: 59,734,351 (GRCm39) |
D23E |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,860,991 (GRCm39) |
T839A |
probably benign |
Het |
| Clgn |
A |
G |
8: 84,146,838 (GRCm39) |
E297G |
probably damaging |
Het |
| Crip1 |
A |
G |
12: 113,117,109 (GRCm39) |
Y108C |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,197,688 (GRCm39) |
S61G |
probably benign |
Het |
| Dph5 |
T |
C |
3: 115,722,274 (GRCm39) |
S251P |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,602,984 (GRCm39) |
V333E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,930,728 (GRCm39) |
D918G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,096,980 (GRCm39) |
E254G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,494,931 (GRCm39) |
C4065R |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,148 (GRCm39) |
F169S |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,684 (GRCm39) |
I1384T |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,878,593 (GRCm39) |
L302* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,558,889 (GRCm39) |
|
silent |
Het |
| Nlrp1b |
A |
C |
11: 71,119,151 (GRCm39) |
L48W |
probably damaging |
Het |
| Nlrp4c |
G |
A |
7: 6,103,826 (GRCm39) |
W920* |
probably null |
Het |
| Nr2f1 |
C |
T |
13: 78,337,940 (GRCm39) |
G235D |
probably damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,860,095 (GRCm39) |
D374E |
probably benign |
Het |
| Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,850 (GRCm39) |
D120G |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,287 (GRCm39) |
D312G |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,283,589 (GRCm39) |
I742T |
probably damaging |
Het |
| Rftn1 |
A |
G |
17: 50,362,259 (GRCm39) |
|
probably null |
Het |
| Rfx1 |
G |
A |
8: 84,816,866 (GRCm39) |
G466S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,584,200 (GRCm39) |
S1472T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,799,394 (GRCm39) |
Q421R |
probably benign |
Het |
| Slc25a10 |
G |
A |
11: 120,388,807 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,097 (GRCm39) |
Y1510C |
unknown |
Het |
| Ssu72 |
A |
G |
4: 155,817,934 (GRCm39) |
Q163R |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,935,503 (GRCm39) |
S92T |
probably benign |
Het |
| Ulbp1 |
T |
C |
10: 7,406,570 (GRCm39) |
D45G |
probably damaging |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,357 (GRCm39) |
Y207C |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,497 (GRCm39) |
D305G |
possibly damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,276,232 (GRCm39) |
K522E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCAAACTCTGGTCCAAC -3'
(R):5'- AGGTTTCTGTCTCAGTCCCG -3'
Sequencing Primer
(F):5'- GTCTTGAACTCATAGAGATCCACCTG -3'
(R):5'- GTCTCAGTCCCGTGCTGAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation