Incidental Mutation 'R2884:Stau2'
| ID |
260945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stau2
|
| Ensembl Gene |
ENSMUSG00000025920 |
| Gene Name |
staufen double-stranded RNA binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
040472-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2884 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16301290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 519
(F519Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000162435]
[ENSMUST00000162627]
[ENSMUST00000162751]
|
| AlphaFold |
Q8CJ67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027052
AA Change: F487Y
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027052
Gene: ENSMUSG00000025920
AA Change: F487Y
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1di2a_
|
5 |
40 |
3e-3 |
SMART |
|
DSRM
|
64 |
148 |
2.36e-7 |
SMART |
|
DSRM
|
176 |
241 |
1.84e-18 |
SMART |
|
DSRM
|
276 |
342 |
5.45e-21 |
SMART |
|
low complexity region
|
415 |
433 |
N/A |
INTRINSIC |
|
PDB:4DKK|A
|
434 |
479 |
5e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054668
AA Change: F519Y
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000053190
Gene: ENSMUSG00000025920
AA Change: F519Y
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
|
DSRM
|
96 |
180 |
2.36e-7 |
SMART |
|
DSRM
|
208 |
273 |
1.84e-18 |
SMART |
|
DSRM
|
308 |
374 |
5.45e-21 |
SMART |
|
low complexity region
|
447 |
465 |
N/A |
INTRINSIC |
|
PDB:4DKK|A
|
466 |
511 |
6e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162435
AA Change: F487Y
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123827
Gene: ENSMUSG00000025920
AA Change: F487Y
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1di2a_
|
5 |
40 |
3e-3 |
SMART |
|
DSRM
|
64 |
148 |
2.36e-7 |
SMART |
|
DSRM
|
176 |
241 |
1.84e-18 |
SMART |
|
DSRM
|
276 |
342 |
5.45e-21 |
SMART |
|
low complexity region
|
415 |
433 |
N/A |
INTRINSIC |
|
PDB:4DKK|A
|
434 |
479 |
5e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162627
AA Change: F487Y
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123781
Gene: ENSMUSG00000025920
AA Change: F487Y
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1di2a_
|
5 |
40 |
3e-3 |
SMART |
|
DSRM
|
64 |
148 |
2.36e-7 |
SMART |
|
DSRM
|
176 |
241 |
1.84e-18 |
SMART |
|
DSRM
|
276 |
342 |
5.45e-21 |
SMART |
|
low complexity region
|
415 |
433 |
N/A |
INTRINSIC |
|
PDB:4DKK|A
|
434 |
479 |
5e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162751
AA Change: F519Y
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124505
Gene: ENSMUSG00000025920
AA Change: F519Y
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
|
DSRM
|
96 |
180 |
2.36e-7 |
SMART |
|
DSRM
|
208 |
273 |
1.84e-18 |
SMART |
|
DSRM
|
308 |
374 |
5.45e-21 |
SMART |
|
Pfam:Staufen_C
|
455 |
523 |
6.5e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186343
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Staufen homolog 2 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. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,694,122 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,370,841 (GRCm39) |
G626D |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,942,846 (GRCm39) |
I317N |
probably benign |
Het |
| Fam3c |
G |
A |
6: 22,329,581 (GRCm39) |
R49C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
| Gm19965 |
T |
A |
1: 116,749,313 (GRCm39) |
N331K |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
| Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
| Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
| Lilrb4a |
A |
T |
10: 51,367,709 (GRCm39) |
N84Y |
probably benign |
Het |
| Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
| Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,198,163 (GRCm39) |
L179P |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
| Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
| Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
| Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
| Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
| Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
probably damaging |
Het |
|
| Other mutations in Stau2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Stau2
|
APN |
1 |
16,415,922 (GRCm39) |
makesense |
probably null |
|
|
IGL01809:Stau2
|
APN |
1 |
16,510,539 (GRCm39) |
splice site |
probably null |
|
|
IGL01895:Stau2
|
APN |
1 |
16,416,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02164:Stau2
|
APN |
1 |
16,416,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02507:Stau2
|
APN |
1 |
16,556,293 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0124:Stau2
|
UTSW |
1 |
16,533,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Stau2
|
UTSW |
1 |
16,510,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1104:Stau2
|
UTSW |
1 |
16,510,585 (GRCm39) |
nonsense |
probably null |
|
|
R1296:Stau2
|
UTSW |
1 |
16,510,596 (GRCm39) |
missense |
probably benign |
|
|
R1359:Stau2
|
UTSW |
1 |
16,462,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4066:Stau2
|
UTSW |
1 |
16,464,283 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4718:Stau2
|
UTSW |
1 |
16,416,269 (GRCm39) |
splice site |
probably null |
|
|
R5496:Stau2
|
UTSW |
1 |
16,460,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Stau2
|
UTSW |
1 |
16,445,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6447:Stau2
|
UTSW |
1 |
16,460,049 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6964:Stau2
|
UTSW |
1 |
16,460,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Stau2
|
UTSW |
1 |
16,530,553 (GRCm39) |
missense |
unknown |
|
|
R7885:Stau2
|
UTSW |
1 |
16,530,577 (GRCm39) |
missense |
unknown |
|
|
R8142:Stau2
|
UTSW |
1 |
16,530,575 (GRCm39) |
missense |
unknown |
|
|
R8161:Stau2
|
UTSW |
1 |
16,416,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9173:Stau2
|
UTSW |
1 |
16,444,933 (GRCm39) |
nonsense |
probably null |
|
|
R9774:Stau2
|
UTSW |
1 |
16,445,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9787:Stau2
|
UTSW |
1 |
16,530,595 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCCTCAATGGCCAACTC -3'
(R):5'- GCCAGAGCTCAGAGTAATGG -3'
Sequencing Primer
(F):5'- TGGCCAACTCACAGCTTAG -3'
(R):5'- TGGAACACACACACTATCATGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation