Incidental Mutation 'IGL01895:Stau2'
ID |
179367 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stau2
|
Ensembl Gene |
ENSMUSG00000025920 |
Gene Name |
staufen double-stranded RNA binding protein 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01895
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 16416161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 401
(G401S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000127420]
[ENSMUST00000128957]
[ENSMUST00000131257]
[ENSMUST00000162751]
[ENSMUST00000149320]
[ENSMUST00000162007]
[ENSMUST00000162627]
[ENSMUST00000159558]
[ENSMUST00000162435]
|
AlphaFold |
Q8CJ67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027052
AA Change: G401S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027052 Gene: ENSMUSG00000025920 AA Change: G401S
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 |
probably benign
Transcript: ENSMUST00000054668
AA Change: G433S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000053190 Gene: ENSMUSG00000025920 AA Change: G433S
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 |
noncoding transcript
Transcript: ENSMUST00000115360
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127420
|
SMART Domains |
Protein: ENSMUSP00000122116 Gene: ENSMUSG00000025920
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
2e-4 |
SMART |
Blast:DSRM
|
5 |
42 |
9e-17 |
BLAST |
Blast:DSRM
|
64 |
110 |
2e-25 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128957
AA Change: G433S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000122410 Gene: ENSMUSG00000025920 AA Change: G433S
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 |
2e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131257
AA Change: G395S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000121410 Gene: ENSMUSG00000025920 AA Change: G395S
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
1 |
34 |
9e-3 |
SMART |
DSRM
|
58 |
142 |
2.36e-7 |
SMART |
DSRM
|
170 |
235 |
1.84e-18 |
SMART |
DSRM
|
270 |
336 |
5.45e-21 |
SMART |
low complexity region
|
409 |
427 |
N/A |
INTRINSIC |
PDB:4DKK|A
|
428 |
473 |
2e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162751
AA Change: G433S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000124505 Gene: ENSMUSG00000025920 AA Change: G433S
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 |
probably benign
Transcript: ENSMUST00000149320
AA Change: G433S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000118489 Gene: ENSMUSG00000025920 AA Change: G433S
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 |
2e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162007
AA Change: G401S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000124303 Gene: ENSMUSG00000025920 AA Change: G401S
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
2e-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 |
2e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162627
AA Change: G401S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123781 Gene: ENSMUSG00000025920 AA Change: G401S
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 |
probably benign
Transcript: ENSMUST00000159558
AA Change: G401S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000125726 Gene: ENSMUSG00000025920 AA Change: G401S
Domain | Start | End | E-Value | Type |
SCOP:d1di2a_
|
5 |
40 |
2e-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 |
2e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162435
AA Change: G401S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123827 Gene: ENSMUSG00000025920 AA Change: G401S
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 |
|
Coding Region Coverage |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
T |
7: 45,678,482 (GRCm39) |
I56N |
possibly damaging |
Het |
Akr1c13 |
A |
T |
13: 4,255,372 (GRCm39) |
E321V |
possibly damaging |
Het |
Atp8b3 |
A |
T |
10: 80,357,662 (GRCm39) |
V1119D |
possibly damaging |
Het |
Cacna1e |
G |
T |
1: 154,319,646 (GRCm39) |
F1351L |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,427,274 (GRCm39) |
W585R |
probably damaging |
Het |
Ccdc113 |
C |
T |
8: 96,263,086 (GRCm39) |
|
probably benign |
Het |
Ccer1 |
A |
T |
10: 97,529,912 (GRCm39) |
I192F |
unknown |
Het |
Chd8 |
T |
C |
14: 52,436,551 (GRCm39) |
N90S |
probably benign |
Het |
Clca3a1 |
A |
T |
3: 144,453,333 (GRCm39) |
C463* |
probably null |
Het |
Cplane1 |
T |
A |
15: 8,258,591 (GRCm39) |
V2279E |
possibly damaging |
Het |
Cyp2c65 |
T |
A |
19: 39,060,676 (GRCm39) |
C179S |
possibly damaging |
Het |
Dennd4b |
A |
G |
3: 90,182,874 (GRCm39) |
Q35R |
probably benign |
Het |
Enpep |
T |
C |
3: 129,063,983 (GRCm39) |
E928G |
possibly damaging |
Het |
Fem1c |
T |
C |
18: 46,638,629 (GRCm39) |
T458A |
probably benign |
Het |
Fezf2 |
A |
T |
14: 12,342,498 (GRCm38) |
*456R |
probably null |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Iqcm |
T |
G |
8: 76,615,188 (GRCm39) |
L423R |
probably damaging |
Het |
Kcnc4 |
C |
A |
3: 107,355,534 (GRCm39) |
V305L |
probably benign |
Het |
Kif1a |
G |
A |
1: 92,953,455 (GRCm39) |
T1337I |
possibly damaging |
Het |
Lpxn |
A |
G |
19: 12,810,450 (GRCm39) |
D298G |
probably damaging |
Het |
Lypd8 |
A |
G |
11: 58,281,046 (GRCm39) |
T203A |
possibly damaging |
Het |
Mrps28 |
C |
T |
3: 8,965,119 (GRCm39) |
V107M |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,324 (GRCm39) |
E586G |
possibly damaging |
Het |
Pdzk1 |
C |
T |
3: 96,776,417 (GRCm39) |
A459V |
possibly damaging |
Het |
Rbpj |
A |
G |
5: 53,808,728 (GRCm39) |
D285G |
probably damaging |
Het |
Rimbp3 |
T |
C |
16: 17,029,300 (GRCm39) |
L908P |
probably damaging |
Het |
Samd4b |
T |
C |
7: 28,101,334 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
A |
C |
2: 122,355,572 (GRCm39) |
Y588S |
possibly damaging |
Het |
Trpa1 |
A |
T |
1: 14,957,867 (GRCm39) |
I697K |
possibly damaging |
Het |
Ttc17 |
A |
C |
2: 94,205,491 (GRCm39) |
V285G |
possibly damaging |
Het |
Unc5b |
A |
G |
10: 60,602,864 (GRCm39) |
F845S |
probably damaging |
Het |
Vmn1r19 |
A |
T |
6: 57,382,245 (GRCm39) |
Q266L |
probably benign |
Het |
Vmn2r106 |
T |
C |
17: 20,499,227 (GRCm39) |
N228S |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,882,836 (GRCm39) |
F919S |
possibly damaging |
Het |
Zbtb38 |
C |
T |
9: 96,570,461 (GRCm39) |
V208I |
probably benign |
Het |
Zfp990 |
A |
T |
4: 145,263,427 (GRCm39) |
T142S |
probably damaging |
Het |
Zfp990 |
C |
A |
4: 145,263,428 (GRCm39) |
T142N |
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 |
|
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 |
R2884:Stau2
|
UTSW |
1 |
16,301,290 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
|
|
Posted On |
2014-05-07 |