Incidental Mutation 'IGL01809:Stau2'
| ID |
155785 |
| 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 # |
IGL01809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
| Type of Mutation |
splice site (8 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 16510539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000127420]
[ENSMUST00000128957]
[ENSMUST00000131257]
[ENSMUST00000149320]
[ENSMUST00000151888]
[ENSMUST00000162751]
[ENSMUST00000162627]
[ENSMUST00000162007]
[ENSMUST00000162435]
[ENSMUST00000159558]
[ENSMUST00000153966]
|
| AlphaFold |
Q8CJ67 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027052
|
| SMART Domains |
Protein: ENSMUSP00000027052
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000054668
|
| SMART Domains |
Protein: ENSMUSP00000053190
Gene: ENSMUSG00000025920
| 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 |
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 null
Transcript: ENSMUST00000128957
|
| SMART Domains |
Protein: ENSMUSP00000122410
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000131257
|
| SMART Domains |
Protein: ENSMUSP00000121410
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000149320
|
| SMART Domains |
Protein: ENSMUSP00000118489
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000151888
|
| SMART Domains |
Protein: ENSMUSP00000125473
Gene: ENSMUSG00000025920
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSRM
|
1 |
55 |
3e-35 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162751
|
| SMART Domains |
Protein: ENSMUSP00000124505
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000162627
|
| SMART Domains |
Protein: ENSMUSP00000123781
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000162007
|
| SMART Domains |
Protein: ENSMUSP00000124303
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000162435
|
| SMART Domains |
Protein: ENSMUSP00000123827
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000159558
|
| SMART Domains |
Protein: ENSMUSP00000125726
Gene: ENSMUSG00000025920
| 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 null
Transcript: ENSMUST00000153966
|
| SMART Domains |
Protein: ENSMUSP00000117537
Gene: ENSMUSG00000025920
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,240,339 (GRCm39) |
N734I |
probably damaging |
Het |
| Abi1 |
T |
C |
2: 22,836,729 (GRCm39) |
I371V |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,355,845 (GRCm39) |
F1289S |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,454,526 (GRCm39) |
|
probably null |
Het |
| C8a |
A |
T |
4: 104,703,139 (GRCm39) |
I306N |
probably benign |
Het |
| Crybg3 |
G |
T |
16: 59,345,216 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,617,745 (GRCm39) |
|
probably benign |
Het |
| Dtl |
A |
G |
1: 191,280,415 (GRCm39) |
F373S |
probably damaging |
Het |
| Dynlt1a |
G |
A |
17: 6,361,147 (GRCm39) |
|
probably null |
Het |
| Dyrk1a |
G |
A |
16: 94,460,476 (GRCm39) |
R44H |
probably benign |
Het |
| Fam114a2 |
C |
T |
11: 57,404,461 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,808,691 (GRCm39) |
E1670G |
possibly damaging |
Het |
| Gbp10 |
A |
T |
5: 105,365,225 (GRCm39) |
N594K |
probably benign |
Het |
| Gpam |
T |
A |
19: 55,064,057 (GRCm39) |
K679* |
probably null |
Het |
| Gtf2i |
A |
T |
5: 134,278,804 (GRCm39) |
V524E |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,129,079 (GRCm39) |
E2011D |
probably damaging |
Het |
| Jag1 |
C |
A |
2: 136,957,404 (GRCm39) |
G103W |
probably damaging |
Het |
| Klkb1 |
A |
T |
8: 45,729,090 (GRCm39) |
V378E |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,388 (GRCm39) |
S933R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,971,860 (GRCm39) |
S619G |
probably benign |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,235,191 (GRCm39) |
I36V |
probably benign |
Het |
| Nckipsd |
T |
C |
9: 108,694,753 (GRCm39) |
Y652H |
probably damaging |
Het |
| Or5ak24 |
A |
G |
2: 85,260,498 (GRCm39) |
L225P |
probably damaging |
Het |
| Or5w13 |
T |
C |
2: 87,524,089 (GRCm39) |
I46V |
possibly damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,591 (GRCm39) |
I92T |
probably damaging |
Het |
| Or8g53 |
A |
T |
9: 39,683,990 (GRCm39) |
Y35* |
probably null |
Het |
| Phykpl |
T |
C |
11: 51,490,351 (GRCm39) |
F411L |
probably benign |
Het |
| Rbm8a |
T |
A |
3: 96,538,853 (GRCm39) |
F101I |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,677,257 (GRCm39) |
G402W |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,070 (GRCm39) |
R254* |
probably null |
Het |
| Rsph14 |
G |
A |
10: 74,793,618 (GRCm39) |
|
probably benign |
Het |
| Tmprss11c |
G |
A |
5: 86,385,521 (GRCm39) |
S304L |
possibly damaging |
Het |
| Vipr1 |
T |
G |
9: 121,490,506 (GRCm39) |
M184R |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,364,152 (GRCm39) |
R752C |
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 |
|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation