Incidental Mutation 'R7885:Stau2'
| ID |
608986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stau2
|
| Ensembl Gene |
ENSMUSG00000025920 |
| Gene Name |
staufen double-stranded RNA binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
045937-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7885 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16530577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 114
(Y114C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000115359]
[ENSMUST00000127420]
[ENSMUST00000128957]
[ENSMUST00000131257]
[ENSMUST00000144138]
[ENSMUST00000145092]
[ENSMUST00000149320]
[ENSMUST00000151888]
[ENSMUST00000153966]
[ENSMUST00000159558]
[ENSMUST00000162007]
[ENSMUST00000162435]
[ENSMUST00000162627]
[ENSMUST00000162751]
|
| AlphaFold |
Q8CJ67 |
| Predicted Effect |
probably benign
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 benign
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 |
unknown
Transcript: ENSMUST00000115359
AA Change: Y114C
|
| SMART Domains |
Protein: ENSMUSP00000111016
Gene: ENSMUSG00000025920
AA Change: Y114C
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
|
low complexity region
|
76 |
94 |
N/A |
INTRINSIC |
|
| 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
|
| 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 benign
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 |
unknown
Transcript: ENSMUST00000144138
AA Change: Y114C
|
| SMART Domains |
Protein: ENSMUSP00000119130
Gene: ENSMUSG00000025920
AA Change: Y114C
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
|
low complexity region
|
76 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145092
AA Change: Y82C
|
| SMART Domains |
Protein: ENSMUSP00000115041
Gene: ENSMUSG00000025920
AA Change: Y82C
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1di2a_
|
5 |
40 |
1e-4 |
SMART |
|
Blast:DSRM
|
5 |
42 |
1e-16 |
BLAST |
|
low complexity region
|
44 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000151888
|
| SMART Domains |
Protein: ENSMUSP00000125473
Gene: ENSMUSG00000025920
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSRM
|
1 |
55 |
3e-35 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153966
|
| SMART Domains |
Protein: ENSMUSP00000117537
Gene: ENSMUSG00000025920
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
9 |
74 |
1.17e-11 |
SMART |
|
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,131,542 (GRCm39) |
V649A |
possibly damaging |
Het |
| Arglu1 |
C |
T |
8: 8,717,337 (GRCm39) |
R244H |
possibly damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,812 (GRCm39) |
Y204F |
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,104,876 (GRCm39) |
F76S |
probably damaging |
Het |
| Bin1 |
G |
A |
18: 32,552,896 (GRCm39) |
A174T |
probably damaging |
Het |
| Bnipl |
A |
C |
3: 95,157,551 (GRCm39) |
S23A |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,011,303 (GRCm39) |
T294A |
probably benign |
Het |
| Cdon |
G |
A |
9: 35,367,818 (GRCm39) |
V238I |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,451 (GRCm39) |
D957E |
probably benign |
Het |
| Crhbp |
T |
C |
13: 95,568,515 (GRCm39) |
Q307R |
probably damaging |
Het |
| Cst3 |
A |
G |
2: 148,714,741 (GRCm39) |
M112T |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,189,425 (GRCm39) |
E276G |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,735,001 (GRCm39) |
N539K |
probably benign |
Het |
| Gm3099 |
A |
G |
14: 15,345,429 (GRCm39) |
E85G |
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 186,957,698 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,704,776 (GRCm39) |
Y26* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,244,148 (GRCm39) |
D802V |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,813 (GRCm39) |
V846A |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,964,840 (GRCm39) |
S1402T |
probably benign |
Het |
| Lrmda |
A |
G |
14: 22,648,388 (GRCm39) |
T73A |
unknown |
Het |
| Lrrc1 |
A |
T |
9: 77,349,471 (GRCm39) |
V365E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,393,868 (GRCm39) |
Q519L |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,862,107 (GRCm39) |
D36E |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,223,092 (GRCm39) |
D445V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,550,760 (GRCm39) |
S5178P |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,573,110 (GRCm39) |
I2491T |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,389,044 (GRCm39) |
I77T |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,109,474 (GRCm39) |
H701N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,041 (GRCm39) |
T242P |
probably damaging |
Het |
| Or7g22 |
A |
T |
9: 19,048,831 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pclo |
T |
TTCTAG |
5: 14,764,209 (GRCm39) |
|
probably null |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
| Pclo |
TCTAT |
TCTATACTAT |
5: 14,764,205 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
T |
C |
3: 94,906,387 (GRCm39) |
Y645H |
probably damaging |
Het |
| Pik3r5 |
C |
T |
11: 68,383,528 (GRCm39) |
A449V |
possibly damaging |
Het |
| Plat |
A |
G |
8: 23,261,736 (GRCm39) |
T45A |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,676 (GRCm39) |
K62R |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,740,111 (GRCm39) |
V410A |
possibly damaging |
Het |
| Prdm2 |
C |
T |
4: 142,861,140 (GRCm39) |
A717T |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,882,422 (GRCm39) |
T2K |
probably benign |
Het |
| Ptpn12 |
A |
C |
5: 21,203,523 (GRCm39) |
S418R |
possibly damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,642 (GRCm39) |
S255G |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,322,371 (GRCm39) |
L608P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,714,776 (GRCm39) |
H1581R |
probably benign |
Het |
| Ticam1 |
T |
C |
17: 56,578,067 (GRCm39) |
T343A |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,817,724 (GRCm39) |
K1259E |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,013,385 (GRCm39) |
F169I |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,673,312 (GRCm39) |
K425E |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,258,089 (GRCm39) |
M746T |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,313,598 (GRCm39) |
I149T |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,222,193 (GRCm39) |
D62E |
probably benign |
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 |
|
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 |
|
|
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'- AACTGCTACTAGGGTGCACCAG -3'
(R):5'- CAGGCAAGTGCACACATTACTG -3'
Sequencing Primer
(F):5'- GCAGTACTGATGATCCTAGGTTCAC -3'
(R):5'- GTGCACACATTACTGTTGCCAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation