Incidental Mutation 'R9774:Stau2'
| ID |
733562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stau2
|
| Ensembl Gene |
ENSMUSG00000025920 |
| Gene Name |
staufen double-stranded RNA binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
16298898-16590336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16445010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 306
(M306K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027052]
[ENSMUST00000054668]
[ENSMUST00000127420]
[ENSMUST00000128957]
[ENSMUST00000131257]
[ENSMUST00000149320]
[ENSMUST00000159558]
[ENSMUST00000162751]
[ENSMUST00000162007]
[ENSMUST00000162435]
[ENSMUST00000162627]
|
| AlphaFold |
Q8CJ67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027052
AA Change: M274K
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027052
Gene: ENSMUSG00000025920
AA Change: M274K
| 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 damaging
Transcript: ENSMUST00000054668
AA Change: M306K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053190
Gene: ENSMUSG00000025920
AA Change: M306K
| 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 damaging
Transcript: ENSMUST00000128957
AA Change: M306K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122410
Gene: ENSMUSG00000025920
AA Change: M306K
| 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 damaging
Transcript: ENSMUST00000131257
AA Change: M268K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121410
Gene: ENSMUSG00000025920
AA Change: M268K
| 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 damaging
Transcript: ENSMUST00000149320
AA Change: M306K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118489
Gene: ENSMUSG00000025920
AA Change: M306K
| 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 damaging
Transcript: ENSMUST00000159558
AA Change: M274K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125726
Gene: ENSMUSG00000025920
AA Change: M274K
| 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: ENSMUST00000162751
AA Change: M306K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124505
Gene: ENSMUSG00000025920
AA Change: M306K
| 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 damaging
Transcript: ENSMUST00000162007
AA Change: M274K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124303
Gene: ENSMUSG00000025920
AA Change: M274K
| 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
AA Change: M274K
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123827
Gene: ENSMUSG00000025920
AA Change: M274K
| 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
AA Change: M274K
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123781
Gene: ENSMUSG00000025920
AA Change: M274K
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
A |
C |
7: 30,399,261 (GRCm39) |
Q18H |
possibly damaging |
Het |
| Adam23 |
C |
T |
1: 63,585,583 (GRCm39) |
T390I |
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,929,847 (GRCm39) |
C174* |
probably null |
Het |
| Brip1 |
A |
G |
11: 86,077,838 (GRCm39) |
S197P |
possibly damaging |
Het |
| Ccdc146 |
G |
T |
5: 21,506,247 (GRCm39) |
D731E |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,668,645 (GRCm39) |
V557A |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,484,665 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,299,093 (GRCm39) |
I424V |
unknown |
Het |
| Cubn |
C |
T |
2: 13,433,530 (GRCm39) |
V1127I |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,581,976 (GRCm39) |
T339A |
probably benign |
Het |
| Ezh2 |
T |
A |
6: 47,519,315 (GRCm39) |
I506L |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,991,057 (GRCm39) |
M1V |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,372,032 (GRCm39) |
V567E |
probably null |
Het |
| Hrh1 |
A |
T |
6: 114,457,241 (GRCm39) |
E174V |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,272,040 (GRCm39) |
S585G |
possibly damaging |
Het |
| Kcnq4 |
C |
A |
4: 120,573,076 (GRCm39) |
A242S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,804,014 (GRCm39) |
N842S |
probably benign |
Het |
| Mbd1 |
A |
G |
18: 74,408,274 (GRCm39) |
Q309R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,943,613 (GRCm39) |
I383T |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,075,287 (GRCm39) |
D172G |
probably benign |
Het |
| Muc2 |
T |
G |
7: 141,285,811 (GRCm39) |
S19A |
probably benign |
Het |
| Ndufb2 |
T |
C |
6: 39,575,301 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 53,994,108 (GRCm39) |
T246S |
probably damaging |
Het |
| Or8u8 |
C |
T |
2: 86,012,015 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,675,920 (GRCm39) |
N942I |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,281,751 (GRCm39) |
V177A |
probably benign |
Het |
| Rab5b |
A |
G |
10: 128,522,658 (GRCm39) |
V41A |
probably benign |
Het |
| Rnf111 |
T |
C |
9: 70,334,303 (GRCm39) |
D980G |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,114,185 (GRCm39) |
T515A |
probably benign |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGTCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
T |
A |
1: 106,923,579 (GRCm39) |
F95I |
probably benign |
Het |
| Sgsm3 |
C |
T |
15: 80,890,673 (GRCm39) |
R76C |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,603,134 (GRCm39) |
V494A |
probably benign |
Het |
| Spag9 |
A |
G |
11: 94,005,062 (GRCm39) |
E1182G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,944,196 (GRCm39) |
S530P |
probably benign |
Het |
| Spatc1l |
A |
G |
10: 76,405,168 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
G |
2: 121,938,965 (GRCm39) |
S330P |
probably damaging |
Het |
| Tcea2 |
C |
T |
2: 181,328,664 (GRCm39) |
T239I |
probably damaging |
Het |
| Tlcd2 |
A |
G |
11: 75,359,131 (GRCm39) |
D34G |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,842,904 (GRCm39) |
W190* |
probably null |
Het |
| Top3a |
C |
A |
11: 60,638,998 (GRCm39) |
V551L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,898,041 (GRCm39) |
E1225K |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,645,660 (GRCm39) |
H350R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyw3 |
T |
C |
3: 154,302,584 (GRCm39) |
D27G |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,153,875 (GRCm39) |
A1012V |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,369,126 (GRCm39) |
T149I |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,791,873 (GRCm39) |
S380T |
possibly 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 |
|
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 |
|
|
R9787:Stau2
|
UTSW |
1 |
16,530,595 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCGTTGGCACATCACTG -3'
(R):5'- CCTATGGAAGCCTAAATGTTGGG -3'
Sequencing Primer
(F):5'- ATCACTGTGGCACATCACTG -3'
(R):5'- GCCTAAATGTTGGGTCCATTTTACAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation