Incidental Mutation 'R7317:Stau2'
ID |
563439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stau2
|
Ensembl Gene |
ENSMUSG00000025920 |
Gene Name |
staufen double-stranded RNA binding protein 2 |
Synonyms |
|
MMRRC Submission |
045369-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7317 (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 A
at 16530553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 122
(H122L)
|
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: H122L
|
SMART Domains |
Protein: ENSMUSP00000111016 Gene: ENSMUSG00000025920 AA Change: H122L
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: H122L
|
SMART Domains |
Protein: ENSMUSP00000119130 Gene: ENSMUSG00000025920 AA Change: H122L
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: H90L
|
SMART Domains |
Protein: ENSMUSP00000115041 Gene: ENSMUSG00000025920 AA Change: H90L
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: 99.6%
- 20x: 98.9%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
G |
A |
5: 8,140,202 (GRCm39) |
P832L |
probably benign |
Het |
Adamts17 |
C |
T |
7: 66,490,304 (GRCm39) |
R129* |
probably null |
Het |
Alg5 |
G |
T |
3: 54,656,752 (GRCm39) |
R321L |
probably benign |
Het |
Amotl1 |
T |
A |
9: 14,486,515 (GRCm39) |
T460S |
probably benign |
Het |
Ankrd50 |
T |
C |
3: 38,537,332 (GRCm39) |
E7G |
possibly damaging |
Het |
Ap3b2 |
T |
C |
7: 81,110,776 (GRCm39) |
T1000A |
unknown |
Het |
Arap2 |
G |
A |
5: 62,807,067 (GRCm39) |
T1200M |
probably damaging |
Het |
Asb2 |
A |
T |
12: 103,299,616 (GRCm39) |
I272N |
probably damaging |
Het |
Bicd2 |
T |
C |
13: 49,531,784 (GRCm39) |
L342P |
probably damaging |
Het |
C1qtnf6 |
T |
A |
15: 78,409,206 (GRCm39) |
I214F |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,364,534 (GRCm39) |
H587Q |
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,450,502 (GRCm39) |
I1010F |
possibly damaging |
Het |
Chd1 |
A |
T |
17: 15,962,536 (GRCm39) |
K764N |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,556,530 (GRCm39) |
D956G |
possibly damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,770,730 (GRCm39) |
D243G |
probably benign |
Het |
Ercc4 |
T |
C |
16: 12,939,977 (GRCm39) |
V169A |
probably benign |
Het |
Erich6 |
T |
C |
3: 58,544,305 (GRCm39) |
E94G |
probably benign |
Het |
Fubp3 |
A |
G |
2: 31,494,624 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
C |
T |
17: 37,380,305 (GRCm39) |
T736I |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,963,072 (GRCm39) |
V200A |
probably benign |
Het |
Gm14496 |
T |
A |
2: 181,637,613 (GRCm39) |
M229K |
possibly damaging |
Het |
Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,040,521 (GRCm39) |
T596A |
probably benign |
Het |
H1f4 |
A |
G |
13: 23,806,350 (GRCm39) |
I44T |
probably damaging |
Het |
Htr5b |
T |
A |
1: 121,438,157 (GRCm39) |
Y358F |
probably damaging |
Het |
Il18r1 |
A |
T |
1: 40,513,992 (GRCm39) |
Y66F |
possibly damaging |
Het |
Il18rap |
A |
G |
1: 40,564,536 (GRCm39) |
T189A |
probably damaging |
Het |
Irag2 |
G |
A |
6: 145,104,424 (GRCm39) |
G164R |
possibly damaging |
Het |
Itgav |
G |
T |
2: 83,625,327 (GRCm39) |
A771S |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,705,518 (GRCm39) |
V324A |
possibly damaging |
Het |
Krtap15-1 |
T |
C |
16: 88,626,193 (GRCm39) |
C87R |
probably benign |
Het |
Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,169,755 (GRCm39) |
D1642G |
probably benign |
Het |
Med15 |
G |
T |
16: 17,489,507 (GRCm39) |
Q356K |
unknown |
Het |
Mmp3 |
A |
G |
9: 7,446,937 (GRCm39) |
Y39C |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,849,851 (GRCm39) |
S1149P |
probably damaging |
Het |
Msh3 |
A |
G |
13: 92,422,512 (GRCm39) |
I548T |
probably damaging |
Het |
Noc2l |
T |
A |
4: 156,323,673 (GRCm39) |
V179E |
possibly damaging |
Het |
Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
Or5k3 |
T |
G |
16: 58,969,684 (GRCm39) |
M157R |
possibly damaging |
Het |
Or5p64 |
G |
T |
7: 107,854,425 (GRCm39) |
Q307K |
probably benign |
Het |
Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
Pcdhb10 |
A |
T |
18: 37,546,079 (GRCm39) |
Q385L |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,592,329 (GRCm39) |
K105R |
probably damaging |
Het |
Pex1 |
A |
T |
5: 3,668,875 (GRCm39) |
D582V |
probably damaging |
Het |
Pheta1 |
A |
T |
5: 121,991,336 (GRCm39) |
T233S |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,223,496 (GRCm39) |
|
probably null |
Het |
Pigw |
T |
C |
11: 84,768,066 (GRCm39) |
N421S |
probably benign |
Het |
Plek |
T |
C |
11: 16,944,739 (GRCm39) |
K97R |
probably benign |
Het |
R3hcc1l |
C |
T |
19: 42,571,979 (GRCm39) |
R753* |
probably null |
Het |
R3hdml |
G |
A |
2: 163,344,367 (GRCm39) |
W252* |
probably null |
Het |
Septin12 |
T |
C |
16: 4,809,599 (GRCm39) |
K238E |
probably damaging |
Het |
Sgce |
G |
A |
6: 4,691,615 (GRCm39) |
T320I |
probably benign |
Het |
Sidt2 |
A |
T |
9: 45,854,988 (GRCm39) |
C562* |
probably null |
Het |
Skint8 |
T |
C |
4: 111,796,717 (GRCm39) |
C274R |
possibly damaging |
Het |
Slc13a5 |
A |
T |
11: 72,135,953 (GRCm39) |
M529K |
probably damaging |
Het |
Smg8 |
T |
G |
11: 86,976,391 (GRCm39) |
S397R |
possibly damaging |
Het |
Spock3 |
G |
T |
8: 63,566,590 (GRCm39) |
R68L |
possibly damaging |
Het |
Tent5a |
G |
C |
9: 85,206,670 (GRCm39) |
A376G |
possibly damaging |
Het |
Tert |
G |
A |
13: 73,790,495 (GRCm39) |
R858H |
probably damaging |
Het |
Tgm3 |
G |
A |
2: 129,890,211 (GRCm39) |
R658Q |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,672,918 (GRCm39) |
I455T |
probably benign |
Het |
Tmtc4 |
G |
A |
14: 123,215,593 (GRCm39) |
P18S |
probably benign |
Het |
Tnc |
A |
G |
4: 63,890,959 (GRCm39) |
I1641T |
probably damaging |
Het |
Trav14-3 |
A |
T |
14: 54,000,951 (GRCm39) |
N54I |
probably damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,495,703 (GRCm39) |
M524K |
probably benign |
Het |
Unc93a |
A |
G |
17: 13,335,171 (GRCm39) |
F292L |
probably benign |
Het |
Uso1 |
A |
G |
5: 92,321,851 (GRCm39) |
N248S |
possibly damaging |
Het |
Usp5 |
A |
G |
6: 124,803,281 (GRCm39) |
L73P |
probably damaging |
Het |
Utp20 |
T |
A |
10: 88,598,797 (GRCm39) |
I60F |
possibly damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
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 |
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'- TAACTGCTACTAGGGTGCACCAG -3'
(R):5'- GTTGCCAAGCTGAATAGGCTC -3'
Sequencing Primer
(F):5'- GCAGTACTGATGATCCTAGGTTCAC -3'
(R):5'- GCCAAGCTGAATAGGCTCTTCTAAG -3'
|
Posted On |
2019-06-26 |