Incidental Mutation 'IGL02165:Strn'
| ID |
282639 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Strn
|
| Ensembl Gene |
ENSMUSG00000024077 |
| Gene Name |
striatin, calmodulin binding protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
IGL02165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78995049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 2
(W2R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
| AlphaFold |
O55106 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024881
AA Change: W2R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: W2R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
276 |
N/A |
INTRINSIC |
|
WD40
|
299 |
338 |
6.04e-8 |
SMART |
|
WD40
|
352 |
391 |
2.42e-7 |
SMART |
|
WD40
|
405 |
444 |
1.21e-7 |
SMART |
|
WD40
|
493 |
539 |
1.28e1 |
SMART |
|
WD40
|
542 |
581 |
4.4e-10 |
SMART |
|
WD40
|
584 |
627 |
2.48e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145480
|
| SMART Domains |
Protein: ENSMUSP00000117663
Gene: ENSMUSG00000024077
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145910
AA Change: W155R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: W155R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
45 |
N/A |
INTRINSIC |
|
Pfam:Striatin
|
48 |
177 |
4.2e-50 |
PFAM |
|
low complexity region
|
238 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
429 |
N/A |
INTRINSIC |
|
WD40
|
452 |
491 |
6.04e-8 |
SMART |
|
WD40
|
505 |
544 |
2.42e-7 |
SMART |
|
WD40
|
558 |
597 |
1.21e-7 |
SMART |
|
WD40
|
646 |
692 |
1.28e1 |
SMART |
|
WD40
|
695 |
734 |
4.4e-10 |
SMART |
|
WD40
|
737 |
780 |
2.48e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit increased blood pressure and circulating aldosterone when fed a liberal salt diet. No mice could be generated that were homozygous for the allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,904,586 (GRCm39) |
M199K |
possibly damaging |
Het |
| Abo |
C |
A |
2: 26,733,441 (GRCm39) |
V255L |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,115,982 (GRCm39) |
M344K |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,003,653 (GRCm39) |
I118V |
probably benign |
Het |
| Ap5m1 |
A |
T |
14: 49,316,185 (GRCm39) |
I252F |
possibly damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,252,828 (GRCm39) |
E706G |
probably damaging |
Het |
| Baz2a |
C |
A |
10: 127,955,218 (GRCm39) |
A775E |
probably benign |
Het |
| C3 |
A |
T |
17: 57,532,092 (GRCm39) |
F210I |
probably benign |
Het |
| Casq1 |
A |
G |
1: 172,040,948 (GRCm39) |
L280P |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,229,598 (GRCm39) |
F919L |
probably damaging |
Het |
| Commd1b |
A |
T |
11: 22,932,072 (GRCm39) |
|
probably benign |
Het |
| Dclre1c |
T |
A |
2: 3,451,418 (GRCm39) |
|
probably benign |
Het |
| Dsc3 |
T |
G |
18: 20,116,709 (GRCm39) |
M276L |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,922,172 (GRCm39) |
T430A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
A |
15: 78,557,618 (GRCm39) |
T310S |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,525,592 (GRCm39) |
K1472R |
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,847,099 (GRCm39) |
D8G |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,888,877 (GRCm39) |
M159K |
probably benign |
Het |
| Hars2 |
T |
A |
18: 36,916,447 (GRCm39) |
M1K |
probably null |
Het |
| Hk1 |
T |
C |
10: 62,117,667 (GRCm39) |
T619A |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,455,067 (GRCm39) |
V53M |
probably damaging |
Het |
| Ippk |
T |
A |
13: 49,600,011 (GRCm39) |
V339D |
possibly damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,387,035 (GRCm39) |
N875K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,392,251 (GRCm39) |
V991E |
probably damaging |
Het |
| Larp6 |
A |
G |
9: 60,620,595 (GRCm39) |
E36G |
probably benign |
Het |
| Lonp2 |
A |
T |
8: 87,435,654 (GRCm39) |
D210V |
probably damaging |
Het |
| Lrrc4c |
G |
A |
2: 97,459,378 (GRCm39) |
M1I |
probably null |
Het |
| Mmp2 |
A |
G |
8: 93,559,847 (GRCm39) |
K270R |
probably null |
Het |
| Nexmif |
C |
T |
X: 103,128,360 (GRCm39) |
V1186I |
probably benign |
Het |
| Or11g2 |
A |
G |
14: 50,856,468 (GRCm39) |
Y263C |
probably damaging |
Het |
| Or1x2 |
A |
T |
11: 50,918,470 (GRCm39) |
I214F |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,446,503 (GRCm39) |
L763P |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,187,484 (GRCm39) |
F644L |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,104,652 (GRCm39) |
S1377P |
probably damaging |
Het |
| Rps18-ps6 |
T |
G |
13: 97,896,648 (GRCm39) |
K150T |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,061,165 (GRCm39) |
D1111G |
probably benign |
Het |
| Slc27a5 |
A |
G |
7: 12,728,875 (GRCm39) |
V130A |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,908,022 (GRCm39) |
R174G |
probably benign |
Het |
| Slitrk6 |
G |
A |
14: 110,989,249 (GRCm39) |
P153S |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,642,511 (GRCm39) |
I388T |
probably benign |
Het |
| Star |
A |
T |
8: 26,302,843 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tnmd |
T |
C |
X: 132,763,701 (GRCm39) |
S172P |
probably damaging |
Het |
| Togaram2 |
A |
G |
17: 72,004,861 (GRCm39) |
K305R |
probably benign |
Het |
| Trhde |
C |
A |
10: 114,428,066 (GRCm39) |
W410L |
probably damaging |
Het |
| Trim5 |
C |
T |
7: 103,928,566 (GRCm39) |
R125Q |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Vmn1r80 |
T |
A |
7: 11,927,379 (GRCm39) |
M163K |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,166,117 (GRCm39) |
|
probably benign |
Het |
| Zfp277 |
T |
A |
12: 40,365,802 (GRCm39) |
I430F |
possibly damaging |
Het |
| Zfp566 |
A |
T |
7: 29,777,255 (GRCm39) |
C309S |
probably damaging |
Het |
| Zfp740 |
T |
G |
15: 102,121,109 (GRCm39) |
F141V |
possibly damaging |
Het |
| Zfp87 |
T |
A |
13: 67,665,989 (GRCm39) |
I158F |
probably damaging |
Het |
| Zswim3 |
C |
A |
2: 164,663,035 (GRCm39) |
A505D |
possibly damaging |
Het |
|
| Other mutations in Strn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00722:Strn
|
APN |
17 |
78,999,849 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02424:Strn
|
APN |
17 |
78,991,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02473:Strn
|
APN |
17 |
78,991,722 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03306:Strn
|
APN |
17 |
78,974,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0053:Strn
|
UTSW |
17 |
78,964,363 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0053:Strn
|
UTSW |
17 |
78,964,363 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0165:Strn
|
UTSW |
17 |
78,984,803 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1156:Strn
|
UTSW |
17 |
78,964,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1191:Strn
|
UTSW |
17 |
78,999,855 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1256:Strn
|
UTSW |
17 |
78,972,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1700:Strn
|
UTSW |
17 |
78,999,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Strn
|
UTSW |
17 |
78,984,755 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1897:Strn
|
UTSW |
17 |
78,990,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1912:Strn
|
UTSW |
17 |
78,991,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Strn
|
UTSW |
17 |
78,999,928 (GRCm39) |
splice site |
probably null |
|
|
R2357:Strn
|
UTSW |
17 |
78,963,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Strn
|
UTSW |
17 |
78,990,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3693:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3694:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3695:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3941:Strn
|
UTSW |
17 |
78,965,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4431:Strn
|
UTSW |
17 |
79,043,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Strn
|
UTSW |
17 |
78,984,801 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4678:Strn
|
UTSW |
17 |
78,984,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Strn
|
UTSW |
17 |
78,965,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4947:Strn
|
UTSW |
17 |
78,969,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5470:Strn
|
UTSW |
17 |
78,964,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5710:Strn
|
UTSW |
17 |
78,995,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Strn
|
UTSW |
17 |
78,977,276 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6173:Strn
|
UTSW |
17 |
79,008,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Strn
|
UTSW |
17 |
78,977,787 (GRCm39) |
intron |
probably benign |
|
|
R6846:Strn
|
UTSW |
17 |
79,043,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7716:Strn
|
UTSW |
17 |
78,963,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7746:Strn
|
UTSW |
17 |
78,984,801 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7950:Strn
|
UTSW |
17 |
78,977,852 (GRCm39) |
missense |
|
|
|
R7997:Strn
|
UTSW |
17 |
78,991,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8344:Strn
|
UTSW |
17 |
78,980,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Strn
|
UTSW |
17 |
79,043,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9523:Strn
|
UTSW |
17 |
78,967,575 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9538:Strn
|
UTSW |
17 |
78,972,219 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
RF006:Strn
|
UTSW |
17 |
78,984,700 (GRCm39) |
frame shift |
probably null |
|
|
RF008:Strn
|
UTSW |
17 |
78,984,716 (GRCm39) |
frame shift |
probably null |
|
|
RF017:Strn
|
UTSW |
17 |
78,984,717 (GRCm39) |
frame shift |
probably null |
|
|
RF018:Strn
|
UTSW |
17 |
78,984,712 (GRCm39) |
frame shift |
probably null |
|
|
RF031:Strn
|
UTSW |
17 |
78,984,706 (GRCm39) |
frame shift |
probably null |
|
|
RF035:Strn
|
UTSW |
17 |
78,984,714 (GRCm39) |
frame shift |
probably null |
|
|
RF036:Strn
|
UTSW |
17 |
78,984,706 (GRCm39) |
frame shift |
probably null |
|
|
RF038:Strn
|
UTSW |
17 |
78,984,711 (GRCm39) |
frame shift |
probably null |
|
|
RF039:Strn
|
UTSW |
17 |
78,984,707 (GRCm39) |
frame shift |
probably null |
|
|
RF044:Strn
|
UTSW |
17 |
78,984,717 (GRCm39) |
frame shift |
probably null |
|
|
RF045:Strn
|
UTSW |
17 |
78,984,711 (GRCm39) |
frame shift |
probably null |
|
|
RF047:Strn
|
UTSW |
17 |
78,984,703 (GRCm39) |
frame shift |
probably null |
|
|
RF047:Strn
|
UTSW |
17 |
78,984,699 (GRCm39) |
frame shift |
probably null |
|
|
RF048:Strn
|
UTSW |
17 |
78,984,716 (GRCm39) |
frame shift |
probably null |
|
|
X0022:Strn
|
UTSW |
17 |
79,008,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation