Incidental Mutation 'R1256:Strn'
ID |
151475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strn
|
Ensembl Gene |
ENSMUSG00000024077 |
Gene Name |
striatin, calmodulin binding protein |
Synonyms |
|
MMRRC Submission |
039323-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R1256 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to C
at 78972046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
AlphaFold |
O55106 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024881
|
SMART Domains |
Protein: ENSMUSP00000024881 Gene: ENSMUSG00000024077
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 null
Transcript: ENSMUST00000145910
|
SMART Domains |
Protein: ENSMUSP00000120830 Gene: ENSMUSG00000024077
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
Brat1 |
A |
G |
5: 140,695,962 (GRCm39) |
Q66R |
possibly damaging |
Het |
Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,262 (GRCm39) |
H308R |
probably damaging |
Het |
Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
Nif3l1 |
T |
A |
1: 58,494,808 (GRCm39) |
V259D |
probably damaging |
Het |
Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
Pepd |
A |
C |
7: 34,620,917 (GRCm39) |
T61P |
possibly damaging |
Het |
Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
Psip1 |
A |
G |
4: 83,392,604 (GRCm39) |
S102P |
probably benign |
Het |
Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
Spn |
T |
C |
7: 126,735,445 (GRCm39) |
K354R |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
Txnl4a |
A |
G |
18: 80,250,487 (GRCm39) |
I28V |
probably benign |
Het |
Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
probably 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 |
IGL02165:Strn
|
APN |
17 |
78,995,049 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCATTACAGACAGAGGCCCCAC -3'
(R):5'- TTCTCCCATGAGAACTGCTGCCAC -3'
Sequencing Primer
(F):5'- GACAGCCTCGTGAAATACTTCTG -3'
(R):5'- AGAACTGCTGCCACATGTTG -3'
|
Posted On |
2014-01-29 |