Incidental Mutation 'R4431:Strn'
ID |
328635 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strn
|
Ensembl Gene |
ENSMUSG00000024077 |
Gene Name |
striatin, calmodulin binding protein |
Synonyms |
|
MMRRC Submission |
041146-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R4431 (G1)
|
Quality Score |
118 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79043891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 9
(V9A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000145910]
|
AlphaFold |
O55106 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145910
AA Change: V9A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120830 Gene: ENSMUSG00000024077 AA Change: V9A
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 |
|
Meta Mutation Damage Score |
0.1167 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (52/52) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
2510039O18Rik |
T |
C |
4: 148,026,022 (GRCm39) |
S181P |
probably benign |
Het |
4930522L14Rik |
A |
T |
5: 109,884,440 (GRCm39) |
C473S |
possibly damaging |
Het |
4930523C07Rik |
A |
T |
1: 159,872,149 (GRCm39) |
|
noncoding transcript |
Het |
Aak1 |
A |
G |
6: 86,963,300 (GRCm39) |
K910R |
unknown |
Het |
Abca2 |
A |
G |
2: 25,332,864 (GRCm39) |
D1521G |
probably benign |
Het |
Adamts20 |
C |
A |
15: 94,241,924 (GRCm39) |
D695Y |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,104,905 (GRCm39) |
N533S |
probably damaging |
Het |
Bspry |
T |
A |
4: 62,400,904 (GRCm39) |
I132N |
possibly damaging |
Het |
Cfap300 |
A |
G |
9: 8,027,178 (GRCm39) |
V120A |
probably damaging |
Het |
Cfh |
T |
C |
1: 140,064,004 (GRCm39) |
Y424C |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,085,709 (GRCm39) |
R1642G |
possibly damaging |
Het |
Chrm2 |
A |
G |
6: 36,501,097 (GRCm39) |
D318G |
probably benign |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fbxo42 |
C |
A |
4: 140,927,861 (GRCm39) |
R714S |
probably damaging |
Het |
Fmo1 |
G |
A |
1: 162,661,281 (GRCm39) |
A334V |
possibly damaging |
Het |
Gpr68 |
A |
T |
12: 100,865,650 (GRCm39) |
|
probably benign |
Het |
Gramd4 |
A |
G |
15: 86,014,361 (GRCm39) |
K345R |
probably damaging |
Het |
Gtpbp1 |
T |
G |
15: 79,600,398 (GRCm39) |
S444A |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,808,242 (GRCm39) |
Y207H |
probably damaging |
Het |
Kat2b-ps |
A |
T |
5: 93,540,443 (GRCm39) |
|
noncoding transcript |
Het |
Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,097,274 (GRCm39) |
I1590T |
probably damaging |
Het |
Lhfpl4 |
A |
G |
6: 113,170,805 (GRCm39) |
I127T |
possibly damaging |
Het |
Lrrc71 |
A |
G |
3: 87,650,143 (GRCm39) |
S286P |
possibly damaging |
Het |
Man1c1 |
A |
T |
4: 134,430,329 (GRCm39) |
V151D |
probably damaging |
Het |
Mipol1 |
G |
A |
12: 57,350,310 (GRCm39) |
R36Q |
possibly damaging |
Het |
Nuggc |
T |
A |
14: 65,848,659 (GRCm39) |
W187R |
probably benign |
Het |
Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,593,538 (GRCm39) |
T1525I |
probably damaging |
Het |
Pomp |
A |
G |
5: 147,812,289 (GRCm39) |
E125G |
probably damaging |
Het |
Ptar1 |
G |
T |
19: 23,671,695 (GRCm39) |
G33C |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,235,355 (GRCm39) |
S335P |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
Shank1 |
C |
T |
7: 43,969,076 (GRCm39) |
R324* |
probably null |
Het |
Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
Slc12a9 |
G |
A |
5: 137,319,775 (GRCm39) |
P580L |
probably benign |
Het |
Spz1 |
A |
G |
13: 92,711,837 (GRCm39) |
L213P |
probably damaging |
Het |
Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
Trf |
T |
C |
9: 103,089,075 (GRCm39) |
N243S |
possibly damaging |
Het |
Ttc3 |
T |
C |
16: 94,211,817 (GRCm39) |
|
probably null |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vps13b |
A |
C |
15: 35,770,899 (GRCm39) |
Q2114P |
probably damaging |
Het |
Wdfy1 |
T |
A |
1: 79,691,583 (GRCm39) |
R275* |
probably null |
Het |
Wnt2b |
A |
G |
3: 104,860,256 (GRCm39) |
L217S |
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 |
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 |
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'- ATTCTGGAAGTGATGGGCGC -3'
(R):5'- ACTACATTTCCCGGCAAGCC -3'
Sequencing Primer
(F):5'- GAGGGTCTTTACCTGCAGCTC -3'
(R):5'- AGTTGACCCACTTCCCGG -3'
|
Posted On |
2015-07-21 |