Incidental Mutation 'R1897:Strn'
ID |
212086 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strn
|
Ensembl Gene |
ENSMUSG00000024077 |
Gene Name |
striatin, calmodulin binding protein |
Synonyms |
|
MMRRC Submission |
039917-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R1897 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78990271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 82
(I82V)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
AlphaFold |
O55106 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024881
AA Change: I108V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000024881 Gene: ENSMUSG00000024077 AA Change: I108V
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
AA Change: I82V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000117663 Gene: ENSMUSG00000024077 AA Change: I82V
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 benign
Transcript: ENSMUST00000145910
AA Change: I261V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120830 Gene: ENSMUSG00000024077 AA Change: I261V
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 |
0.0583 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.8%
|
Validation Efficiency |
99% (72/73) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd6 |
A |
G |
1: 155,434,564 (GRCm39) |
S61G |
probably damaging |
Het |
Acot12 |
A |
G |
13: 91,932,516 (GRCm39) |
N504S |
probably benign |
Het |
Adcy3 |
C |
T |
12: 4,223,450 (GRCm39) |
|
probably benign |
Het |
Adcyap1r1 |
A |
T |
6: 55,456,179 (GRCm39) |
H168L |
probably damaging |
Het |
Adgrd1 |
A |
G |
5: 129,206,065 (GRCm39) |
E213G |
probably benign |
Het |
Aldh1l2 |
G |
T |
10: 83,338,389 (GRCm39) |
T510K |
probably damaging |
Het |
Apol7e |
A |
T |
15: 77,602,094 (GRCm39) |
M231L |
probably benign |
Het |
Asb1 |
C |
A |
1: 91,474,647 (GRCm39) |
|
probably null |
Het |
Atf7ip2 |
C |
T |
16: 10,028,948 (GRCm39) |
P160L |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,895,772 (GRCm39) |
L554P |
probably damaging |
Het |
Ccdc18 |
A |
T |
5: 108,343,908 (GRCm39) |
M884L |
probably benign |
Het |
Ccdc93 |
A |
G |
1: 121,418,941 (GRCm39) |
I499V |
probably benign |
Het |
Ccl20 |
A |
G |
1: 83,095,616 (GRCm39) |
D60G |
probably damaging |
Het |
Cdhr3 |
T |
C |
12: 33,095,192 (GRCm39) |
T626A |
possibly damaging |
Het |
Cep250 |
A |
G |
2: 155,818,015 (GRCm39) |
E789G |
probably damaging |
Het |
Cmpk2 |
T |
C |
12: 26,524,046 (GRCm39) |
L281P |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
Crocc |
G |
A |
4: 140,746,047 (GRCm39) |
R1691C |
probably damaging |
Het |
Csf1 |
C |
T |
3: 107,655,595 (GRCm39) |
V90M |
probably damaging |
Het |
Cul2 |
T |
G |
18: 3,414,164 (GRCm39) |
M86R |
probably benign |
Het |
Dbndd2 |
T |
C |
2: 164,330,584 (GRCm39) |
F79S |
probably damaging |
Het |
Dkk1 |
G |
T |
19: 30,526,678 (GRCm39) |
N34K |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 73,158,745 (GRCm39) |
L619F |
probably benign |
Het |
Eif2b5 |
T |
C |
16: 20,325,787 (GRCm39) |
V588A |
probably damaging |
Het |
Elf3 |
A |
T |
1: 135,184,875 (GRCm39) |
Y104N |
probably damaging |
Het |
Fahd2a |
T |
C |
2: 127,278,530 (GRCm39) |
D272G |
probably damaging |
Het |
Fbxw15 |
A |
T |
9: 109,387,271 (GRCm39) |
C188* |
probably null |
Het |
Fbxw8 |
T |
C |
5: 118,266,941 (GRCm39) |
Y174C |
probably benign |
Het |
Gnl1 |
C |
A |
17: 36,299,584 (GRCm39) |
P585Q |
possibly damaging |
Het |
Greb1l |
T |
C |
18: 10,498,992 (GRCm39) |
S292P |
probably benign |
Het |
Gsk3b |
G |
A |
16: 38,037,446 (GRCm39) |
|
probably null |
Het |
Hcls1 |
C |
T |
16: 36,783,005 (GRCm39) |
P452L |
probably damaging |
Het |
Hdlbp |
A |
T |
1: 93,350,007 (GRCm39) |
|
probably benign |
Het |
Hecw1 |
A |
G |
13: 14,552,525 (GRCm39) |
S25P |
probably damaging |
Het |
Hells |
T |
C |
19: 38,928,928 (GRCm39) |
V100A |
probably benign |
Het |
Isl1 |
C |
T |
13: 116,439,866 (GRCm39) |
E161K |
probably benign |
Het |
Klra9 |
G |
T |
6: 130,162,555 (GRCm39) |
N160K |
possibly damaging |
Het |
Lama4 |
T |
C |
10: 38,936,182 (GRCm39) |
V619A |
probably damaging |
Het |
Mpc1 |
G |
A |
17: 8,515,710 (GRCm39) |
R134Q |
possibly damaging |
Het |
Myo5c |
A |
T |
9: 75,199,523 (GRCm39) |
N1377I |
probably benign |
Het |
Myrf |
T |
C |
19: 10,195,596 (GRCm39) |
I607V |
probably benign |
Het |
Or2g1 |
T |
G |
17: 38,107,075 (GRCm39) |
S247A |
probably benign |
Het |
Or8g53 |
A |
T |
9: 39,683,361 (GRCm39) |
I245K |
probably damaging |
Het |
Pik3c2b |
A |
G |
1: 132,994,654 (GRCm39) |
D206G |
possibly damaging |
Het |
Pipox |
A |
G |
11: 77,773,568 (GRCm39) |
Y228H |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,610,131 (GRCm39) |
V401D |
possibly damaging |
Het |
Plod1 |
C |
T |
4: 148,010,657 (GRCm39) |
E265K |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,646,664 (GRCm39) |
|
probably null |
Het |
Qars1 |
C |
T |
9: 108,391,282 (GRCm39) |
Q7* |
probably null |
Het |
Rpap2 |
T |
A |
5: 107,780,961 (GRCm39) |
V479E |
possibly damaging |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
A |
G |
4: 43,421,749 (GRCm39) |
Y723C |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,765,818 (GRCm39) |
M1306K |
probably benign |
Het |
Sesn3 |
A |
C |
9: 14,219,941 (GRCm39) |
Y110S |
probably damaging |
Het |
Sgce |
C |
T |
6: 4,691,511 (GRCm39) |
V319I |
probably benign |
Het |
Slc15a5 |
G |
T |
6: 138,056,762 (GRCm39) |
F51L |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,395,765 (GRCm39) |
C723S |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,027,862 (GRCm39) |
|
probably null |
Het |
Snx2 |
T |
A |
18: 53,330,950 (GRCm39) |
D138E |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,729,740 (GRCm39) |
L126* |
probably null |
Het |
Stam |
T |
C |
2: 14,133,837 (GRCm39) |
S195P |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,072,412 (GRCm39) |
C202* |
probably null |
Het |
Tecpr2 |
A |
G |
12: 110,899,681 (GRCm39) |
D683G |
probably benign |
Het |
Tfec |
A |
G |
6: 16,835,307 (GRCm39) |
V157A |
probably damaging |
Het |
Tff1 |
T |
G |
17: 31,383,912 (GRCm39) |
Q28P |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,288,314 (GRCm39) |
Y396H |
probably damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,307,829 (GRCm39) |
M803K |
probably damaging |
Het |
Vmn2r90 |
A |
G |
17: 17,953,566 (GRCm39) |
K577E |
probably damaging |
Het |
Vrk1 |
T |
C |
12: 106,002,799 (GRCm39) |
|
probably benign |
Het |
Wdr20 |
A |
G |
12: 110,760,157 (GRCm39) |
T348A |
probably benign |
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 |
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'- CATGGAGAGCTGCCTTCTCTAG -3'
(R):5'- AGGTGCTAAAACTTGTCAACAG -3'
Sequencing Primer
(F):5'- GCCTTCTCTAGTGAATTGACAGAGTC -3'
(R):5'- GTGCTAAAACTTGTCAACAGTTCATG -3'
|
Posted On |
2014-06-30 |