Incidental Mutation 'R5470:Strn'
ID |
433500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strn
|
Ensembl Gene |
ENSMUSG00000024077 |
Gene Name |
striatin, calmodulin binding protein |
Synonyms |
|
MMRRC Submission |
043031-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R5470 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78964374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 530
(H530Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
AlphaFold |
O55106 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024881
AA Change: H530Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000024881 Gene: ENSMUSG00000024077 AA Change: H530Q
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: ENSMUST00000145910
AA Change: H683Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000120830 Gene: ENSMUSG00000024077 AA Change: H683Q
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 |
0.1868 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
Validation Efficiency |
99% (79/80) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
A |
12: 80,215,715 (GRCm39) |
I813F |
probably damaging |
Het |
Aqr |
G |
A |
2: 113,988,056 (GRCm39) |
L169F |
probably damaging |
Het |
Atp6v1d |
G |
A |
12: 78,892,058 (GRCm39) |
R182C |
probably benign |
Het |
Bcl2l13 |
G |
T |
6: 120,839,833 (GRCm39) |
A44S |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,039,368 (GRCm39) |
K389E |
possibly damaging |
Het |
C530025M09Rik |
G |
A |
2: 149,673,045 (GRCm39) |
|
probably benign |
Het |
Ccdc7b |
T |
A |
8: 129,799,081 (GRCm39) |
S53T |
possibly damaging |
Het |
Chd8 |
A |
G |
14: 52,450,066 (GRCm39) |
F154L |
probably damaging |
Het |
Cop1 |
A |
T |
1: 159,094,430 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
G |
19: 39,501,974 (GRCm39) |
K121R |
possibly damaging |
Het |
Cyp3a57 |
A |
G |
5: 145,309,429 (GRCm39) |
M256V |
probably benign |
Het |
Deup1 |
T |
C |
9: 15,493,916 (GRCm39) |
|
probably null |
Het |
Dnah10 |
A |
G |
5: 124,830,232 (GRCm39) |
N709D |
probably benign |
Het |
Dthd1 |
A |
G |
5: 62,976,109 (GRCm39) |
Y261C |
probably damaging |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
En2 |
C |
T |
5: 28,371,922 (GRCm39) |
T133M |
probably benign |
Het |
Endou |
A |
G |
15: 97,616,836 (GRCm39) |
F229S |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,534,791 (GRCm39) |
H79L |
probably damaging |
Het |
Fah |
C |
T |
7: 84,242,393 (GRCm39) |
|
probably null |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fignl1 |
T |
A |
11: 11,752,640 (GRCm39) |
E138D |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,812,008 (GRCm39) |
L311P |
possibly damaging |
Het |
Gdf9 |
T |
A |
11: 53,327,581 (GRCm39) |
V179E |
probably benign |
Het |
Gm14129 |
G |
T |
2: 148,769,737 (GRCm39) |
|
noncoding transcript |
Het |
Gorab |
A |
G |
1: 163,220,078 (GRCm39) |
I188T |
probably damaging |
Het |
Gpr152 |
G |
A |
19: 4,193,128 (GRCm39) |
C223Y |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,129,008 (GRCm39) |
|
probably null |
Het |
Hsd17b3 |
G |
T |
13: 64,221,713 (GRCm39) |
T104N |
probably damaging |
Het |
Il6ra |
C |
T |
3: 89,793,302 (GRCm39) |
V283M |
probably benign |
Het |
Klk1b16 |
A |
T |
7: 43,786,755 (GRCm39) |
I5F |
probably damaging |
Het |
Krt74 |
G |
A |
15: 101,662,900 (GRCm39) |
|
noncoding transcript |
Het |
Lrch3 |
T |
A |
16: 32,818,960 (GRCm39) |
N650K |
probably damaging |
Het |
Ly96 |
A |
T |
1: 16,779,710 (GRCm39) |
E126D |
probably benign |
Het |
Mgarp |
C |
A |
3: 51,298,706 (GRCm39) |
R66L |
possibly damaging |
Het |
Naalad2 |
T |
A |
9: 18,242,147 (GRCm39) |
T586S |
probably damaging |
Het |
Ndufaf3 |
T |
C |
9: 108,443,643 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,139,450 (GRCm39) |
M3055T |
possibly damaging |
Het |
Neo1 |
G |
T |
9: 58,838,350 (GRCm39) |
A478D |
probably damaging |
Het |
Nmrk1 |
A |
T |
19: 18,617,248 (GRCm39) |
|
probably null |
Het |
Nsl1 |
T |
C |
1: 190,812,737 (GRCm39) |
M184T |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,657,705 (GRCm39) |
N410S |
probably benign |
Het |
Opalin |
A |
G |
19: 41,054,970 (GRCm39) |
S75P |
probably benign |
Het |
Or1e17 |
T |
C |
11: 73,831,696 (GRCm39) |
I208T |
probably benign |
Het |
Or3a4 |
A |
G |
11: 73,944,733 (GRCm39) |
I284T |
possibly damaging |
Het |
Or51ag1 |
T |
G |
7: 103,155,716 (GRCm39) |
I146L |
probably benign |
Het |
Palb2 |
C |
A |
7: 121,713,574 (GRCm39) |
C903F |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,740,720 (GRCm39) |
W989R |
probably damaging |
Het |
Pfkfb4 |
T |
A |
9: 108,856,661 (GRCm39) |
I389N |
probably damaging |
Het |
Pitrm1 |
T |
C |
13: 6,603,306 (GRCm39) |
C119R |
probably benign |
Het |
Plekha1 |
T |
C |
7: 130,510,106 (GRCm39) |
V45A |
probably damaging |
Het |
Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
Rcan2 |
A |
G |
17: 44,147,174 (GRCm39) |
D4G |
probably benign |
Het |
Slc12a1 |
A |
T |
2: 125,012,634 (GRCm39) |
T299S |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,138,880 (GRCm39) |
H527Q |
probably benign |
Het |
Slc22a8 |
G |
A |
19: 8,585,234 (GRCm39) |
R261H |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slco4a1 |
T |
C |
2: 180,115,907 (GRCm39) |
F681S |
probably benign |
Het |
Sorcs2 |
A |
T |
5: 36,188,527 (GRCm39) |
H860Q |
probably benign |
Het |
Tex14 |
A |
G |
11: 87,442,430 (GRCm39) |
R179G |
probably damaging |
Het |
Tjp3 |
T |
C |
10: 81,115,381 (GRCm39) |
D350G |
probably benign |
Het |
Tnrc6b |
G |
T |
15: 80,800,912 (GRCm39) |
R1406L |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,935,947 (GRCm39) |
D2666G |
probably null |
Het |
Ttn |
A |
T |
2: 76,560,208 (GRCm39) |
Y27652N |
probably benign |
Het |
Utp20 |
T |
A |
10: 88,653,758 (GRCm39) |
E287D |
probably benign |
Het |
Vmn1r45 |
T |
C |
6: 89,910,698 (GRCm39) |
I91V |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,046,981 (GRCm39) |
K76* |
probably null |
Het |
Zfp689 |
C |
T |
7: 127,043,425 (GRCm39) |
A402T |
probably damaging |
Het |
Zfpm1 |
A |
G |
8: 123,060,532 (GRCm39) |
E207G |
probably damaging |
Het |
Zhx2 |
G |
T |
15: 57,686,470 (GRCm39) |
R613L |
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 |
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 |
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 |
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'- GCTTCCATGACTACTCCGTGAC -3'
(R):5'- TCGTGGTTTAGCTCAGGTAAC -3'
Sequencing Primer
(F):5'- ATGACTACTCCGTGACCGTGG -3'
(R):5'- CTTCCTGCCAAATAAACAGA -3'
|
Posted On |
2016-10-06 |