Incidental Mutation 'R2357:Strn'
| ID |
247479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn
|
| Ensembl Gene |
ENSMUSG00000024077 |
| Gene Name |
striatin, calmodulin binding protein |
| Synonyms |
|
| MMRRC Submission |
040339-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R2357 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78963028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 745
(T745I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
| AlphaFold |
O55106 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024881
AA Change: T592I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: T592I
| 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 damaging
Transcript: ENSMUST00000145910
AA Change: T745I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: T745I
| 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 |
0.2242 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,569,844 (GRCm39) |
T520K |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,247,336 (GRCm39) |
L2361P |
probably damaging |
Het |
| Acsl6 |
T |
A |
11: 54,218,106 (GRCm39) |
M248K |
probably damaging |
Het |
| Adam11 |
G |
T |
11: 102,665,334 (GRCm39) |
V467L |
probably benign |
Het |
| Afap1 |
C |
T |
5: 36,141,618 (GRCm39) |
H501Y |
probably damaging |
Het |
| Ankrd28 |
A |
T |
14: 31,486,251 (GRCm39) |
Y22* |
probably null |
Het |
| Ccdc124 |
A |
T |
8: 71,321,179 (GRCm39) |
L187Q |
probably damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,894,792 (GRCm39) |
S324N |
possibly damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,950 (GRCm39) |
K134* |
probably null |
Het |
| Cnpy3 |
G |
T |
17: 47,062,909 (GRCm39) |
S47R |
probably damaging |
Het |
| Cpne8 |
A |
T |
15: 90,503,877 (GRCm39) |
L96Q |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,533,396 (GRCm39) |
Y212N |
probably damaging |
Het |
| Cryba1 |
A |
T |
11: 77,613,427 (GRCm39) |
|
probably benign |
Het |
| Cyc1 |
A |
G |
15: 76,229,766 (GRCm39) |
M288V |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,990,846 (GRCm39) |
D3296E |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 31,093,909 (GRCm39) |
T4668A |
probably benign |
Het |
| Dnajb6 |
T |
A |
5: 29,958,638 (GRCm39) |
F113I |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,081,053 (GRCm39) |
I2881T |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,354 (GRCm39) |
S179P |
probably benign |
Het |
| Esco2 |
C |
A |
14: 66,064,000 (GRCm39) |
A395S |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,113 (GRCm39) |
|
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,321 (GRCm39) |
T218A |
possibly damaging |
Het |
| Gde1 |
A |
T |
7: 118,290,814 (GRCm39) |
F170L |
probably benign |
Het |
| Ggt5 |
A |
C |
10: 75,445,075 (GRCm39) |
I361L |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,350,514 (GRCm39) |
T683M |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,732,370 (GRCm39) |
Q539R |
probably damaging |
Het |
| Grm2 |
A |
G |
9: 106,524,780 (GRCm39) |
V645A |
probably damaging |
Het |
| Gtf2h4 |
A |
T |
17: 35,978,891 (GRCm39) |
V408D |
probably damaging |
Het |
| Gucy1a2 |
A |
T |
9: 3,797,299 (GRCm39) |
H583L |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,019,043 (GRCm39) |
A1938V |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,841,679 (GRCm39) |
Y56H |
probably damaging |
Het |
| Il17re |
A |
G |
6: 113,445,431 (GRCm39) |
I381V |
possibly damaging |
Het |
| Klrd1 |
T |
A |
6: 129,573,872 (GRCm39) |
*71K |
probably null |
Het |
| Kng1 |
A |
T |
16: 22,897,815 (GRCm39) |
Y405F |
possibly damaging |
Het |
| Kptn |
G |
T |
7: 15,859,709 (GRCm39) |
C311F |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,821,890 (GRCm39) |
I2982V |
probably benign |
Het |
| Mamstr |
G |
T |
7: 45,291,754 (GRCm39) |
D35Y |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,158,337 (GRCm39) |
D239G |
probably benign |
Het |
| Mindy3 |
T |
G |
2: 12,408,987 (GRCm39) |
|
probably benign |
Het |
| Mrpl39 |
A |
T |
16: 84,524,452 (GRCm39) |
H204Q |
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,108,647 (GRCm39) |
M1476K |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,172,967 (GRCm39) |
S45P |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,807,980 (GRCm39) |
|
probably null |
Het |
| Or4f61 |
A |
G |
2: 111,922,743 (GRCm39) |
I101T |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,028 (GRCm39) |
W152R |
probably damaging |
Het |
| Or6c207 |
C |
A |
10: 129,104,642 (GRCm39) |
K183N |
probably benign |
Het |
| Or8b56 |
T |
C |
9: 38,739,634 (GRCm39) |
S216P |
probably benign |
Het |
| Plau |
T |
A |
14: 20,888,683 (GRCm39) |
V100D |
probably damaging |
Het |
| Plpp7 |
T |
C |
2: 31,999,654 (GRCm39) |
V6A |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,074,535 (GRCm39) |
S356P |
probably benign |
Het |
| Rabl3 |
A |
G |
16: 37,362,293 (GRCm39) |
D44G |
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,101 (GRCm39) |
V59A |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,813,043 (GRCm39) |
N932I |
probably damaging |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,443,743 (GRCm39) |
V70A |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,733 (GRCm39) |
S56R |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,985,631 (GRCm39) |
Y8H |
probably benign |
Het |
| Tbx15 |
C |
T |
3: 99,223,672 (GRCm39) |
|
probably null |
Het |
| Tbx20 |
T |
A |
9: 24,681,072 (GRCm39) |
D140V |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,666,923 (GRCm39) |
Y42* |
probably null |
Het |
| Usp9y |
G |
A |
Y: 1,394,050 (GRCm39) |
T560I |
possibly damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,151 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
GG |
GGGGGG |
4: 144,801,547 (GRCm39) |
|
probably null |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp78 |
G |
A |
7: 6,382,056 (GRCm39) |
G369R |
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 |
|
|
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'- ATCGCTGTTGTGCAGTTGAC -3'
(R):5'- GGCAAACTGATCCACTCGATG -3'
Sequencing Primer
(F):5'- TGTGCAGTTGACTTTTATAAAGAGC -3'
(R):5'- AGTTGACCCGAATGGCCTCTAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation