Incidental Mutation 'R7746:Strn'
| ID |
596866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn
|
| Ensembl Gene |
ENSMUSG00000024077 |
| Gene Name |
striatin, calmodulin binding protein |
| Synonyms |
|
| MMRRC Submission |
045802-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R7746 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78984801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 281
(T281A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
| AlphaFold |
O55106 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024881
AA Change: T128A
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: T128A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117663
Gene: ENSMUSG00000024077
AA Change: T102A
| 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: T281A
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: T281A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,559,339 (GRCm39) |
Q184L |
probably benign |
Het |
| 9030624G23Rik |
T |
G |
12: 24,124,674 (GRCm39) |
S68R |
possibly damaging |
Het |
| Acyp1 |
G |
T |
12: 85,325,832 (GRCm39) |
R56S |
unknown |
Het |
| Angpt2 |
C |
T |
8: 18,742,080 (GRCm39) |
R492Q |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,637,451 (GRCm39) |
L1340P |
possibly damaging |
Het |
| Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
| Bach1 |
G |
A |
16: 87,526,521 (GRCm39) |
S661N |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,535 (GRCm39) |
I12T |
possibly damaging |
Het |
| C3 |
C |
T |
17: 57,525,859 (GRCm39) |
R841H |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 135,996,756 (GRCm39) |
R119L |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,988,207 (GRCm39) |
V1632M |
probably damaging |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,035,364 (GRCm39) |
H37R |
possibly damaging |
Het |
| Dvl1 |
A |
G |
4: 155,940,696 (GRCm39) |
I439V |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,404,670 (GRCm39) |
D474N |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,775,028 (GRCm39) |
E8D |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,882,269 (GRCm39) |
D822G |
probably damaging |
Het |
| Gm44501 |
C |
T |
17: 40,889,720 (GRCm39) |
A78V |
possibly damaging |
Het |
| Gpr19 |
C |
A |
6: 134,846,355 (GRCm39) |
A443S |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,931,007 (GRCm39) |
R729G |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,758,824 (GRCm39) |
T840K |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,835,544 (GRCm39) |
N551S |
probably benign |
Het |
| Mgam |
T |
G |
6: 40,645,127 (GRCm39) |
F635V |
probably damaging |
Het |
| Mlc1 |
G |
A |
15: 88,848,373 (GRCm39) |
A262V |
probably damaging |
Het |
| Msantd5f9 |
C |
T |
4: 73,838,099 (GRCm39) |
S29N |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,976 (GRCm39) |
Y2974C |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,198,150 (GRCm39) |
Y208* |
probably null |
Het |
| Or2n1d |
C |
T |
17: 38,646,285 (GRCm39) |
P79L |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,437 (GRCm39) |
L215Q |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,499,868 (GRCm39) |
F915S |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,980,596 (GRCm39) |
C829Y |
probably benign |
Het |
| Polr1a |
C |
T |
6: 71,918,496 (GRCm39) |
P685S |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,123,352 (GRCm39) |
D16G |
probably benign |
Het |
| Ppwd1 |
C |
T |
13: 104,353,714 (GRCm39) |
R348H |
probably damaging |
Het |
| Pxdc1 |
T |
C |
13: 34,823,046 (GRCm39) |
T98A |
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,167 (GRCm39) |
I68V |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,271,261 (GRCm39) |
C365R |
probably damaging |
Het |
| Samd4b |
A |
T |
7: 28,103,328 (GRCm39) |
H43Q |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 110,040,633 (GRCm39) |
V398D |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,894,708 (GRCm39) |
I1012M |
probably damaging |
Het |
| Serpinb9h |
A |
T |
13: 33,581,841 (GRCm39) |
I133L |
probably damaging |
Het |
| Syt4 |
T |
A |
18: 31,577,318 (GRCm39) |
D12V |
probably benign |
Het |
| Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
| Tmem45a |
A |
G |
16: 56,646,100 (GRCm39) |
L40P |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,942,255 (GRCm39) |
P1081L |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,716,544 (GRCm39) |
V2888A |
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 |
|
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 |
|
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'- ACGGAGGTGTGACATTTCAGAAC -3'
(R):5'- AACACAATGTGTCTGGCTGAG -3'
Sequencing Primer
(F):5'- TTCAGAACCAAGTGTTTCCCAG -3'
(R):5'- ACACAATGTGTCTGGCTGAGTTAGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation