Incidental Mutation 'R7997:Strn'
| ID |
616166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn
|
| Ensembl Gene |
ENSMUSG00000024077 |
| Gene Name |
striatin, calmodulin binding protein |
| Synonyms |
|
| MMRRC Submission |
046037-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R7997 (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 78991672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 216
(T216A)
|
| 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: T63A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: T63A
| 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: T37A
| 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: T216A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: T216A
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
G |
A |
14: 41,766,209 (GRCm39) |
|
probably benign |
Het |
| Abra |
A |
C |
15: 41,729,593 (GRCm39) |
M269R |
probably damaging |
Het |
| Atp6v0e2 |
A |
G |
6: 48,514,718 (GRCm39) |
I12V |
probably benign |
Het |
| Bicral |
T |
A |
17: 47,112,534 (GRCm39) |
I889F |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,569,609 (GRCm39) |
V826A |
probably benign |
Het |
| Casq2 |
A |
T |
3: 101,994,158 (GRCm39) |
K68N |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,432,518 (GRCm39) |
Q135H |
possibly damaging |
Het |
| Chn2 |
A |
T |
6: 54,267,270 (GRCm39) |
H253L |
probably damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,999,514 (GRCm39) |
E233G |
probably damaging |
Het |
| Fbxo6 |
A |
G |
4: 148,231,852 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gimap6 |
G |
T |
6: 48,679,249 (GRCm39) |
N262K |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Grid2 |
C |
A |
6: 64,297,120 (GRCm39) |
H494Q |
possibly damaging |
Het |
| Hmgcl |
T |
A |
4: 135,687,320 (GRCm39) |
Y198* |
probably null |
Het |
| Hmgxb4 |
A |
T |
8: 75,727,956 (GRCm39) |
Y313F |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
| Insc |
A |
G |
7: 114,444,372 (GRCm39) |
D453G |
probably damaging |
Het |
| Iqub |
T |
C |
6: 24,501,413 (GRCm39) |
N179S |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,745,220 (GRCm39) |
K1597N |
unknown |
Het |
| Kntc1 |
T |
C |
5: 123,916,117 (GRCm39) |
V682A |
probably damaging |
Het |
| Mcm9 |
T |
A |
10: 53,473,502 (GRCm39) |
|
probably benign |
Het |
| Med30 |
T |
C |
15: 52,593,467 (GRCm39) |
L149P |
probably damaging |
Het |
| Mmd2 |
T |
A |
5: 142,560,615 (GRCm39) |
H102L |
possibly damaging |
Het |
| Mtres1 |
T |
C |
10: 43,401,356 (GRCm39) |
T198A |
probably benign |
Het |
| Mybph |
G |
A |
1: 134,122,405 (GRCm39) |
R150H |
probably damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,901,919 (GRCm39) |
T156A |
probably benign |
Het |
| Or2g1 |
T |
A |
17: 38,107,053 (GRCm39) |
C239* |
probably null |
Het |
| Pecr |
T |
A |
1: 72,315,475 (GRCm39) |
K92* |
probably null |
Het |
| Pithd1 |
T |
C |
4: 135,703,723 (GRCm39) |
T207A |
probably benign |
Het |
| Prdm10 |
T |
A |
9: 31,264,721 (GRCm39) |
C719S |
probably damaging |
Het |
| Rasef |
C |
A |
4: 73,658,799 (GRCm39) |
W316L |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,701,581 (GRCm39) |
V149A |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,702,968 (GRCm39) |
V5034D |
unknown |
Het |
| Slc26a10 |
A |
G |
10: 127,009,178 (GRCm39) |
V661A |
possibly damaging |
Het |
| Slc30a8 |
T |
G |
15: 52,189,081 (GRCm39) |
I232S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,772,364 (GRCm39) |
F1464L |
unknown |
Het |
| Smg1 |
A |
C |
7: 117,772,365 (GRCm39) |
H1463Q |
unknown |
Het |
| Spata1 |
G |
A |
3: 146,182,035 (GRCm39) |
A245V |
probably benign |
Het |
| St8sia1 |
C |
T |
6: 142,909,376 (GRCm39) |
C40Y |
probably damaging |
Het |
| Tecpr2 |
G |
A |
12: 110,900,037 (GRCm39) |
E802K |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,523,512 (GRCm39) |
I1685V |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,427,683 (GRCm39) |
D307G |
probably benign |
Het |
| Usp17le |
A |
T |
7: 104,418,046 (GRCm39) |
D365E |
possibly damaging |
Het |
| Vmn1r13 |
T |
G |
6: 57,187,329 (GRCm39) |
S163A |
possibly damaging |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,600 (GRCm39) |
T111S |
probably damaging |
Het |
| Wdr95 |
G |
T |
5: 149,502,622 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
G |
A |
4: 34,808,688 (GRCm39) |
P1457L |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
probably damaging |
Het |
| Zfp606 |
T |
C |
7: 12,228,134 (GRCm39) |
S752P |
possibly damaging |
Het |
| Zscan29 |
T |
G |
2: 120,991,221 (GRCm39) |
S856R |
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 |
|
R7746:Strn
|
UTSW |
17 |
78,984,801 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7950:Strn
|
UTSW |
17 |
78,977,852 (GRCm39) |
missense |
|
|
|
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'- CAGCAGTTAACAGGGTTTCAAG -3'
(R):5'- ATCCGTTTTGTGCAGGTATCTC -3'
Sequencing Primer
(F):5'- CCTTAAGACCTTCTAACTAAATG -3'
(R):5'- TATCTCCAGGAGGTCGGCTACAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation