Incidental Mutation 'R5710:Strn'
| ID |
452195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn
|
| Ensembl Gene |
ENSMUSG00000024077 |
| Gene Name |
striatin, calmodulin binding protein |
| Synonyms |
|
| MMRRC Submission |
044396-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R5710 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78995028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 162
(L162F)
|
| 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: L9F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: L9F
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117663
Gene: ENSMUSG00000024077
| 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 damaging
Transcript: ENSMUST00000145910
AA Change: L162F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: L162F
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
G |
A |
14: 68,847,357 (GRCm39) |
H713Y |
probably damaging |
Het |
| Adam39 |
A |
T |
8: 41,277,684 (GRCm39) |
Y25F |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,394,751 (GRCm39) |
N278S |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap18 |
G |
A |
10: 26,736,729 (GRCm39) |
|
probably null |
Het |
| Bcl2a1b |
A |
C |
9: 89,081,732 (GRCm39) |
Q107P |
probably benign |
Het |
| Btbd9 |
A |
G |
17: 30,447,842 (GRCm39) |
S525P |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,482,852 (GRCm39) |
S2093P |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,781 (GRCm39) |
D86G |
possibly damaging |
Het |
| Chdh |
C |
A |
14: 29,756,584 (GRCm39) |
Q337K |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,902,421 (GRCm39) |
D68G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,309,409 (GRCm39) |
K41N |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,408 (GRCm39) |
Y274H |
probably benign |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,717 (GRCm39) |
I431N |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,317,906 (GRCm39) |
W416R |
probably damaging |
Het |
| Fgd3 |
T |
A |
13: 49,450,205 (GRCm39) |
I15F |
probably benign |
Het |
| Fkbp14 |
T |
A |
6: 54,566,255 (GRCm39) |
|
probably null |
Het |
| Havcr1 |
T |
C |
11: 46,643,353 (GRCm39) |
V91A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,751,987 (GRCm39) |
|
probably benign |
Het |
| Lipc |
T |
A |
9: 70,719,979 (GRCm39) |
I343F |
probably benign |
Het |
| Madd |
T |
C |
2: 90,984,821 (GRCm39) |
T1331A |
probably damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,553,556 (GRCm39) |
L98F |
probably damaging |
Het |
| Micall1 |
C |
A |
15: 79,011,290 (GRCm39) |
H553Q |
probably damaging |
Het |
| Mxd4 |
A |
G |
5: 34,344,671 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CC |
CCCCATCAGGC |
6: 4,756,350 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Prtg |
T |
A |
9: 72,716,922 (GRCm39) |
Y88N |
probably damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
| Sclt1 |
C |
A |
3: 41,618,398 (GRCm39) |
E14* |
probably null |
Het |
| Shfl |
G |
T |
9: 20,784,192 (GRCm39) |
R138L |
possibly damaging |
Het |
| T |
T |
C |
17: 8,660,474 (GRCm39) |
S221P |
probably benign |
Het |
| Tbl1xr1 |
A |
G |
3: 22,264,578 (GRCm39) |
D511G |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,597,674 (GRCm39) |
N82T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,747,786 (GRCm39) |
R4421H |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,779,093 (GRCm39) |
L1158Q |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,757,008 (GRCm39) |
Y288C |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,765,089 (GRCm39) |
S217T |
probably benign |
Het |
| Zhx2 |
T |
A |
15: 57,684,866 (GRCm39) |
Y78* |
probably null |
Het |
| Znhit1 |
C |
T |
5: 137,011,456 (GRCm39) |
C119Y |
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 |
|
|
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 |
|
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'- AATGGCGTGGAACTCTTTTAAC -3'
(R):5'- AGCCGGTGGAGATACTTAGTC -3'
Sequencing Primer
(F):5'- TTTAACTACATAAACCAGAGCAGAGG -3'
(R):5'- CCGGTGGAGATACTTAGTCATACAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation