Incidental Mutation 'R3941:Strn'
| ID |
307477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn
|
| Ensembl Gene |
ENSMUSG00000024077 |
| Gene Name |
striatin, calmodulin binding protein |
| Synonyms |
|
| MMRRC Submission |
040923-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
R3941 (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 78965369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 641
(I641N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
| AlphaFold |
O55106 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024881
AA Change: I488N
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: I488N
| 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: I641N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: I641N
| 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 |
0.6957 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,214,263 (GRCm39) |
T193S |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,667,242 (GRCm39) |
L435Q |
probably damaging |
Het |
| Bin1 |
T |
C |
18: 32,539,211 (GRCm39) |
V48A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Btn1a1 |
T |
G |
13: 23,643,434 (GRCm39) |
R338S |
probably benign |
Het |
| Cacnb4 |
C |
A |
2: 52,359,501 (GRCm39) |
R169L |
probably damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,916,455 (GRCm39) |
T404A |
probably benign |
Het |
| Cd2ap |
G |
C |
17: 43,119,690 (GRCm39) |
H488D |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,467 (GRCm39) |
T498A |
probably benign |
Het |
| Cngb3 |
A |
G |
4: 19,396,786 (GRCm39) |
N380D |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,817,033 (GRCm39) |
S426F |
unknown |
Het |
| Cr2 |
A |
T |
1: 194,848,122 (GRCm39) |
H345Q |
probably damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,452 (GRCm39) |
K743M |
probably benign |
Het |
| Depdc1b |
T |
C |
13: 108,505,370 (GRCm39) |
S245P |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,124,825 (GRCm39) |
H2016Y |
probably benign |
Het |
| Eif2s3y |
G |
T |
Y: 1,012,079 (GRCm39) |
R98L |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,753,167 (GRCm39) |
G915S |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,193,349 (GRCm39) |
L216P |
probably benign |
Het |
| Fpr-rs3 |
T |
C |
17: 20,845,111 (GRCm39) |
N10S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gabrr3 |
A |
G |
16: 59,253,864 (GRCm39) |
N194D |
probably damaging |
Het |
| Hey1 |
A |
G |
3: 8,729,638 (GRCm39) |
L273P |
probably damaging |
Het |
| Irf6 |
A |
G |
1: 192,850,857 (GRCm39) |
K365E |
probably benign |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,389,265 (GRCm39) |
A3217V |
probably damaging |
Het |
| Mei4 |
C |
T |
9: 81,809,336 (GRCm39) |
R140C |
probably benign |
Het |
| Mir100hg |
T |
C |
9: 41,501,570 (GRCm39) |
L143P |
probably damaging |
Het |
| Mpo |
A |
T |
11: 87,688,175 (GRCm39) |
K278M |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,622,328 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
G |
C |
6: 122,040,522 (GRCm39) |
G691R |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Nipal4 |
C |
T |
11: 46,041,473 (GRCm39) |
V241M |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
| Pcdh1 |
A |
G |
18: 38,332,511 (GRCm39) |
V164A |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,641,037 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,620,133 (GRCm39) |
E623G |
probably damaging |
Het |
| Psors1c2 |
G |
T |
17: 35,844,825 (GRCm39) |
G29* |
probably null |
Het |
| Slc25a54 |
A |
T |
3: 109,019,479 (GRCm39) |
D361V |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,400,992 (GRCm39) |
H123L |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,900,764 (GRCm39) |
|
probably null |
Het |
| Tapbp |
A |
G |
17: 34,139,457 (GRCm39) |
E151G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,445 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,901 (GRCm39) |
C171Y |
probably damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,587,329 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,393 (GRCm39) |
V78A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,682 (GRCm39) |
Y167H |
probably damaging |
Het |
| Washc1 |
T |
C |
17: 66,425,123 (GRCm39) |
S376P |
probably damaging |
Het |
| Wnt10a |
T |
A |
1: 74,842,656 (GRCm39) |
|
probably null |
Het |
| Xrcc4 |
A |
G |
13: 90,219,752 (GRCm39) |
V16A |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,767,799 (GRCm39) |
V770A |
probably benign |
Het |
| Zfp410 |
A |
G |
12: 84,385,527 (GRCm39) |
N90S |
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 |
|
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'- GAAAATGTCACCAGCCATATGG -3'
(R):5'- CAGGTTAGAAAGGAATACTCTTTACTG -3'
Sequencing Primer
(F):5'- TGTCACCAGCCATATGGAAAAAGTTC -3'
(R):5'- GCACTTTGTCAAGTGGACT -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation