Incidental Mutation 'R6800:Strn'
| ID |
533308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn
|
| Ensembl Gene |
ENSMUSG00000024077 |
| Gene Name |
striatin, calmodulin binding protein |
| Synonyms |
|
| MMRRC Submission |
044913-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R6800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 78977787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
| AlphaFold |
O55106 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024881
|
| SMART Domains |
Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
| 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: P197T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 60,992,948 (GRCm39) |
P244S |
probably damaging |
Het |
| 9130023H24Rik |
C |
A |
7: 127,836,742 (GRCm39) |
|
probably benign |
Het |
| Acoxl |
A |
T |
2: 127,852,085 (GRCm39) |
Q129L |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,316,268 (GRCm39) |
T32A |
probably benign |
Het |
| Alox15 |
C |
T |
11: 70,235,645 (GRCm39) |
|
probably null |
Het |
| Antxrl |
T |
C |
14: 33,787,864 (GRCm39) |
S296P |
probably damaging |
Het |
| Arrb2 |
G |
T |
11: 70,328,142 (GRCm39) |
G52* |
probably null |
Het |
| Bltp2 |
T |
C |
11: 78,179,105 (GRCm39) |
F2091S |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,309,045 (GRCm39) |
I499N |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,629,719 (GRCm39) |
D683V |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,504,686 (GRCm39) |
D396E |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,326,066 (GRCm39) |
I2700F |
probably damaging |
Het |
| Cypt4 |
A |
T |
9: 24,536,965 (GRCm39) |
N152Y |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,316,467 (GRCm39) |
N1640D |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,379,377 (GRCm39) |
N3704Y |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,963,565 (GRCm39) |
|
probably null |
Het |
| Elac2 |
G |
A |
11: 64,890,265 (GRCm39) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,433,029 (GRCm39) |
|
probably null |
Het |
| Espnl |
T |
C |
1: 91,270,351 (GRCm39) |
V386A |
probably damaging |
Het |
| Fbxl6 |
T |
A |
15: 76,422,898 (GRCm39) |
|
probably benign |
Het |
| Fdps |
A |
C |
3: 89,008,068 (GRCm39) |
F17V |
probably damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,346,898 (GRCm39) |
I576T |
possibly damaging |
Het |
| Gm20939 |
A |
G |
17: 95,184,657 (GRCm39) |
E435G |
possibly damaging |
Het |
| Hivep1 |
G |
A |
13: 42,310,852 (GRCm39) |
V1031I |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,324,603 (GRCm39) |
S4655A |
probably benign |
Het |
| Ifrd1 |
T |
A |
12: 40,273,157 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
T |
7: 80,378,729 (GRCm39) |
T1219K |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,233 (GRCm39) |
E639K |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 20,017,326 (GRCm39) |
*1373W |
probably null |
Het |
| Mia2 |
G |
A |
12: 59,235,332 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,156,896 (GRCm39) |
D313G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,371 (GRCm39) |
S77P |
probably damaging |
Het |
| Mrpl51 |
T |
C |
6: 125,169,367 (GRCm39) |
V17A |
probably benign |
Het |
| Neurod4 |
A |
T |
10: 130,106,661 (GRCm39) |
Y204* |
probably null |
Het |
| Or2n1 |
A |
G |
17: 38,486,013 (GRCm39) |
I13V |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,776,217 (GRCm39) |
V97E |
probably benign |
Het |
| Or5p67 |
G |
A |
7: 107,922,460 (GRCm39) |
T141I |
probably benign |
Het |
| Or6c66b |
A |
T |
10: 129,377,132 (GRCm39) |
H242L |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,596,941 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,580 (GRCm39) |
R550Q |
probably benign |
Het |
| Phldb3 |
T |
C |
7: 24,323,577 (GRCm39) |
L437P |
possibly damaging |
Het |
| Pianp |
C |
A |
6: 124,978,565 (GRCm39) |
P257T |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,584,287 (GRCm39) |
H140Q |
possibly damaging |
Het |
| Rfx2 |
A |
G |
17: 57,087,804 (GRCm39) |
I529T |
probably damaging |
Het |
| Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,268,599 (GRCm39) |
I1395T |
possibly damaging |
Het |
| Rps6ka2 |
A |
C |
17: 7,519,035 (GRCm39) |
K186Q |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
C |
A |
2: 180,964,256 (GRCm39) |
T85N |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,710,967 (GRCm39) |
N99S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,723,741 (GRCm39) |
G4106D |
possibly damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,437,894 (GRCm39) |
V71A |
probably benign |
Het |
| Sgip1 |
A |
G |
4: 102,778,225 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
G |
A |
8: 106,676,371 (GRCm39) |
T515I |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
| Strbp |
C |
T |
2: 37,515,228 (GRCm39) |
R266Q |
probably damaging |
Het |
| Thnsl2 |
C |
A |
6: 71,118,264 (GRCm39) |
V55L |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,231,858 (GRCm39) |
Q164L |
unknown |
Het |
| Tmprss6 |
C |
T |
15: 78,324,457 (GRCm39) |
R786H |
probably damaging |
Het |
| Ttc21a |
T |
A |
9: 119,770,268 (GRCm39) |
L113Q |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,038,994 (GRCm39) |
|
probably null |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,191 (GRCm39) |
D465G |
probably damaging |
Het |
| Vmp1 |
A |
C |
11: 86,556,913 (GRCm39) |
|
probably null |
Het |
| Wdcp |
T |
C |
12: 4,901,358 (GRCm39) |
F405L |
probably damaging |
Het |
| Zfhx3 |
A |
T |
8: 109,676,149 (GRCm39) |
T2400S |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,593,860 (GRCm39) |
T702A |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 74,520,080 (GRCm39) |
S333G |
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 |
|
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'- ATCTACAATGAAGCCAATGACTAGTGG -3'
(R):5'- CCAGTCAAATTGTGTATTGCAGTC -3'
Sequencing Primer
(F):5'- GTGGTCTAAATGAAGCCAATCAC -3'
(R):5'- CCATAACGGACTATGGGTA -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation