Incidental Mutation 'R9426:Strn3'
ID |
712640 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strn3
|
Ensembl Gene |
ENSMUSG00000020954 |
Gene Name |
striatin, calmodulin binding protein 3 |
Synonyms |
SG2NA |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9426 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
51656415-51738680 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51694873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 297
(T297A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000013130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013130]
[ENSMUST00000169503]
|
AlphaFold |
Q9ERG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013130
AA Change: T297A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000013130 Gene: ENSMUSG00000020954 AA Change: T297A
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
low complexity region
|
31 |
55 |
N/A |
INTRINSIC |
Pfam:Striatin
|
64 |
194 |
1.3e-50 |
PFAM |
low complexity region
|
252 |
263 |
N/A |
INTRINSIC |
low complexity region
|
349 |
367 |
N/A |
INTRINSIC |
low complexity region
|
429 |
446 |
N/A |
INTRINSIC |
WD40
|
468 |
507 |
7.05e-9 |
SMART |
WD40
|
521 |
560 |
2.42e-7 |
SMART |
WD40
|
574 |
613 |
1.62e-8 |
SMART |
WD40
|
617 |
659 |
8.25e0 |
SMART |
WD40
|
670 |
708 |
2.65e1 |
SMART |
WD40
|
711 |
750 |
2.32e-9 |
SMART |
WD40
|
753 |
796 |
4.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169503
AA Change: T297A
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130184 Gene: ENSMUSG00000020954 AA Change: T297A
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
low complexity region
|
31 |
55 |
N/A |
INTRINSIC |
Pfam:Striatin
|
64 |
198 |
3.2e-51 |
PFAM |
low complexity region
|
252 |
263 |
N/A |
INTRINSIC |
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
WD40
|
384 |
423 |
7.05e-9 |
SMART |
WD40
|
437 |
476 |
2.42e-7 |
SMART |
WD40
|
490 |
529 |
1.62e-8 |
SMART |
WD40
|
533 |
575 |
8.25e0 |
SMART |
WD40
|
586 |
624 |
2.65e1 |
SMART |
WD40
|
627 |
666 |
2.32e-9 |
SMART |
WD40
|
669 |
712 |
4.95e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,851,264 (GRCm39) |
D2159G |
possibly damaging |
Het |
Adamts8 |
A |
G |
9: 30,864,721 (GRCm39) |
Y404C |
possibly damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,034 (GRCm39) |
F908S |
possibly damaging |
Het |
Arhgef16 |
A |
C |
4: 154,366,300 (GRCm39) |
L489R |
probably damaging |
Het |
Asmt |
G |
A |
X: 169,110,199 (GRCm39) |
G236E |
probably damaging |
Het |
Ces2e |
A |
G |
8: 105,656,220 (GRCm39) |
Y177C |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,814,237 (GRCm39) |
I199T |
probably damaging |
Het |
Chac1 |
T |
A |
2: 119,183,914 (GRCm39) |
F172Y |
possibly damaging |
Het |
Cldnd2 |
A |
T |
7: 43,092,688 (GRCm39) |
I160F |
possibly damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Coq10b |
C |
G |
1: 55,106,719 (GRCm39) |
L175V |
possibly damaging |
Het |
Cpne6 |
T |
C |
14: 55,751,176 (GRCm39) |
|
probably null |
Het |
Dnai4 |
A |
T |
4: 102,906,743 (GRCm39) |
I690N |
probably damaging |
Het |
Eif2b3 |
C |
A |
4: 116,923,578 (GRCm39) |
Y264* |
probably null |
Het |
Fcgbpl1 |
A |
T |
7: 27,843,281 (GRCm39) |
H723L |
possibly damaging |
Het |
Fhod1 |
C |
T |
8: 106,056,490 (GRCm39) |
R1100Q |
probably benign |
Het |
Hao1 |
T |
A |
2: 134,347,555 (GRCm39) |
H250L |
probably benign |
Het |
Has3 |
A |
G |
8: 107,600,823 (GRCm39) |
Y95C |
probably damaging |
Het |
Hoxc10 |
A |
T |
15: 102,879,289 (GRCm39) |
K270* |
probably null |
Het |
Kcnq5 |
A |
G |
1: 21,473,118 (GRCm39) |
F710L |
probably benign |
Het |
Knl1 |
C |
T |
2: 118,899,979 (GRCm39) |
T560I |
possibly damaging |
Het |
Ltbp1 |
C |
T |
17: 75,598,309 (GRCm39) |
R597W |
possibly damaging |
Het |
Nfib |
T |
G |
4: 82,416,529 (GRCm39) |
T170P |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Optn |
T |
A |
2: 5,059,485 (GRCm39) |
E11V |
possibly damaging |
Het |
Or4d2b |
A |
T |
11: 87,780,056 (GRCm39) |
L222Q |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,870,625 (GRCm39) |
L141* |
probably null |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Prkcg |
C |
T |
7: 3,375,975 (GRCm39) |
S540F |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,694,897 (GRCm39) |
I75N |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,164,212 (GRCm39) |
L1042P |
probably damaging |
Het |
Scmh1 |
T |
C |
4: 120,362,556 (GRCm39) |
V264A |
probably benign |
Het |
Sec23a |
A |
G |
12: 59,053,890 (GRCm39) |
V36A |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,828,491 (GRCm39) |
S34G |
probably damaging |
Het |
Serpina3a |
A |
G |
12: 104,087,649 (GRCm39) |
N191D |
probably benign |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Smchd1 |
C |
T |
17: 71,672,125 (GRCm39) |
S1643N |
probably benign |
Het |
Snrk |
T |
A |
9: 121,986,326 (GRCm39) |
Y232N |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,610 (GRCm39) |
K2133N |
probably damaging |
Het |
Spmip3 |
T |
A |
1: 177,570,834 (GRCm39) |
L56* |
probably null |
Het |
St6galnac6 |
T |
C |
2: 32,505,094 (GRCm39) |
I202T |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,704,911 (GRCm39) |
K1819R |
probably damaging |
Het |
Sult1b1 |
T |
A |
5: 87,665,280 (GRCm39) |
E218V |
probably damaging |
Het |
Tcp10c |
T |
C |
17: 13,584,463 (GRCm39) |
S275P |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Urb2 |
T |
G |
8: 124,755,285 (GRCm39) |
L331V |
probably damaging |
Het |
Zfp592 |
A |
T |
7: 80,674,205 (GRCm39) |
T390S |
probably damaging |
Het |
|
Other mutations in Strn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Strn3
|
APN |
12 |
51,707,979 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL00690:Strn3
|
APN |
12 |
51,657,221 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL00886:Strn3
|
APN |
12 |
51,656,933 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01967:Strn3
|
APN |
12 |
51,699,596 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02507:Strn3
|
APN |
12 |
51,708,410 (GRCm39) |
nonsense |
probably null |
|
IGL03139:Strn3
|
APN |
12 |
51,699,633 (GRCm39) |
splice site |
probably benign |
|
IGL03282:Strn3
|
APN |
12 |
51,673,992 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4519001:Strn3
|
UTSW |
12 |
51,680,491 (GRCm39) |
missense |
probably benign |
0.00 |
R0106:Strn3
|
UTSW |
12 |
51,668,571 (GRCm39) |
missense |
probably benign |
0.01 |
R0106:Strn3
|
UTSW |
12 |
51,668,571 (GRCm39) |
missense |
probably benign |
0.01 |
R0336:Strn3
|
UTSW |
12 |
51,708,391 (GRCm39) |
critical splice donor site |
probably null |
|
R0492:Strn3
|
UTSW |
12 |
51,657,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R0512:Strn3
|
UTSW |
12 |
51,673,966 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0610:Strn3
|
UTSW |
12 |
51,657,231 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0707:Strn3
|
UTSW |
12 |
51,657,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Strn3
|
UTSW |
12 |
51,673,879 (GRCm39) |
splice site |
probably benign |
|
R1562:Strn3
|
UTSW |
12 |
51,680,401 (GRCm39) |
missense |
probably benign |
|
R1599:Strn3
|
UTSW |
12 |
51,699,549 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1663:Strn3
|
UTSW |
12 |
51,699,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R1807:Strn3
|
UTSW |
12 |
51,673,986 (GRCm39) |
missense |
probably benign |
0.10 |
R2263:Strn3
|
UTSW |
12 |
51,690,006 (GRCm39) |
splice site |
probably null |
|
R2443:Strn3
|
UTSW |
12 |
51,674,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R3623:Strn3
|
UTSW |
12 |
51,707,999 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3624:Strn3
|
UTSW |
12 |
51,707,999 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4154:Strn3
|
UTSW |
12 |
51,673,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Strn3
|
UTSW |
12 |
51,674,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R4400:Strn3
|
UTSW |
12 |
51,694,883 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4564:Strn3
|
UTSW |
12 |
51,680,404 (GRCm39) |
missense |
probably benign |
0.00 |
R4585:Strn3
|
UTSW |
12 |
51,696,953 (GRCm39) |
missense |
probably benign |
0.02 |
R4755:Strn3
|
UTSW |
12 |
51,656,999 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4794:Strn3
|
UTSW |
12 |
51,696,954 (GRCm39) |
missense |
probably benign |
0.38 |
R5288:Strn3
|
UTSW |
12 |
51,694,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R5308:Strn3
|
UTSW |
12 |
51,676,168 (GRCm39) |
missense |
probably damaging |
0.99 |
R5765:Strn3
|
UTSW |
12 |
51,680,410 (GRCm39) |
missense |
probably benign |
|
R5893:Strn3
|
UTSW |
12 |
51,690,006 (GRCm39) |
splice site |
probably null |
|
R5945:Strn3
|
UTSW |
12 |
51,676,279 (GRCm39) |
missense |
probably benign |
0.00 |
R6244:Strn3
|
UTSW |
12 |
51,656,890 (GRCm39) |
missense |
probably damaging |
0.98 |
R6523:Strn3
|
UTSW |
12 |
51,689,881 (GRCm39) |
splice site |
probably null |
|
R7437:Strn3
|
UTSW |
12 |
51,656,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R7545:Strn3
|
UTSW |
12 |
51,674,543 (GRCm39) |
missense |
probably damaging |
0.98 |
R8299:Strn3
|
UTSW |
12 |
51,694,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R8337:Strn3
|
UTSW |
12 |
51,707,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R9141:Strn3
|
UTSW |
12 |
51,694,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R9501:Strn3
|
UTSW |
12 |
51,696,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R9503:Strn3
|
UTSW |
12 |
51,656,894 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9518:Strn3
|
UTSW |
12 |
51,696,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R9563:Strn3
|
UTSW |
12 |
51,674,300 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9630:Strn3
|
UTSW |
12 |
51,657,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R9696:Strn3
|
UTSW |
12 |
51,676,286 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Strn3
|
UTSW |
12 |
51,699,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTACCTGCTACCATACACACAGAG -3'
(R):5'- AGCACCTCATCACTTGTGTC -3'
Sequencing Primer
(F):5'- TACACACAGAGCCCACACAGG -3'
(R):5'- CTCATCACTTGTGTCAGATGTTACAG -3'
|
Posted On |
2022-05-16 |