Incidental Mutation 'R2443:Strn3'
| ID |
249880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn3
|
| Ensembl Gene |
ENSMUSG00000020954 |
| Gene Name |
striatin, calmodulin binding protein 3 |
| Synonyms |
SG2NA |
| MMRRC Submission |
040401-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2443 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
51656415-51738680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51674618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 389
(Y389N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013130]
[ENSMUST00000169503]
|
| AlphaFold |
Q9ERG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013130
AA Change: Y473N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: Y473N
| 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 damaging
Transcript: ENSMUST00000169503
AA Change: Y389N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: Y389N
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc13 |
C |
T |
9: 102,511,222 (GRCm39) |
P37S |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,544,596 (GRCm39) |
D39E |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,123,094 (GRCm39) |
Y645H |
probably damaging |
Het |
| Clec4d |
G |
A |
6: 123,245,076 (GRCm39) |
V119M |
probably benign |
Het |
| Dennd11 |
T |
C |
6: 40,383,710 (GRCm39) |
D444G |
probably damaging |
Het |
| Dlx2 |
A |
G |
2: 71,376,349 (GRCm39) |
S130P |
probably benign |
Het |
| Dync2li1 |
C |
A |
17: 84,955,093 (GRCm39) |
Q251K |
probably benign |
Het |
| Edem1 |
A |
T |
6: 108,828,230 (GRCm39) |
K518N |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,388,665 (GRCm39) |
N239K |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,236,693 (GRCm39) |
V736A |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,935,848 (GRCm39) |
K25R |
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,474,783 (GRCm39) |
R4701S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,031,440 (GRCm39) |
P33L |
probably damaging |
Het |
| Kcnip3 |
T |
A |
2: 127,301,983 (GRCm39) |
I194F |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,742,579 (GRCm39) |
I892L |
probably damaging |
Het |
| Krt78 |
C |
T |
15: 101,855,033 (GRCm39) |
G926E |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,566,919 (GRCm39) |
Y1934C |
unknown |
Het |
| Masp1 |
A |
T |
16: 23,295,062 (GRCm39) |
Y400N |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,092 (GRCm39) |
M1T |
probably null |
Het |
| Mmp19 |
A |
G |
10: 128,634,725 (GRCm39) |
E447G |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,557 (GRCm39) |
H115Y |
possibly damaging |
Het |
| Myo1e |
C |
T |
9: 70,234,454 (GRCm39) |
S269L |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,744,976 (GRCm39) |
T288I |
probably benign |
Het |
| Npy5r |
T |
A |
8: 67,133,942 (GRCm39) |
K284* |
probably null |
Het |
| Oas3 |
C |
A |
5: 120,915,553 (GRCm39) |
R46L |
probably benign |
Het |
| Or5l14 |
A |
T |
2: 87,793,209 (GRCm39) |
V9E |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,447 (GRCm39) |
S431T |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,037,982 (GRCm39) |
V184A |
possibly damaging |
Het |
| Pomt2 |
C |
A |
12: 87,180,154 (GRCm39) |
K282N |
probably damaging |
Het |
| Psmd12 |
T |
A |
11: 107,386,563 (GRCm39) |
M378K |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,829,786 (GRCm39) |
A220V |
probably null |
Het |
| Tecpr2 |
T |
G |
12: 110,862,759 (GRCm39) |
L57R |
probably damaging |
Het |
| Tkfc |
A |
G |
19: 10,571,902 (GRCm39) |
L378P |
probably damaging |
Het |
| Tmprss2 |
T |
G |
16: 97,369,703 (GRCm39) |
D357A |
possibly damaging |
Het |
| Tollip |
C |
T |
7: 141,444,560 (GRCm39) |
W64* |
probably null |
Het |
| Vcan |
A |
G |
13: 89,852,794 (GRCm39) |
F722S |
probably damaging |
Het |
| Vcp |
A |
T |
4: 42,983,385 (GRCm39) |
N558K |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,133,646 (GRCm39) |
I318T |
probably damaging |
Het |
| Vmn1r33 |
A |
T |
6: 66,588,957 (GRCm39) |
I199K |
possibly damaging |
Het |
| Zfp61 |
A |
G |
7: 23,991,194 (GRCm39) |
V319A |
probably benign |
Het |
| Zfyve28 |
A |
G |
5: 34,374,238 (GRCm39) |
V592A |
possibly 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 |
|
|
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 |
|
R9426: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'- AGATAGGTTCTACATCTAAAGAGGC -3'
(R):5'- GCCCCTGGATATTTTAGTGAAACAG -3'
Sequencing Primer
(F):5'- GCACTCCTAAGAGAGAAAAGGAATG -3'
(R):5'- CCACATGCCTTTGAGCTT -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation