Incidental Mutation 'R2263:Strn3'
| ID |
243939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn3
|
| Ensembl Gene |
ENSMUSG00000020954 |
| Gene Name |
striatin, calmodulin binding protein 3 |
| Synonyms |
SG2NA |
| MMRRC Submission |
040263-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2263 (G1)
|
| Quality Score |
179 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
51656415-51738680 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 51690006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013130]
[ENSMUST00000169503]
|
| AlphaFold |
Q9ERG2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000013130
|
| SMART Domains |
Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218212
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,224,702 (GRCm39) |
S472P |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,920,788 (GRCm39) |
|
probably null |
Het |
| Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
| Atp2b4 |
C |
T |
1: 133,654,271 (GRCm39) |
R778Q |
probably benign |
Het |
| Bdp1 |
T |
A |
13: 100,202,545 (GRCm39) |
D693V |
probably damaging |
Het |
| Car12 |
C |
A |
9: 66,654,913 (GRCm39) |
Y114* |
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
A |
G |
8: 11,362,586 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
G |
T |
14: 57,523,865 (GRCm39) |
Y232* |
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,892,809 (GRCm39) |
N798S |
probably damaging |
Het |
| Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,045,462 (GRCm39) |
N737K |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,349,918 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
A |
G |
4: 56,755,298 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,943,138 (GRCm39) |
V677A |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,228,248 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,320,648 (GRCm39) |
Y314* |
probably null |
Het |
| Fgf12 |
T |
A |
16: 28,008,363 (GRCm39) |
K84* |
probably null |
Het |
| Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
| Folh1 |
C |
T |
7: 86,368,973 (GRCm39) |
S685N |
probably benign |
Het |
| Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
| Hdac7 |
A |
G |
15: 97,708,732 (GRCm39) |
|
probably null |
Het |
| Heatr5a |
A |
T |
12: 51,962,933 (GRCm39) |
V989E |
probably damaging |
Het |
| Kif12 |
A |
G |
4: 63,087,758 (GRCm39) |
S242P |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
| Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
| Nmur2 |
A |
T |
11: 55,920,387 (GRCm39) |
V286E |
probably damaging |
Het |
| Or1ad6 |
G |
A |
11: 50,860,696 (GRCm39) |
V284I |
possibly damaging |
Het |
| Or1e1 |
T |
A |
11: 73,245,131 (GRCm39) |
L184Q |
possibly damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,090,111 (GRCm39) |
I384V |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,430,988 (GRCm39) |
|
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,851,132 (GRCm39) |
D5E |
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,278,260 (GRCm39) |
N348I |
possibly damaging |
Het |
| Shisa9 |
G |
T |
16: 11,802,631 (GRCm39) |
A63S |
possibly damaging |
Het |
| Shpk |
G |
A |
11: 73,097,319 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
T |
C |
2: 136,885,935 (GRCm39) |
I85T |
probably damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,133,782 (GRCm39) |
D77V |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,867,978 (GRCm39) |
M61T |
possibly damaging |
Het |
| Tekt4 |
T |
A |
17: 25,695,485 (GRCm39) |
S439R |
possibly damaging |
Het |
| Ticam1 |
A |
T |
17: 56,578,888 (GRCm39) |
V69E |
possibly damaging |
Het |
| Trpv1 |
C |
T |
11: 73,132,508 (GRCm39) |
A374V |
probably damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,842 (GRCm39) |
L416* |
probably null |
Het |
| Uqcrfs1 |
G |
A |
13: 30,725,090 (GRCm39) |
S150L |
probably benign |
Het |
| Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
| Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,646,327 (GRCm39) |
V1477E |
probably benign |
Het |
| Wdr87-ps |
T |
C |
7: 29,231,987 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo1 |
T |
A |
11: 23,234,634 (GRCm39) |
|
probably null |
Het |
| Xpo5 |
A |
G |
17: 46,541,269 (GRCm39) |
I769V |
probably benign |
Het |
| Zc3h14 |
A |
T |
12: 98,724,773 (GRCm39) |
H252L |
probably benign |
Het |
| Zfp410 |
G |
T |
12: 84,369,794 (GRCm39) |
|
probably null |
Het |
| Zfp521 |
T |
C |
18: 13,979,297 (GRCm39) |
E372G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-10-16 |
Incidental Mutation