Incidental Mutation 'R8337:Strn3'
| ID |
644687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn3
|
| Ensembl Gene |
ENSMUSG00000020954 |
| Gene Name |
striatin, calmodulin binding protein 3 |
| Synonyms |
SG2NA |
| MMRRC Submission |
067800-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8337 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
51656415-51738680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51707955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 147
(K147E)
|
| 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: K147E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: K147E
| 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 |
possibly damaging
Transcript: ENSMUST00000169503
AA Change: K147E
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: K147E
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
C |
16: 88,556,151 (GRCm39) |
Y122H |
probably damaging |
Het |
| Abhd14b |
T |
A |
9: 106,327,240 (GRCm39) |
H7Q |
probably benign |
Het |
| Acod1 |
C |
T |
14: 103,286,780 (GRCm39) |
R28W |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,924,194 (GRCm39) |
T803A |
unknown |
Het |
| Angptl7 |
T |
C |
4: 148,581,741 (GRCm39) |
E215G |
probably damaging |
Het |
| Ankrd34c |
T |
A |
9: 89,611,951 (GRCm39) |
D130V |
probably damaging |
Het |
| BC028528 |
A |
G |
3: 95,792,298 (GRCm39) |
V144A |
probably benign |
Het |
| Cab39l |
T |
C |
14: 59,776,640 (GRCm39) |
F274L |
probably damaging |
Het |
| Cdsn |
T |
C |
17: 35,866,415 (GRCm39) |
S315P |
possibly damaging |
Het |
| Celsr3 |
CGGGG |
CGGGGG |
9: 108,718,471 (GRCm39) |
|
probably null |
Het |
| Cep97 |
A |
T |
16: 55,735,394 (GRCm39) |
L540* |
probably null |
Het |
| Chrna2 |
G |
T |
14: 66,387,017 (GRCm39) |
E388* |
probably null |
Het |
| Ckap4 |
A |
G |
10: 84,364,460 (GRCm39) |
V201A |
probably damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,042,922 (GRCm39) |
K47R |
probably benign |
Het |
| Clvs2 |
A |
T |
10: 33,404,484 (GRCm39) |
I244N |
possibly damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,893,151 (GRCm39) |
E57K |
probably benign |
Het |
| Cxxc1 |
T |
A |
18: 74,353,910 (GRCm39) |
D565E |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,754,073 (GRCm39) |
M178L |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,930,161 (GRCm39) |
D294G |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,269,698 (GRCm39) |
|
probably null |
Het |
| Frs3 |
T |
A |
17: 48,014,777 (GRCm39) |
L490Q |
probably damaging |
Het |
| Gm6882 |
G |
A |
7: 21,161,559 (GRCm39) |
T103I |
possibly damaging |
Het |
| Gsdmd |
C |
T |
15: 75,736,270 (GRCm39) |
T133I |
probably benign |
Het |
| Hhipl2 |
C |
A |
1: 183,209,540 (GRCm39) |
C331* |
probably null |
Het |
| Ifnar1 |
C |
A |
16: 91,302,224 (GRCm39) |
D566E |
possibly damaging |
Het |
| Ighv1-34 |
A |
T |
12: 114,814,939 (GRCm39) |
N74K |
probably benign |
Het |
| Itk |
T |
C |
11: 46,233,222 (GRCm39) |
|
probably null |
Het |
| Kdm7a |
T |
C |
6: 39,122,461 (GRCm39) |
D801G |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,871,641 (GRCm39) |
L139P |
probably damaging |
Het |
| Metap1d |
T |
C |
2: 71,345,982 (GRCm39) |
V181A |
probably damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mrps25 |
T |
C |
6: 92,152,745 (GRCm39) |
T92A |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,948,486 (GRCm39) |
H371R |
possibly damaging |
Het |
| Ntng2 |
C |
A |
2: 29,138,050 (GRCm39) |
M1I |
probably null |
Het |
| Or51b17 |
C |
T |
7: 103,542,256 (GRCm39) |
G229R |
probably benign |
Het |
| Or51q1 |
A |
C |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or8b57 |
T |
C |
9: 40,003,695 (GRCm39) |
K189R |
probably benign |
Het |
| Pla2g12a |
A |
G |
3: 129,672,465 (GRCm39) |
D33G |
probably damaging |
Het |
| Prlhr |
A |
G |
19: 60,456,284 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,292,192 (GRCm39) |
S793T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,522,127 (GRCm39) |
L455* |
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,040,669 (GRCm39) |
H386R |
probably benign |
Het |
| Sec23ip |
C |
A |
7: 128,365,749 (GRCm39) |
N539K |
probably damaging |
Het |
| Shisa4 |
A |
G |
1: 135,300,907 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc28a2b |
C |
T |
2: 122,355,617 (GRCm39) |
T603I |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,510,306 (GRCm39) |
F296I |
probably damaging |
Het |
| Taf5l |
T |
C |
8: 124,724,841 (GRCm39) |
N326S |
probably benign |
Het |
| Tfb2m |
T |
A |
1: 179,369,914 (GRCm39) |
I170L |
probably benign |
Het |
| Tfec |
T |
C |
6: 16,845,422 (GRCm39) |
N79S |
possibly damaging |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Tox3 |
T |
C |
8: 91,074,507 (GRCm39) |
Y24C |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,463,526 (GRCm39) |
L436* |
probably null |
Het |
| Vmn2r80 |
A |
G |
10: 78,984,707 (GRCm39) |
I20V |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,245,684 (GRCm39) |
V1307A |
|
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 |
|
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'- TTGAGAGGCAGATGAAACAAATTT -3'
(R):5'- ACATACCTGTATTTGTTACTTGGGT -3'
Sequencing Primer
(F):5'- TTCCCAGAATCGACATTGGG -3'
(R):5'- TGGAGTAATGCATAGCAGT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation