Incidental Mutation 'R9518:Strn3'
| ID |
718724 |
| 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 # |
R9518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
51656415-51738680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 51696956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 258
(D258E)
|
| 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: D258E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: D258E
| 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: D258E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: D258E
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,771,560 (GRCm39) |
T556A |
possibly damaging |
Het |
| B230104I21Rik |
G |
T |
4: 154,434,004 (GRCm39) |
E63* |
probably null |
Het |
| Brd10 |
A |
T |
19: 29,731,541 (GRCm39) |
H490Q |
possibly damaging |
Het |
| Brpf1 |
A |
G |
6: 113,286,795 (GRCm39) |
K8E |
possibly damaging |
Het |
| Cacna1i |
G |
A |
15: 80,271,978 (GRCm39) |
G1582D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,465,572 (GRCm39) |
D1428V |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 22,278,516 (GRCm39) |
T69I |
possibly damaging |
Het |
| Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
| Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
| Cps1 |
G |
T |
1: 67,259,662 (GRCm39) |
V1335L |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,015,492 (GRCm39) |
N4S |
probably benign |
Het |
| Dlx6 |
C |
A |
6: 6,863,406 (GRCm39) |
D9E |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,495,713 (GRCm39) |
D198A |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
T |
C |
9: 64,981,866 (GRCm39) |
M716T |
possibly damaging |
Het |
| Dvl3 |
T |
A |
16: 20,335,961 (GRCm39) |
I6N |
possibly damaging |
Het |
| Egflam |
A |
G |
15: 7,319,263 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
A |
T |
1: 185,111,763 (GRCm39) |
M258L |
probably benign |
Het |
| Etnk1 |
A |
T |
6: 143,149,144 (GRCm39) |
M352L |
probably benign |
Het |
| Fam124a |
A |
C |
14: 62,824,947 (GRCm39) |
D147A |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,056,647 (GRCm39) |
D468G |
possibly damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,469 (GRCm39) |
Q475L |
probably benign |
Het |
| Kel |
T |
C |
6: 41,679,334 (GRCm39) |
E143G |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,840,676 (GRCm39) |
Y1147H |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,519,827 (GRCm39) |
K1729E |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,693,496 (GRCm39) |
R433H |
probably benign |
Het |
| Mettl14 |
T |
C |
3: 123,167,687 (GRCm39) |
I224V |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,869,299 (GRCm39) |
N614S |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,313,004 (GRCm39) |
V1061I |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,022,748 (GRCm39) |
C32S |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,497,588 (GRCm39) |
V27A |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,367 (GRCm39) |
H956Q |
probably benign |
Het |
| Or11h7 |
A |
T |
14: 50,891,101 (GRCm39) |
M136L |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,120 (GRCm39) |
N172S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 58,070,513 (GRCm39) |
T1064S |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,280 (GRCm39) |
E314G |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pgr |
A |
T |
9: 8,922,645 (GRCm39) |
D605V |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,860,579 (GRCm39) |
S904G |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,394,486 (GRCm39) |
I1807T |
possibly damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,200,468 (GRCm39) |
Q225L |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,320,612 (GRCm39) |
I147T |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,985,049 (GRCm39) |
R19H |
probably benign |
Het |
| Themis |
T |
A |
10: 28,544,748 (GRCm39) |
|
probably null |
Het |
| Trim28 |
C |
T |
7: 12,764,445 (GRCm39) |
P753S |
probably damaging |
Het |
| Vac14 |
C |
T |
8: 111,442,070 (GRCm39) |
Q683* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp541 |
T |
C |
7: 15,813,036 (GRCm39) |
I563T |
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 |
|
|
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 |
|
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'- GCCATATGTACATGAACGGAGTAGG -3'
(R):5'- GCAGATGCCACCTTCAAGTAG -3'
Sequencing Primer
(F):5'- GGAGCTGGCAGTTATTATAAACC -3'
(R):5'- ACTTGTCTAGCATGTGTGACATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation