Incidental Mutation 'PIT4519001:Strn3'
| ID |
555132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn3
|
| Ensembl Gene |
ENSMUSG00000020954 |
| Gene Name |
striatin, calmodulin binding protein 3 |
| Synonyms |
SG2NA |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4519001 (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 51680491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 370
(T370A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013130]
[ENSMUST00000169503]
|
| AlphaFold |
Q9ERG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013130
AA Change: T370A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: T370A
| 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 |
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 90.9%
- 10x: 84.7%
- 20x: 70.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,217,440 (GRCm39) |
M803K |
probably benign |
Het |
| 4930590J08Rik |
C |
A |
6: 91,894,038 (GRCm39) |
N218K |
probably damaging |
Het |
| Abcc2 |
G |
A |
19: 43,807,836 (GRCm39) |
V826M |
possibly damaging |
Het |
| Abcg2 |
T |
C |
6: 58,651,792 (GRCm39) |
S395P |
probably damaging |
Het |
| Adam1b |
C |
T |
5: 121,640,010 (GRCm39) |
G345D |
probably damaging |
Het |
| Alx4 |
T |
A |
2: 93,505,773 (GRCm39) |
C292S |
probably benign |
Het |
| Amd2 |
C |
A |
10: 35,586,627 (GRCm39) |
C310F |
possibly damaging |
Het |
| BC051665 |
A |
T |
13: 60,931,989 (GRCm39) |
S137T |
possibly damaging |
Het |
| Bmp1 |
A |
G |
14: 70,727,469 (GRCm39) |
F705L |
possibly damaging |
Het |
| Coil |
C |
T |
11: 88,863,552 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
G |
A |
9: 105,609,462 (GRCm39) |
P1609S |
probably benign |
Het |
| Cpt1b |
A |
T |
15: 89,303,066 (GRCm39) |
F633I |
probably damaging |
Het |
| Dcun1d2 |
A |
T |
8: 13,311,406 (GRCm39) |
D194E |
probably benign |
Het |
| Defb4 |
A |
G |
8: 19,248,752 (GRCm39) |
R2G |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,162,897 (GRCm39) |
V506A |
probably benign |
Het |
| Dop1b |
A |
G |
16: 93,558,942 (GRCm39) |
S563G |
probably benign |
Het |
| Dpp7 |
C |
A |
2: 25,242,460 (GRCm39) |
G498W |
probably damaging |
Het |
| Fam210a |
A |
T |
18: 68,409,020 (GRCm39) |
S97T |
possibly damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,520,501 (GRCm39) |
D767V |
probably damaging |
Het |
| Fgg |
A |
T |
3: 82,920,246 (GRCm39) |
N342Y |
probably damaging |
Het |
| Gimap6 |
T |
G |
6: 48,684,995 (GRCm39) |
R30S |
probably benign |
Het |
| Gm10840 |
T |
C |
11: 106,051,959 (GRCm39) |
V95A |
unknown |
Het |
| Herc3 |
T |
A |
6: 58,853,796 (GRCm39) |
I614N |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,097,556 (GRCm39) |
S1233R |
possibly damaging |
Het |
| Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,866,344 (GRCm39) |
K1078N |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,570,783 (GRCm39) |
E838V |
probably damaging |
Het |
| Mmp20 |
A |
G |
9: 7,628,302 (GRCm39) |
K17E |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,608,957 (GRCm39) |
R1538W |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,005,424 (GRCm39) |
T296I |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,784,171 (GRCm39) |
S1054G |
probably benign |
Het |
| Or10ac1 |
T |
C |
6: 42,515,534 (GRCm39) |
T141A |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,578 (GRCm39) |
C138R |
probably damaging |
Het |
| Or5b109 |
A |
C |
19: 13,212,216 (GRCm39) |
I201L |
probably benign |
Het |
| Or6f1 |
T |
C |
7: 85,970,941 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pipox |
C |
A |
11: 77,774,001 (GRCm39) |
W205L |
probably damaging |
Het |
| Plin4 |
T |
G |
17: 56,410,828 (GRCm39) |
T1068P |
probably benign |
Het |
| Pou6f2 |
A |
G |
13: 18,414,149 (GRCm39) |
S209P |
unknown |
Het |
| Ptpdc1 |
T |
C |
13: 48,736,632 (GRCm39) |
T713A |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,701,716 (GRCm39) |
Y246C |
possibly damaging |
Het |
| Rnf19b |
C |
T |
4: 128,969,446 (GRCm39) |
A354V |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,126 (GRCm39) |
T346A |
probably benign |
Het |
| Rsrc2 |
T |
C |
5: 123,883,135 (GRCm39) |
T16A |
unknown |
Het |
| Scrn3 |
T |
C |
2: 73,148,768 (GRCm39) |
V113A |
possibly damaging |
Het |
| Scrn3 |
T |
A |
2: 73,161,347 (GRCm39) |
I311K |
possibly damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,506,148 (GRCm39) |
|
probably null |
Het |
| Sin3a |
A |
G |
9: 57,002,740 (GRCm39) |
I211V |
possibly damaging |
Het |
| Sulf1 |
T |
G |
1: 12,918,395 (GRCm39) |
N786K |
probably damaging |
Het |
| Taf1b |
T |
A |
12: 24,597,118 (GRCm39) |
Y352* |
probably null |
Het |
| Tas2r120 |
T |
A |
6: 132,634,297 (GRCm39) |
N126K |
probably benign |
Het |
| Tjap1 |
C |
A |
17: 46,572,432 (GRCm39) |
R68L |
probably benign |
Het |
| Tnfsf12 |
C |
T |
11: 69,586,230 (GRCm39) |
R66Q |
probably benign |
Het |
| Traj45 |
A |
G |
14: 54,410,303 (GRCm39) |
D6G |
|
Het |
| Trappc9 |
T |
C |
15: 72,824,943 (GRCm39) |
T541A |
probably benign |
Het |
| Ttc29 |
A |
C |
8: 79,052,106 (GRCm39) |
E329A |
probably benign |
Het |
| Vmn1r117 |
T |
G |
7: 20,617,160 (GRCm39) |
D296A |
possibly damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,765 (GRCm39) |
N182S |
probably benign |
Het |
| Vps53 |
C |
A |
11: 76,007,999 (GRCm39) |
R287L |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,641,946 (GRCm39) |
E891K |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,079,783 (GRCm39) |
N334S |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,687 (GRCm39) |
H282R |
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 |
|
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 |
|
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'- TGAGCAATTACACCAAGAGCTC -3'
(R):5'- TTCACTGATCTATCCACAAAGAGCC -3'
Sequencing Primer
(F):5'- CTTCAGCATTTTATACAACAGCATG -3'
(R):5'- TCTATCCACAAAGAGCCACAGAATAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation