Incidental Mutation 'IGL03227:Strn4'
ID |
414147 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Strn4
|
Ensembl Gene |
ENSMUSG00000030374 |
Gene Name |
striatin, calmodulin binding protein 4 |
Synonyms |
ZIN, zinedin |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
IGL03227
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16549814-16574856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16571639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 590
(T590A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019220]
[ENSMUST00000108495]
[ENSMUST00000185011]
|
AlphaFold |
P58404 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019220
AA Change: T590A
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000019220 Gene: ENSMUSG00000030374 AA Change: T590A
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
21 |
60 |
N/A |
INTRINSIC |
Pfam:Striatin
|
64 |
193 |
1.2e-44 |
PFAM |
low complexity region
|
217 |
236 |
N/A |
INTRINSIC |
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
low complexity region
|
367 |
382 |
N/A |
INTRINSIC |
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
WD40
|
434 |
473 |
5.72e-9 |
SMART |
WD40
|
487 |
526 |
6.53e-4 |
SMART |
WD40
|
540 |
579 |
6.99e-13 |
SMART |
WD40
|
584 |
626 |
2.38e1 |
SMART |
WD40
|
629 |
672 |
3.55e1 |
SMART |
WD40
|
675 |
714 |
5.34e-9 |
SMART |
WD40
|
717 |
760 |
1.58e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108495
AA Change: T583A
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104135 Gene: ENSMUSG00000030374 AA Change: T583A
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
21 |
60 |
N/A |
INTRINSIC |
Pfam:Striatin
|
64 |
197 |
1.4e-45 |
PFAM |
low complexity region
|
217 |
236 |
N/A |
INTRINSIC |
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
low complexity region
|
367 |
382 |
N/A |
INTRINSIC |
low complexity region
|
409 |
422 |
N/A |
INTRINSIC |
WD40
|
427 |
466 |
5.72e-9 |
SMART |
WD40
|
480 |
519 |
6.53e-4 |
SMART |
WD40
|
533 |
572 |
6.99e-13 |
SMART |
WD40
|
577 |
619 |
2.38e1 |
SMART |
WD40
|
622 |
665 |
3.55e1 |
SMART |
WD40
|
668 |
707 |
5.34e-9 |
SMART |
WD40
|
710 |
753 |
1.58e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123510
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131721
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183680
|
Predicted Effect |
unknown
Transcript: ENSMUST00000184694
AA Change: T27A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185011
|
SMART Domains |
Protein: ENSMUSP00000139290 Gene: ENSMUSG00000030374
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184708
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
C |
T |
1: 25,586,556 (GRCm39) |
G172E |
probably damaging |
Het |
Alas2 |
A |
G |
X: 149,340,262 (GRCm39) |
K151E |
probably damaging |
Het |
Apob |
A |
G |
12: 8,066,089 (GRCm39) |
T4353A |
probably benign |
Het |
Arhgef1 |
C |
A |
7: 24,622,276 (GRCm39) |
D554E |
probably damaging |
Het |
Atad2b |
T |
A |
12: 5,056,715 (GRCm39) |
L857Q |
probably damaging |
Het |
Atp2b4 |
C |
A |
1: 133,657,445 (GRCm39) |
|
probably benign |
Het |
Bche |
C |
A |
3: 73,608,945 (GRCm39) |
K160N |
probably damaging |
Het |
Bmx |
A |
G |
X: 162,986,192 (GRCm39) |
M537T |
probably damaging |
Het |
Bysl |
T |
C |
17: 47,922,017 (GRCm39) |
N27S |
probably benign |
Het |
Ccdc110 |
T |
A |
8: 46,394,586 (GRCm39) |
L159H |
probably damaging |
Het |
Cd34 |
G |
A |
1: 194,640,771 (GRCm39) |
C212Y |
probably damaging |
Het |
Erich2 |
C |
T |
2: 70,343,114 (GRCm39) |
|
probably benign |
Het |
Fap |
T |
A |
2: 62,361,107 (GRCm39) |
|
probably null |
Het |
Fitm2 |
T |
C |
2: 163,311,452 (GRCm39) |
T254A |
probably benign |
Het |
Fscn3 |
T |
C |
6: 28,434,429 (GRCm39) |
S335P |
probably benign |
Het |
Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
Lbr |
T |
C |
1: 181,663,620 (GRCm39) |
|
probably null |
Het |
Lct |
A |
T |
1: 128,255,426 (GRCm39) |
F205L |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,958,435 (GRCm39) |
I550N |
probably benign |
Het |
Med13 |
A |
G |
11: 86,218,618 (GRCm39) |
|
probably benign |
Het |
Msh3 |
A |
T |
13: 92,422,468 (GRCm39) |
S563T |
probably damaging |
Het |
Msra |
A |
G |
14: 64,551,192 (GRCm39) |
V50A |
probably benign |
Het |
Or7g25 |
A |
G |
9: 19,160,518 (GRCm39) |
M59T |
probably damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,576,711 (GRCm39) |
V363E |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,257,677 (GRCm39) |
T347M |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,999,920 (GRCm39) |
|
probably benign |
Het |
Rtl9 |
A |
C |
X: 141,882,824 (GRCm39) |
T79P |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,576,410 (GRCm39) |
|
probably null |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Smurf1 |
G |
T |
5: 144,835,992 (GRCm39) |
P123H |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,796,483 (GRCm39) |
S780P |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,764,143 (GRCm39) |
Y250H |
probably benign |
Het |
Zfp770 |
A |
T |
2: 114,027,570 (GRCm39) |
C166* |
probably null |
Het |
|
Other mutations in Strn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:Strn4
|
APN |
7 |
16,564,377 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01153:Strn4
|
APN |
7 |
16,571,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01748:Strn4
|
APN |
7 |
16,572,227 (GRCm39) |
missense |
probably damaging |
1.00 |
BB004:Strn4
|
UTSW |
7 |
16,560,556 (GRCm39) |
missense |
probably null |
1.00 |
BB014:Strn4
|
UTSW |
7 |
16,560,556 (GRCm39) |
missense |
probably null |
1.00 |
PIT4260001:Strn4
|
UTSW |
7 |
16,556,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R0948:Strn4
|
UTSW |
7 |
16,571,638 (GRCm39) |
nonsense |
probably null |
|
R1876:Strn4
|
UTSW |
7 |
16,572,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R1918:Strn4
|
UTSW |
7 |
16,567,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R2015:Strn4
|
UTSW |
7 |
16,566,953 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2250:Strn4
|
UTSW |
7 |
16,560,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R3435:Strn4
|
UTSW |
7 |
16,571,558 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3686:Strn4
|
UTSW |
7 |
16,556,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R3688:Strn4
|
UTSW |
7 |
16,556,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R3887:Strn4
|
UTSW |
7 |
16,556,923 (GRCm39) |
unclassified |
probably benign |
|
R4613:Strn4
|
UTSW |
7 |
16,558,088 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4730:Strn4
|
UTSW |
7 |
16,562,719 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5590:Strn4
|
UTSW |
7 |
16,567,799 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5924:Strn4
|
UTSW |
7 |
16,572,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R6327:Strn4
|
UTSW |
7 |
16,550,384 (GRCm39) |
missense |
probably benign |
0.00 |
R6759:Strn4
|
UTSW |
7 |
16,556,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R6866:Strn4
|
UTSW |
7 |
16,562,710 (GRCm39) |
missense |
probably damaging |
0.97 |
R6976:Strn4
|
UTSW |
7 |
16,564,279 (GRCm39) |
missense |
probably benign |
0.20 |
R7759:Strn4
|
UTSW |
7 |
16,564,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R7779:Strn4
|
UTSW |
7 |
16,565,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:Strn4
|
UTSW |
7 |
16,560,556 (GRCm39) |
missense |
probably null |
1.00 |
R8174:Strn4
|
UTSW |
7 |
16,562,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Strn4
|
UTSW |
7 |
16,550,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777-TAIL:Strn4
|
UTSW |
7 |
16,550,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R8868:Strn4
|
UTSW |
7 |
16,560,570 (GRCm39) |
missense |
probably benign |
0.25 |
R9226:Strn4
|
UTSW |
7 |
16,559,722 (GRCm39) |
intron |
probably benign |
|
R9341:Strn4
|
UTSW |
7 |
16,573,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R9343:Strn4
|
UTSW |
7 |
16,573,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R9718:Strn4
|
UTSW |
7 |
16,572,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |