Incidental Mutation 'IGL00776:Strn4'
ID |
14288 |
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 # |
IGL00776
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16549814-16574856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 16564377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 185
(R185C)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019220]
[ENSMUST00000108495]
[ENSMUST00000185011]
|
AlphaFold |
P58404 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019220
AA Change: R336C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019220 Gene: ENSMUSG00000030374 AA Change: R336C
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 |
probably damaging
Transcript: ENSMUST00000108495
AA Change: R336C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104135 Gene: ENSMUSG00000030374 AA Change: R336C
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: ENSMUST00000123247
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123510
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134350
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000184708
AA Change: R185C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138070
|
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: ENSMUST00000184280
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
T |
2: 19,545,182 (GRCm39) |
D90E |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,883,589 (GRCm39) |
S560G |
probably damaging |
Het |
Ankrd24 |
A |
C |
10: 81,478,979 (GRCm39) |
|
probably benign |
Het |
Atp8a1 |
A |
T |
5: 67,906,486 (GRCm39) |
I461N |
probably benign |
Het |
Eif4a1 |
G |
A |
11: 69,559,922 (GRCm39) |
L166F |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,328,320 (GRCm39) |
H1542Q |
probably benign |
Het |
Itih4 |
G |
A |
14: 30,611,561 (GRCm39) |
V95I |
probably benign |
Het |
Kcnh7 |
A |
G |
2: 62,680,720 (GRCm39) |
I289T |
probably benign |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Mterf1a |
A |
C |
5: 3,941,809 (GRCm39) |
W20G |
possibly damaging |
Het |
Slc24a5 |
T |
C |
2: 124,922,809 (GRCm39) |
S161P |
probably damaging |
Het |
Slc25a21 |
G |
A |
12: 56,816,990 (GRCm39) |
T99I |
probably benign |
Het |
Smurf1 |
A |
G |
5: 144,818,584 (GRCm39) |
S619P |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,332,795 (GRCm39) |
|
probably null |
Het |
Tctn3 |
A |
G |
19: 40,585,865 (GRCm39) |
F560S |
probably damaging |
Het |
|
Other mutations in Strn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03227:Strn4
|
APN |
7 |
16,571,639 (GRCm39) |
missense |
possibly damaging |
0.79 |
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 |
2012-12-06 |