Incidental Mutation 'IGL01748:Strn4'
| ID |
153075 |
| 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 # |
IGL01748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16549814-16574856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 16572227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 647
(P647S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019220]
[ENSMUST00000086104]
[ENSMUST00000108495]
[ENSMUST00000168093]
[ENSMUST00000185011]
|
| AlphaFold |
P58404 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019220
AA Change: P654S
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374
AA Change: P654S
| 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 benign
Transcript: ENSMUST00000086104
|
| SMART Domains |
Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
C1
|
139 |
188 |
2.87e-11 |
SMART |
|
C1
|
266 |
315 |
1.28e-17 |
SMART |
|
low complexity region
|
353 |
373 |
N/A |
INTRINSIC |
|
PH
|
399 |
512 |
2.07e-6 |
SMART |
|
S_TKc
|
552 |
808 |
6.12e-92 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108495
AA Change: P647S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104135
Gene: ENSMUSG00000030374
AA Change: P647S
| 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 |
probably benign
Transcript: ENSMUST00000168093
|
| SMART Domains |
Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
C1
|
139 |
188 |
2.87e-11 |
SMART |
|
C1
|
266 |
315 |
1.28e-17 |
SMART |
|
low complexity region
|
353 |
373 |
N/A |
INTRINSIC |
|
PH
|
399 |
512 |
2.07e-6 |
SMART |
|
S_TKc
|
552 |
808 |
6.12e-92 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000184694
AA Change: P91S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184708
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,420,206 (GRCm39) |
|
probably benign |
Het |
| Asb1 |
G |
A |
1: 91,480,008 (GRCm39) |
V236I |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,974,304 (GRCm39) |
R2337C |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,980,834 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
T |
C |
15: 77,836,546 (GRCm39) |
D323G |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,116 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
T |
A |
5: 25,452,513 (GRCm39) |
Y8* |
probably null |
Het |
| Gm42688 |
T |
A |
6: 83,080,001 (GRCm39) |
S275T |
possibly damaging |
Het |
| Grip2 |
C |
T |
6: 91,741,724 (GRCm39) |
G934R |
probably damaging |
Het |
| Igkv1-122 |
G |
T |
6: 67,994,456 (GRCm39) |
V115F |
possibly damaging |
Het |
| Iglon5 |
C |
T |
7: 43,125,953 (GRCm39) |
|
probably benign |
Het |
| Nbl1 |
G |
T |
4: 138,810,921 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,279,875 (GRCm39) |
L130P |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,087,476 (GRCm39) |
N61D |
probably benign |
Het |
| Rfng |
A |
G |
11: 120,674,569 (GRCm39) |
M104T |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,150 (GRCm39) |
F1224S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,616,306 (GRCm39) |
V474A |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,470 (GRCm39) |
T80S |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,770,150 (GRCm39) |
E2757G |
probably damaging |
Het |
| Vmn1r43 |
G |
T |
6: 89,847,294 (GRCm39) |
T64N |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,476 (GRCm39) |
I576N |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,507 (GRCm39) |
I803N |
probably damaging |
Het |
| Zfp341 |
T |
C |
2: 154,470,847 (GRCm39) |
V288A |
probably damaging |
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 |
|
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 |
2014-02-04 |
Incidental Mutation