Incidental Mutation 'IGL01593:Ston1'
| ID |
91655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ston1
|
| Ensembl Gene |
ENSMUSG00000033855 |
| Gene Name |
stonin 1 |
| Synonyms |
4921524J06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
IGL01593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
88905043-88955293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88944438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 615
(G615R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064035]
[ENSMUST00000137138]
[ENSMUST00000150023]
[ENSMUST00000163588]
|
| AlphaFold |
Q8CDJ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064035
AA Change: G615R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855
AA Change: G615R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
Pfam:Adap_comp_sub
|
396 |
707 |
5.5e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112216
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132384
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137138
|
| SMART Domains |
Protein: ENSMUSP00000118522
Gene: ENSMUSG00000033855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150023
AA Change: G615R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855
AA Change: G615R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
Pfam:Adap_comp_sub
|
396 |
707 |
5.5e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153613
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163588
AA Change: G615R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855
AA Change: G615R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
Pfam:Adap_comp_sub
|
396 |
711 |
2.1e-64 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are overtly normal. Mouse embryonic fibroblasts derived from homozygous null mice display alterations in focal adhesion dynamics and an increase in cellular signaling and directional cell migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
| Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
| Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
| Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
| Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
| Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
| Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
| Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
| Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
| Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
| Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
probably damaging |
Het |
|
| Other mutations in Ston1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Ston1
|
APN |
17 |
88,951,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB010:Ston1
|
UTSW |
17 |
88,943,572 (GRCm39) |
missense |
probably benign |
0.10 |
|
BB020:Ston1
|
UTSW |
17 |
88,943,572 (GRCm39) |
missense |
probably benign |
0.10 |
|
FR4449:Ston1
|
UTSW |
17 |
88,942,953 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0610:Ston1
|
UTSW |
17 |
88,942,709 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1421:Ston1
|
UTSW |
17 |
88,943,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1620:Ston1
|
UTSW |
17 |
88,943,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2002:Ston1
|
UTSW |
17 |
88,942,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3108:Ston1
|
UTSW |
17 |
88,943,583 (GRCm39) |
nonsense |
probably null |
|
|
R3766:Ston1
|
UTSW |
17 |
88,942,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4222:Ston1
|
UTSW |
17 |
88,944,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4335:Ston1
|
UTSW |
17 |
88,943,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Ston1
|
UTSW |
17 |
88,944,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Ston1
|
UTSW |
17 |
88,943,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Ston1
|
UTSW |
17 |
88,952,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5084:Ston1
|
UTSW |
17 |
88,944,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5434:Ston1
|
UTSW |
17 |
88,952,739 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5700:Ston1
|
UTSW |
17 |
88,951,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Ston1
|
UTSW |
17 |
88,943,059 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5863:Ston1
|
UTSW |
17 |
88,943,373 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6458:Ston1
|
UTSW |
17 |
88,942,731 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6459:Ston1
|
UTSW |
17 |
88,943,896 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7012:Ston1
|
UTSW |
17 |
88,943,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Ston1
|
UTSW |
17 |
88,943,329 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7825:Ston1
|
UTSW |
17 |
88,943,881 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7933:Ston1
|
UTSW |
17 |
88,943,572 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8505:Ston1
|
UTSW |
17 |
88,943,017 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8876:Ston1
|
UTSW |
17 |
88,942,600 (GRCm39) |
missense |
probably benign |
|
|
R9050:Ston1
|
UTSW |
17 |
88,944,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9429:Ston1
|
UTSW |
17 |
88,943,034 (GRCm39) |
missense |
probably benign |
|
|
R9798:Ston1
|
UTSW |
17 |
88,944,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation