Incidental Mutation 'R8876:Ston1'
| ID |
676602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ston1
|
| Ensembl Gene |
ENSMUSG00000033855 |
| Gene Name |
stonin 1 |
| Synonyms |
4921524J06Rik |
| MMRRC Submission |
068688-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R8876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
88905043-88955293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88942600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 2
(Y2C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064035]
[ENSMUST00000137138]
[ENSMUST00000150023]
[ENSMUST00000163588]
|
| AlphaFold |
Q8CDJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064035
AA Change: Y2C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855
AA Change: Y2C
| 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 |
probably benign
Transcript: ENSMUST00000137138
AA Change: Y2C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118522
Gene: ENSMUSG00000033855
AA Change: Y2C
| 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 benign
Transcript: ENSMUST00000150023
AA Change: Y2C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855
AA Change: Y2C
| 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 |
probably benign
Transcript: ENSMUST00000163588
AA Change: Y2C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855
AA Change: Y2C
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
C |
2: 93,668,403 (GRCm39) |
L356R |
probably damaging |
Het |
| Acvr1 |
A |
T |
2: 58,338,422 (GRCm39) |
D433E |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,502 (GRCm39) |
L122P |
probably damaging |
Het |
| Ap3b1 |
T |
G |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
| Apbb2 |
A |
G |
5: 66,609,000 (GRCm39) |
S216P |
probably benign |
Het |
| Arap3 |
T |
A |
18: 38,130,077 (GRCm39) |
H28L |
possibly damaging |
Het |
| Arhgap44 |
C |
T |
11: 64,898,896 (GRCm39) |
M760I |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,975,193 (GRCm39) |
A304S |
probably benign |
Het |
| Atpaf1 |
T |
C |
4: 115,645,548 (GRCm39) |
I139T |
possibly damaging |
Het |
| BC024139 |
G |
T |
15: 76,010,320 (GRCm39) |
T62K |
possibly damaging |
Het |
| Bmal2 |
G |
A |
6: 146,723,492 (GRCm39) |
G274D |
probably benign |
Het |
| Capn5 |
T |
C |
7: 97,780,902 (GRCm39) |
T292A |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,358,814 (GRCm39) |
N53S |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,467 (GRCm39) |
V232A |
possibly damaging |
Het |
| Cfap298 |
A |
G |
16: 90,724,281 (GRCm39) |
I164T |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,777,360 (GRCm39) |
T837K |
probably benign |
Het |
| Col8a2 |
G |
C |
4: 126,204,647 (GRCm39) |
G219A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,206,951 (GRCm39) |
S365P |
|
Het |
| Dnah2 |
T |
C |
11: 69,382,348 (GRCm39) |
D1254G |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,420,828 (GRCm39) |
L1686S |
probably damaging |
Het |
| Fgr |
A |
G |
4: 132,726,071 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
A |
2: 4,606,111 (GRCm39) |
S612T |
probably damaging |
Het |
| Gadd45gip1 |
T |
C |
8: 85,560,748 (GRCm39) |
I121T |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,568,560 (GRCm39) |
V1353A |
possibly damaging |
Het |
| Gdf3 |
G |
A |
6: 122,583,942 (GRCm39) |
P142S |
probably damaging |
Het |
| Gm19965 |
G |
A |
1: 116,749,776 (GRCm39) |
G486R |
unknown |
Het |
| Gpatch2l |
T |
C |
12: 86,308,405 (GRCm39) |
L307P |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,561,580 (GRCm39) |
K757E |
probably damaging |
Het |
| Inppl1 |
T |
A |
7: 101,472,750 (GRCm39) |
H1218L |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,873,257 (GRCm39) |
I1055V |
probably benign |
Het |
| Krtap9-5 |
G |
T |
11: 99,840,340 (GRCm39) |
C347F |
unknown |
Het |
| Magi2 |
T |
A |
5: 20,856,190 (GRCm39) |
Y1050* |
probably null |
Het |
| Myrf |
A |
G |
19: 10,206,378 (GRCm39) |
|
probably benign |
Het |
| Ntpcr |
T |
G |
8: 126,464,785 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,902,716 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or1p1b |
C |
T |
11: 74,130,846 (GRCm39) |
T152I |
probably damaging |
Het |
| Or2y1c |
T |
C |
11: 49,361,386 (GRCm39) |
M136T |
probably damaging |
Het |
| Palmd |
T |
G |
3: 116,720,899 (GRCm39) |
D145A |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,980,155 (GRCm39) |
S21P |
probably benign |
Het |
| Pkn1 |
T |
C |
8: 84,398,879 (GRCm39) |
T696A |
possibly damaging |
Het |
| Pnpt1 |
T |
A |
11: 29,096,769 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,049,146 (GRCm39) |
I273F |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,323,403 (GRCm39) |
D1382E |
probably benign |
Het |
| Slc16a4 |
A |
T |
3: 107,208,101 (GRCm39) |
N204Y |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,514,091 (GRCm39) |
I44V |
possibly damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,685,166 (GRCm39) |
V312A |
probably damaging |
Het |
| Syde1 |
A |
T |
10: 78,425,325 (GRCm39) |
Y229N |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,489 (GRCm39) |
C1853S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,609,249 (GRCm39) |
I17650T |
possibly damaging |
Het |
| Upf1 |
T |
C |
8: 70,796,918 (GRCm39) |
E105G |
possibly damaging |
Het |
| Wrn |
A |
G |
8: 33,814,422 (GRCm39) |
W341R |
probably benign |
Het |
| Xndc1 |
C |
T |
7: 101,729,754 (GRCm39) |
P267L |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,896 (GRCm39) |
T47A |
probably benign |
Het |
| Zc3h10 |
A |
T |
10: 128,380,163 (GRCm39) |
V398E |
probably damaging |
Het |
| Zfp652 |
G |
T |
11: 95,639,921 (GRCm39) |
|
probably benign |
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 |
|
IGL01593:Ston1
|
APN |
17 |
88,944,438 (GRCm39) |
missense |
probably null |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCTGGCTTTGTAACTTTCTGAC -3'
(R):5'- AATCCACCATGGGAGAGGAC -3'
Sequencing Primer
(F):5'- TGTAGAGTGTGGCGCTCCC -3'
(R):5'- CCATGGGAGAGGACAGGGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation