Incidental Mutation 'R6459:Ston1'
| ID |
517539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ston1
|
| Ensembl Gene |
ENSMUSG00000033855 |
| Gene Name |
stonin 1 |
| Synonyms |
4921524J06Rik |
| MMRRC Submission |
044594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R6459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
88905043-88955293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88943896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 434
(V434A)
|
| 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: V434A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855
AA Change: V434A
| 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 benign
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 benign
Transcript: ENSMUST00000150023
AA Change: V434A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855
AA Change: V434A
| 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 benign
Transcript: ENSMUST00000163588
AA Change: V434A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855
AA Change: V434A
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
C |
A |
11: 76,315,815 (GRCm39) |
R583L |
probably damaging |
Het |
| Acss1 |
A |
G |
2: 150,509,840 (GRCm39) |
I93T |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,827,577 (GRCm39) |
|
probably benign |
Het |
| Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
| Atl3 |
A |
T |
19: 7,498,163 (GRCm39) |
E186D |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,411,887 (GRCm39) |
K41E |
probably benign |
Het |
| Atp9a |
G |
A |
2: 168,509,933 (GRCm39) |
P500L |
probably damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,832,246 (GRCm39) |
V363D |
possibly damaging |
Het |
| Cftr |
T |
C |
6: 18,258,235 (GRCm39) |
V532A |
probably damaging |
Het |
| Cldn13 |
T |
C |
5: 134,943,769 (GRCm39) |
T139A |
possibly damaging |
Het |
| Cnksr3 |
T |
C |
10: 7,076,820 (GRCm39) |
Y124C |
probably benign |
Het |
| Cyb5r2 |
T |
C |
7: 107,352,462 (GRCm39) |
K161E |
possibly damaging |
Het |
| Epop |
T |
C |
11: 97,519,333 (GRCm39) |
S259G |
possibly damaging |
Het |
| Fhl2 |
G |
A |
1: 43,162,813 (GRCm39) |
T234I |
possibly damaging |
Het |
| Fnip2 |
T |
C |
3: 79,388,941 (GRCm39) |
T567A |
possibly damaging |
Het |
| Frmd4b |
A |
G |
6: 97,464,601 (GRCm39) |
C39R |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,744 (GRCm39) |
N116S |
possibly damaging |
Het |
| Igkv14-111 |
A |
T |
6: 68,233,725 (GRCm39) |
R75S |
probably benign |
Het |
| Il16 |
A |
T |
7: 83,371,529 (GRCm39) |
D92E |
probably damaging |
Het |
| Il16 |
C |
A |
7: 83,371,536 (GRCm39) |
G90V |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 107,002,277 (GRCm39) |
|
probably null |
Het |
| Kng2 |
A |
G |
16: 22,830,865 (GRCm39) |
I148T |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,945,977 (GRCm39) |
S231P |
possibly damaging |
Het |
| Maneal |
C |
T |
4: 124,750,635 (GRCm39) |
V374I |
possibly damaging |
Het |
| Mgat4c |
T |
A |
10: 102,220,988 (GRCm39) |
L90Q |
probably damaging |
Het |
| Mrps28 |
A |
G |
3: 8,965,040 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
G |
9: 26,963,051 (GRCm39) |
D452G |
probably benign |
Het |
| Nefh |
T |
C |
11: 4,889,551 (GRCm39) |
T1023A |
unknown |
Het |
| Nipa1 |
A |
G |
7: 55,629,354 (GRCm39) |
V253A |
probably benign |
Het |
| Or5ac17 |
C |
T |
16: 59,036,383 (GRCm39) |
V198M |
probably benign |
Het |
| Or5b97 |
G |
T |
19: 12,878,369 (GRCm39) |
F258L |
possibly damaging |
Het |
| Or5m11 |
G |
T |
2: 85,781,862 (GRCm39) |
G152C |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,961 (GRCm39) |
S165G |
probably benign |
Het |
| Or8k41 |
T |
A |
2: 86,313,573 (GRCm39) |
H171L |
probably benign |
Het |
| Pak1 |
A |
G |
7: 97,557,088 (GRCm39) |
D495G |
probably benign |
Het |
| Pcm1 |
G |
A |
8: 41,714,073 (GRCm39) |
R213H |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,052 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
C |
T |
3: 53,385,750 (GRCm39) |
T544M |
possibly damaging |
Het |
| Rftn1 |
T |
C |
17: 50,354,334 (GRCm39) |
M343V |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,715,079 (GRCm39) |
I4656V |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,007 (GRCm39) |
N239Y |
probably damaging |
Het |
| Sec16a |
C |
A |
2: 26,313,512 (GRCm39) |
M1949I |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,171,223 (GRCm39) |
|
probably null |
Het |
| Slc10a2 |
A |
C |
8: 5,148,581 (GRCm39) |
|
probably null |
Het |
| Slc25a16 |
C |
T |
10: 62,773,256 (GRCm39) |
Q164* |
probably null |
Het |
| Specc1l |
T |
C |
10: 75,082,001 (GRCm39) |
Y483H |
probably damaging |
Het |
| Tarbp2 |
A |
G |
15: 102,426,914 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
C |
T |
18: 20,969,925 (GRCm39) |
V1022M |
probably benign |
Het |
| Tsen54 |
T |
C |
11: 115,712,506 (GRCm39) |
V269A |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,641,382 (GRCm39) |
M78K |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,413,429 (GRCm39) |
T215A |
probably damaging |
Het |
| Zc3h7a |
A |
G |
16: 10,971,025 (GRCm39) |
Y335H |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,419,527 (GRCm39) |
Q474L |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACCGTGACTTCCTCGAG -3'
(R):5'- TTTTGAAACGCATCAGCTCAAACC -3'
Sequencing Primer
(F):5'- CGAGTTTCTGACTACCGTCGAAGAG -3'
(R):5'- GGCACGAACTTAATGATTCTGGACTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation