Incidental Mutation 'R9798:Ston1'
ID |
735072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ston1
|
Ensembl Gene |
ENSMUSG00000033855 |
Gene Name |
stonin 1 |
Synonyms |
4921524J06Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R9798 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
88905043-88955293 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88944472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 626
(V626A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064035]
[ENSMUST00000137138]
[ENSMUST00000150023]
[ENSMUST00000163588]
|
AlphaFold |
Q8CDJ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064035
AA Change: V626A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000067027 Gene: ENSMUSG00000033855 AA Change: V626A
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
|
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 damaging
Transcript: ENSMUST00000150023
AA Change: V626A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122928 Gene: ENSMUSG00000033855 AA Change: V626A
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 damaging
Transcript: ENSMUST00000163588
AA Change: V626A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131703 Gene: ENSMUSG00000033855 AA Change: V626A
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: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
T |
13: 61,000,934 (GRCm39) |
S201T |
possibly damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,074,927 (GRCm39) |
D98G |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,990,983 (GRCm39) |
D4089G |
probably damaging |
Het |
Alpk3 |
T |
A |
7: 80,742,400 (GRCm39) |
M739K |
probably benign |
Het |
Asns |
T |
C |
6: 7,689,395 (GRCm39) |
N36D |
possibly damaging |
Het |
Bbs7 |
A |
T |
3: 36,652,439 (GRCm39) |
M338K |
probably benign |
Het |
Bbx |
T |
C |
16: 50,045,121 (GRCm39) |
D480G |
probably damaging |
Het |
Cc2d2b |
G |
A |
19: 40,783,080 (GRCm39) |
V626I |
unknown |
Het |
Celsr3 |
A |
T |
9: 108,705,794 (GRCm39) |
D759V |
probably damaging |
Het |
Entpd1 |
G |
A |
19: 40,715,789 (GRCm39) |
V319M |
possibly damaging |
Het |
Espnl |
G |
T |
1: 91,251,286 (GRCm39) |
G127V |
probably damaging |
Het |
Fgfr1 |
C |
T |
8: 26,053,523 (GRCm39) |
T266I |
unknown |
Het |
Fktn |
C |
T |
4: 53,747,128 (GRCm39) |
H344Y |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,192,402 (GRCm39) |
M2678V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,810,225 (GRCm39) |
Y2181* |
probably null |
Het |
Gm21698 |
A |
T |
5: 26,189,184 (GRCm39) |
D256E |
probably damaging |
Het |
Hipk1 |
C |
T |
3: 103,651,431 (GRCm39) |
V1156I |
possibly damaging |
Het |
Igsf10 |
T |
A |
3: 59,239,126 (GRCm39) |
I352F |
probably damaging |
Het |
Igsf5 |
C |
A |
16: 96,174,075 (GRCm39) |
T35K |
probably damaging |
Het |
Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
Kctd11 |
T |
G |
11: 69,770,732 (GRCm39) |
H102P |
probably damaging |
Het |
Msln |
T |
C |
17: 25,972,771 (GRCm39) |
T37A |
probably benign |
Het |
Or7g29 |
T |
A |
9: 19,286,577 (GRCm39) |
Y200F |
probably benign |
Het |
Or8u10 |
T |
C |
2: 85,915,606 (GRCm39) |
N172D |
probably damaging |
Het |
Phtf1 |
T |
C |
3: 103,904,869 (GRCm39) |
S506P |
probably benign |
Het |
Pias3 |
T |
C |
3: 96,606,881 (GRCm39) |
I57T |
probably damaging |
Het |
Psmc2 |
A |
G |
5: 22,000,806 (GRCm39) |
I94V |
probably benign |
Het |
Ripor1 |
T |
C |
8: 106,342,798 (GRCm39) |
Y224H |
possibly damaging |
Het |
Rrh |
C |
T |
3: 129,605,421 (GRCm39) |
V229M |
probably damaging |
Het |
Scaf4 |
G |
A |
16: 90,045,533 (GRCm39) |
R526C |
unknown |
Het |
Slc1a6 |
G |
A |
10: 78,629,167 (GRCm39) |
|
probably null |
Het |
Slc4a7 |
A |
G |
14: 14,782,056 (GRCm38) |
D937G |
probably damaging |
Het |
Slco1b2 |
C |
A |
6: 141,601,079 (GRCm39) |
T134K |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,056,717 (GRCm39) |
*2562W |
probably null |
Het |
Synpo |
A |
T |
18: 60,736,832 (GRCm39) |
D371E |
possibly damaging |
Het |
Tex15 |
T |
A |
8: 34,062,721 (GRCm39) |
V717D |
probably damaging |
Het |
Tmod3 |
A |
C |
9: 75,436,805 (GRCm39) |
N43K |
probably damaging |
Het |
Tmod3 |
G |
T |
9: 75,436,801 (GRCm39) |
L45I |
possibly damaging |
Het |
Tmod3 |
G |
C |
9: 75,436,803 (GRCm39) |
A44G |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,389,845 (GRCm38) |
F228L |
probably damaging |
Het |
Trappc14 |
A |
G |
5: 138,259,940 (GRCm39) |
M372T |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,644,002 (GRCm39) |
T4455A |
possibly damaging |
Het |
Vmn1r178 |
C |
A |
7: 23,593,733 (GRCm39) |
Y260* |
probably null |
Het |
Vps13c |
T |
A |
9: 67,826,646 (GRCm39) |
I1429N |
probably damaging |
Het |
Wdr31 |
A |
G |
4: 62,381,651 (GRCm39) |
V60A |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCCAGCCCAGTGGATCAAG -3'
(R):5'- GAGACGCTGCACCCATTTG -3'
Sequencing Primer
(F):5'- AGTGGATCAAGGCCCTCTG -3'
(R):5'- GAAAATGAATAAATCAGCTGTTTGGC -3'
|
Posted On |
2022-11-14 |