Incidental Mutation 'R7012:Ston1'
| ID |
545103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ston1
|
| Ensembl Gene |
ENSMUSG00000033855 |
| Gene Name |
stonin 1 |
| Synonyms |
4921524J06Rik |
| MMRRC Submission |
045113-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R7012 (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 88943413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 273
(M273T)
|
| 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: M273T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855
AA Change: M273T
| 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: M273T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855
AA Change: M273T
| 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: M273T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855
AA Change: M273T
| 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 |
|
| Meta Mutation Damage Score |
0.2167 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,431 (GRCm39) |
F686L |
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,017,376 (GRCm39) |
V266I |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,401,750 (GRCm39) |
T249A |
probably damaging |
Het |
| Adss1 |
A |
G |
12: 112,600,670 (GRCm39) |
D213G |
probably benign |
Het |
| Ap1b1 |
T |
G |
11: 4,980,963 (GRCm39) |
V453G |
probably damaging |
Het |
| Apold1 |
G |
A |
6: 134,961,007 (GRCm39) |
G154R |
probably damaging |
Het |
| Birc5 |
A |
G |
11: 117,740,262 (GRCm39) |
E29G |
probably benign |
Het |
| Clcn1 |
G |
A |
6: 42,267,542 (GRCm39) |
R75H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,984,583 (GRCm39) |
I868F |
possibly damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,223 (GRCm39) |
V215E |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,450,511 (GRCm39) |
I140N |
possibly damaging |
Het |
| Cops5 |
A |
G |
1: 10,100,890 (GRCm39) |
*147Q |
probably null |
Het |
| Dbr1 |
T |
A |
9: 99,465,374 (GRCm39) |
Y317* |
probably null |
Het |
| Dock5 |
A |
C |
14: 68,060,035 (GRCm39) |
V468G |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,096 (GRCm39) |
I477V |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Git1 |
T |
C |
11: 77,390,606 (GRCm39) |
L114P |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,529,707 (GRCm39) |
|
probably null |
Het |
| Itih4 |
A |
G |
14: 30,612,706 (GRCm39) |
N244S |
probably benign |
Het |
| Lin28a |
A |
G |
4: 133,746,040 (GRCm39) |
S5P |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,915,060 (GRCm39) |
I372T |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,765 (GRCm39) |
T143A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,406,914 (GRCm39) |
|
probably null |
Het |
| Or13c9 |
A |
G |
4: 52,936,193 (GRCm39) |
L30P |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,823 (GRCm39) |
M283L |
probably benign |
Het |
| Or5t16 |
A |
T |
2: 86,819,051 (GRCm39) |
H156Q |
possibly damaging |
Het |
| Or6e1 |
A |
G |
14: 54,519,674 (GRCm39) |
I226T |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,800,493 (GRCm39) |
G4438D |
unknown |
Het |
| Phlpp2 |
T |
A |
8: 110,603,486 (GRCm39) |
F51I |
possibly damaging |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 150,004,659 (GRCm39) |
V711A |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,905,352 (GRCm39) |
|
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,376,751 (GRCm39) |
S189T |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,868,621 (GRCm39) |
N965S |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 85,992,320 (GRCm39) |
N116S |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,777,313 (GRCm39) |
Y221H |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,032,287 (GRCm39) |
I613V |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,295,871 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,100,820 (GRCm39) |
Y53N |
probably damaging |
Het |
| Tmem132b |
T |
A |
5: 125,775,654 (GRCm39) |
L376Q |
probably damaging |
Het |
| Trim60 |
A |
G |
8: 65,453,043 (GRCm39) |
V402A |
possibly damaging |
Het |
| Tssk5 |
A |
C |
15: 76,257,745 (GRCm39) |
N178K |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,844,982 (GRCm39) |
I450T |
possibly damaging |
Het |
| Tyw1 |
T |
G |
5: 130,306,571 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,255,632 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,756 (GRCm39) |
V670A |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,530 (GRCm39) |
N343D |
probably benign |
Het |
| Zfp472 |
T |
G |
17: 33,196,220 (GRCm39) |
N98K |
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 |
|
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'- GAAAGCCGTTCTCACCAAAGG -3'
(R):5'- AAGTTCTCGAGTTTGGGCTC -3'
Sequencing Primer
(F):5'- GAGGTACCTATTGGCCACAAAAGC -3'
(R):5'- CTCAGAAAGCCTGCAATGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation