Incidental Mutation 'IGL01069:Sorbs3'
| ID |
52649 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sorbs3
|
| Ensembl Gene |
ENSMUSG00000022091 |
| Gene Name |
sorbin and SH3 domain containing 3 |
| Synonyms |
SH3P3, vinexin beta, vinexin alpha, Sh3d4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70417917-70449438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70428604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 390
(E390G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022682]
[ENSMUST00000227259]
[ENSMUST00000227653]
[ENSMUST00000227929]
|
| AlphaFold |
Q9R1Z8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022682
AA Change: E443G
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091
AA Change: E443G
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
165 |
214 |
6.87e-30 |
SMART |
|
SH3
|
447 |
502 |
9.24e-21 |
SMART |
|
SH3
|
521 |
578 |
4.18e-19 |
SMART |
|
low complexity region
|
597 |
613 |
N/A |
INTRINSIC |
|
SH3
|
677 |
733 |
8.31e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227259
AA Change: E390G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227653
AA Change: E390G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227929
AA Change: E443G
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutants are generally normal, viable, and fertile, except showing delayed wound healing in response to full-thickness skin injury in vivo. [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 |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 1700123K08Rik |
C |
T |
5: 138,560,751 (GRCm39) |
A215T |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Apc2 |
G |
A |
10: 80,147,820 (GRCm39) |
C929Y |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,807,199 (GRCm39) |
H1156R |
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,164,821 (GRCm39) |
T582A |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,752,085 (GRCm39) |
H832L |
probably benign |
Het |
| Ces3b |
T |
C |
8: 105,818,206 (GRCm39) |
S92P |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,252,172 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpb2 |
T |
A |
14: 75,508,215 (GRCm39) |
D225E |
probably damaging |
Het |
| Cpne8 |
C |
T |
15: 90,499,313 (GRCm39) |
|
probably null |
Het |
| Cux2 |
G |
A |
5: 122,005,414 (GRCm39) |
T924M |
possibly damaging |
Het |
| Dtl |
T |
A |
1: 191,293,651 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,176,767 (GRCm39) |
I1912N |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,613,766 (GRCm39) |
F369I |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,711,531 (GRCm39) |
E298G |
probably benign |
Het |
| Focad |
C |
A |
4: 88,244,383 (GRCm39) |
H788N |
unknown |
Het |
| Frem1 |
C |
T |
4: 82,932,104 (GRCm39) |
R199H |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,783,907 (GRCm39) |
|
probably null |
Het |
| Hipk1 |
G |
A |
3: 103,685,015 (GRCm39) |
T200I |
possibly damaging |
Het |
| Ighv14-2 |
C |
T |
12: 113,958,379 (GRCm39) |
V21I |
possibly damaging |
Het |
| Kank4 |
A |
T |
4: 98,666,632 (GRCm39) |
I605N |
probably damaging |
Het |
| Krt88 |
T |
G |
15: 101,351,508 (GRCm39) |
*172G |
probably null |
Het |
| Lmf2 |
C |
A |
15: 89,237,091 (GRCm39) |
A408S |
probably benign |
Het |
| Lsm12 |
T |
C |
11: 102,054,896 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,075,735 (GRCm39) |
I580V |
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,467,749 (GRCm39) |
M1061T |
probably damaging |
Het |
| Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
| Or1ad1 |
A |
T |
11: 50,875,830 (GRCm39) |
I101F |
possibly damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,891 (GRCm39) |
Y257C |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,902 (GRCm39) |
M268L |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,918 (GRCm39) |
R362G |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,157,078 (GRCm39) |
T747K |
probably damaging |
Het |
| Rgma |
G |
A |
7: 73,067,239 (GRCm39) |
A165T |
probably damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,577 (GRCm39) |
D437G |
possibly damaging |
Het |
| Rpl5 |
T |
C |
5: 108,055,145 (GRCm39) |
|
probably null |
Het |
| Rtkn2 |
A |
G |
10: 67,877,494 (GRCm39) |
D518G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,696,426 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,854,375 (GRCm39) |
V616I |
possibly damaging |
Het |
| Ska2 |
A |
G |
11: 87,000,091 (GRCm39) |
|
probably benign |
Het |
| Slc13a4 |
C |
A |
6: 35,245,817 (GRCm39) |
L609F |
probably damaging |
Het |
| Syt15 |
T |
C |
14: 33,946,881 (GRCm39) |
V220A |
possibly damaging |
Het |
| Tob1 |
T |
C |
11: 94,104,881 (GRCm39) |
F139S |
probably damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
|
| Other mutations in Sorbs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01144:Sorbs3
|
APN |
14 |
70,429,017 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01155:Sorbs3
|
APN |
14 |
70,436,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01465:Sorbs3
|
APN |
14 |
70,432,958 (GRCm39) |
splice site |
probably benign |
|
|
IGL02184:Sorbs3
|
APN |
14 |
70,421,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0544:Sorbs3
|
UTSW |
14 |
70,431,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0882:Sorbs3
|
UTSW |
14 |
70,445,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Sorbs3
|
UTSW |
14 |
70,431,095 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1493:Sorbs3
|
UTSW |
14 |
70,430,076 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1505:Sorbs3
|
UTSW |
14 |
70,428,251 (GRCm39) |
nonsense |
probably null |
|
|
R1671:Sorbs3
|
UTSW |
14 |
70,428,915 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2184:Sorbs3
|
UTSW |
14 |
70,428,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3804:Sorbs3
|
UTSW |
14 |
70,436,800 (GRCm39) |
splice site |
probably benign |
|
|
R4527:Sorbs3
|
UTSW |
14 |
70,445,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Sorbs3
|
UTSW |
14 |
70,421,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4926:Sorbs3
|
UTSW |
14 |
70,424,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5257:Sorbs3
|
UTSW |
14 |
70,422,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5304:Sorbs3
|
UTSW |
14 |
70,422,345 (GRCm39) |
nonsense |
probably null |
|
|
R5328:Sorbs3
|
UTSW |
14 |
70,418,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Sorbs3
|
UTSW |
14 |
70,418,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Sorbs3
|
UTSW |
14 |
70,440,752 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6106:Sorbs3
|
UTSW |
14 |
70,430,053 (GRCm39) |
splice site |
probably null |
|
|
R7207:Sorbs3
|
UTSW |
14 |
70,438,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7562:Sorbs3
|
UTSW |
14 |
70,444,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7831:Sorbs3
|
UTSW |
14 |
70,440,481 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7893:Sorbs3
|
UTSW |
14 |
70,431,365 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8393:Sorbs3
|
UTSW |
14 |
70,422,360 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8508:Sorbs3
|
UTSW |
14 |
70,440,396 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8858:Sorbs3
|
UTSW |
14 |
70,438,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Sorbs3
|
UTSW |
14 |
70,445,004 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9442:Sorbs3
|
UTSW |
14 |
70,424,387 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-06-21 |
Incidental Mutation