Incidental Mutation 'R4527:Sorbs3'
| ID |
334492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sorbs3
|
| Ensembl Gene |
ENSMUSG00000022091 |
| Gene Name |
sorbin and SH3 domain containing 3 |
| Synonyms |
SH3P3, vinexin beta, vinexin alpha, Sh3d4 |
| MMRRC Submission |
041768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4527 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70417917-70449438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 70445066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 4
(I4S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022682]
[ENSMUST00000227259]
[ENSMUST00000227653]
[ENSMUST00000227929]
|
| AlphaFold |
Q9R1Z8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022682
AA Change: I4S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091
AA Change: I4S
| 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 |
noncoding transcript
Transcript: ENSMUST00000181856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227653
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227929
AA Change: I4S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228730
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
A |
G |
5: 137,682,798 (GRCm39) |
V15A |
unknown |
Het |
| Asb3 |
A |
G |
11: 31,008,933 (GRCm39) |
D278G |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,815,424 (GRCm39) |
I780T |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,963,065 (GRCm39) |
P200L |
probably damaging |
Het |
| Cars1 |
A |
T |
7: 143,118,786 (GRCm39) |
M668K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Crhr2 |
T |
A |
6: 55,109,838 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,572,091 (GRCm39) |
E855K |
probably benign |
Het |
| Espn |
C |
T |
4: 152,220,106 (GRCm39) |
R339Q |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,293,163 (GRCm39) |
E481V |
probably benign |
Het |
| Gorab |
T |
G |
1: 163,224,705 (GRCm39) |
K32T |
possibly damaging |
Het |
| Mak16 |
G |
A |
8: 31,656,205 (GRCm39) |
Q93* |
probably null |
Het |
| Muc4 |
T |
C |
16: 32,576,217 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,083,249 (GRCm39) |
I5409N |
probably benign |
Het |
| Olfm4 |
C |
T |
14: 80,258,664 (GRCm39) |
S304F |
probably benign |
Het |
| Pask |
A |
G |
1: 93,248,224 (GRCm39) |
F1026L |
probably benign |
Het |
| Rab11a |
A |
G |
9: 64,632,850 (GRCm39) |
S19P |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 26,255,631 (GRCm39) |
D541G |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,398,210 (GRCm39) |
S108G |
probably damaging |
Het |
| Rps4l-ps |
C |
T |
7: 114,526,403 (GRCm39) |
|
noncoding transcript |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,362,627 (GRCm39) |
Y64C |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,925,647 (GRCm39) |
N935S |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,499 (GRCm39) |
V525A |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Ttyh1 |
A |
T |
7: 4,122,763 (GRCm39) |
D4V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,371,257 (GRCm39) |
L53Q |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,351,659 (GRCm39) |
N76K |
probably damaging |
Het |
| Zscan25 |
T |
C |
5: 145,220,268 (GRCm39) |
V21A |
probably damaging |
Het |
|
| Other mutations in Sorbs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Sorbs3
|
APN |
14 |
70,428,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGGTCAGGCAGCTGTAC -3'
(R):5'- TAGAGATGGGACTGGTAGCC -3'
Sequencing Primer
(F):5'- TGATTATCCACCCATTCCAGG -3'
(R):5'- TGGTAGCCAGTCCTCAGCTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation