Incidental Mutation 'R5200:Shc3'
ID |
400720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shc3
|
Ensembl Gene |
ENSMUSG00000021448 |
Gene Name |
src homology 2 domain-containing transforming protein C3 |
Synonyms |
ShcC, Rai, N-Shc |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R5200 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
51585077-51723523 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51670601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 49
(M49V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021898]
[ENSMUST00000223543]
|
AlphaFold |
Q61120 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021898
AA Change: M49V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021898 Gene: ENSMUSG00000021448 AA Change: M49V
Domain | Start | End | E-Value | Type |
PTB
|
30 |
194 |
5.36e-41 |
SMART |
SH2
|
377 |
456 |
6.38e-26 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223543
AA Change: M49V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
Cfap45 |
C |
T |
1: 172,372,696 (GRCm39) |
Q464* |
probably null |
Het |
Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dnaaf4 |
T |
C |
9: 72,879,713 (GRCm39) |
S418P |
probably damaging |
Het |
H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
Nrde2 |
T |
A |
12: 100,096,756 (GRCm39) |
I1015F |
possibly damaging |
Het |
Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
Pax4 |
G |
A |
6: 28,445,138 (GRCm39) |
P179L |
probably damaging |
Het |
Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
Pten |
C |
T |
19: 32,777,291 (GRCm39) |
P95L |
probably damaging |
Het |
Rsrc2 |
G |
A |
5: 123,877,562 (GRCm39) |
R140* |
probably null |
Het |
Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
Tmtc4 |
T |
G |
14: 123,182,969 (GRCm39) |
D243A |
probably benign |
Het |
Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,150,923 (GRCm39) |
S708T |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
Het |
|
Other mutations in Shc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00555:Shc3
|
APN |
13 |
51,615,379 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00914:Shc3
|
APN |
13 |
51,634,263 (GRCm39) |
splice site |
probably benign |
|
IGL01417:Shc3
|
APN |
13 |
51,585,200 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01536:Shc3
|
APN |
13 |
51,670,595 (GRCm39) |
missense |
probably damaging |
1.00 |
Massless
|
UTSW |
13 |
51,597,009 (GRCm39) |
missense |
possibly damaging |
0.92 |
Singularity
|
UTSW |
13 |
51,596,856 (GRCm39) |
splice site |
probably null |
|
R0499:Shc3
|
UTSW |
13 |
51,634,264 (GRCm39) |
splice site |
probably benign |
|
R0941:Shc3
|
UTSW |
13 |
51,634,242 (GRCm39) |
missense |
probably benign |
|
R1652:Shc3
|
UTSW |
13 |
51,626,875 (GRCm39) |
missense |
probably damaging |
0.99 |
R1739:Shc3
|
UTSW |
13 |
51,636,952 (GRCm39) |
missense |
probably damaging |
0.97 |
R1750:Shc3
|
UTSW |
13 |
51,603,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Shc3
|
UTSW |
13 |
51,626,888 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1848:Shc3
|
UTSW |
13 |
51,615,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Shc3
|
UTSW |
13 |
51,596,872 (GRCm39) |
missense |
probably benign |
0.01 |
R2103:Shc3
|
UTSW |
13 |
51,596,872 (GRCm39) |
missense |
probably benign |
0.01 |
R4426:Shc3
|
UTSW |
13 |
51,634,130 (GRCm39) |
splice site |
probably null |
|
R4434:Shc3
|
UTSW |
13 |
51,603,302 (GRCm39) |
missense |
probably benign |
0.00 |
R4823:Shc3
|
UTSW |
13 |
51,605,606 (GRCm39) |
missense |
probably benign |
|
R4933:Shc3
|
UTSW |
13 |
51,596,805 (GRCm39) |
missense |
probably benign |
0.03 |
R4998:Shc3
|
UTSW |
13 |
51,596,856 (GRCm39) |
splice site |
probably null |
|
R5153:Shc3
|
UTSW |
13 |
51,615,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R5659:Shc3
|
UTSW |
13 |
51,670,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Shc3
|
UTSW |
13 |
51,615,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Shc3
|
UTSW |
13 |
51,615,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R6346:Shc3
|
UTSW |
13 |
51,605,651 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6434:Shc3
|
UTSW |
13 |
51,603,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Shc3
|
UTSW |
13 |
51,636,915 (GRCm39) |
splice site |
probably null |
|
R6580:Shc3
|
UTSW |
13 |
51,596,809 (GRCm39) |
missense |
probably benign |
|
R6597:Shc3
|
UTSW |
13 |
51,597,009 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6906:Shc3
|
UTSW |
13 |
51,620,595 (GRCm39) |
missense |
probably damaging |
0.97 |
R7003:Shc3
|
UTSW |
13 |
51,620,588 (GRCm39) |
missense |
probably benign |
0.14 |
R7104:Shc3
|
UTSW |
13 |
51,585,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7420:Shc3
|
UTSW |
13 |
51,585,271 (GRCm39) |
missense |
probably benign |
0.02 |
R7476:Shc3
|
UTSW |
13 |
51,602,042 (GRCm39) |
missense |
probably benign |
|
R8312:Shc3
|
UTSW |
13 |
51,596,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R8774:Shc3
|
UTSW |
13 |
51,615,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R8774-TAIL:Shc3
|
UTSW |
13 |
51,615,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R8850:Shc3
|
UTSW |
13 |
51,634,248 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Shc3
|
UTSW |
13 |
51,596,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCTGACTCCATCACCAG -3'
(R):5'- GGATGTTTCCTATAGAGGCAGG -3'
Sequencing Primer
(F):5'- ACCAGCCTCCGGTATTGGAAG -3'
(R):5'- ACTATCCCTAAGATGTGGGTCTCAG -3'
|
Posted On |
2016-07-06 |