Incidental Mutation 'IGL01417:Shc3'
| ID |
80427 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
51585077-51723523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51585200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 472
(R472G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021898]
[ENSMUST00000223543]
|
| AlphaFold |
Q61120 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021898
AA Change: R472G
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000021898
Gene: ENSMUSG00000021448
AA Change: R472G
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
30 |
194 |
5.36e-41 |
SMART |
|
SH2
|
377 |
456 |
6.38e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223543
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa13 |
T |
A |
15: 58,228,043 (GRCm39) |
|
noncoding transcript |
Het |
| Ctdsp2 |
T |
C |
10: 126,829,743 (GRCm39) |
I125T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,623,759 (GRCm39) |
K1044E |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,570,898 (GRCm39) |
Y44C |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,435,345 (GRCm39) |
|
probably null |
Het |
| Flnb |
T |
C |
14: 7,905,513 (GRCm38) |
S1088P |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,520 (GRCm39) |
|
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,953,786 (GRCm39) |
C117* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,734,990 (GRCm39) |
D174G |
probably damaging |
Het |
| Htatip2 |
G |
A |
7: 49,420,573 (GRCm39) |
V140I |
possibly damaging |
Het |
| Mill1 |
G |
T |
7: 17,998,708 (GRCm39) |
R306L |
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,800,081 (GRCm39) |
T249I |
possibly damaging |
Het |
| Nrdc |
T |
C |
4: 108,858,027 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,449,046 (GRCm39) |
H22L |
probably benign |
Het |
| Pcbp1 |
T |
C |
6: 86,502,836 (GRCm39) |
H21R |
probably damaging |
Het |
| Pdcd2l |
A |
C |
7: 33,892,170 (GRCm39) |
L221R |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,566 (GRCm39) |
E135G |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,184,100 (GRCm39) |
E71G |
possibly damaging |
Het |
| Sox8 |
A |
C |
17: 25,786,502 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
G |
T |
3: 134,535,242 (GRCm39) |
W70L |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,535,307 (GRCm39) |
I92F |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,111 (GRCm39) |
N1156S |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,920 (GRCm39) |
I37T |
possibly damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,191 (GRCm39) |
I160F |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,522,377 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R5200:Shc3
|
UTSW |
13 |
51,670,601 (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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation