Incidental Mutation 'R4434:Shc3'
ID |
328763 |
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 |
MMRRC Submission |
041148-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R4434 (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 51603302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 268
(T268A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021898]
[ENSMUST00000223543]
|
AlphaFold |
Q61120 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021898
AA Change: T268A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021898 Gene: ENSMUSG00000021448 AA Change: T268A
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
AA Change: T268A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
T |
8: 111,781,253 (GRCm39) |
Q907L |
probably null |
Het |
Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
AI597479 |
C |
T |
1: 43,139,959 (GRCm39) |
Q62* |
probably null |
Het |
Akap9 |
T |
A |
5: 4,082,708 (GRCm39) |
M1944K |
probably damaging |
Het |
Akr1c19 |
T |
C |
13: 4,292,615 (GRCm39) |
V212A |
probably benign |
Het |
Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
Antxrl |
G |
A |
14: 33,793,574 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,972,146 (GRCm39) |
C26R |
probably benign |
Het |
Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,763,191 (GRCm39) |
T1215I |
possibly damaging |
Het |
Dnah7c |
G |
A |
1: 46,705,442 (GRCm39) |
R2485H |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,998,901 (GRCm39) |
N1049I |
possibly damaging |
Het |
Dnaja3 |
T |
G |
16: 4,507,859 (GRCm39) |
Y120* |
probably null |
Het |
Ehbp1l1 |
G |
T |
19: 5,766,276 (GRCm39) |
R412S |
possibly damaging |
Het |
Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
Gcnt4 |
T |
A |
13: 97,082,850 (GRCm39) |
Y49N |
probably benign |
Het |
Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
Gngt1 |
A |
G |
6: 3,994,282 (GRCm39) |
D20G |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,248,484 (GRCm39) |
N104S |
probably damaging |
Het |
Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,798,835 (GRCm39) |
I2095K |
probably damaging |
Het |
Hephl1 |
C |
T |
9: 14,988,092 (GRCm39) |
R672H |
probably damaging |
Het |
Hpse2 |
A |
G |
19: 43,282,708 (GRCm39) |
S182P |
probably benign |
Het |
Itgb4 |
T |
A |
11: 115,890,640 (GRCm39) |
S1109R |
probably benign |
Het |
Itgbl1 |
A |
T |
14: 124,209,611 (GRCm39) |
D330V |
probably damaging |
Het |
Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
Mycbp2 |
T |
A |
14: 103,371,225 (GRCm39) |
N4108Y |
probably damaging |
Het |
Nampt |
T |
C |
12: 32,888,362 (GRCm39) |
I171T |
probably damaging |
Het |
Nckap5l |
A |
C |
15: 99,320,744 (GRCm39) |
S1270A |
probably benign |
Het |
Opa1 |
A |
G |
16: 29,430,801 (GRCm39) |
I500M |
probably damaging |
Het |
Or10j5 |
C |
T |
1: 172,785,111 (GRCm39) |
H250Y |
probably damaging |
Het |
Pax8 |
G |
A |
2: 24,319,621 (GRCm39) |
P350L |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,047,006 (GRCm39) |
C772R |
probably damaging |
Het |
Prh1 |
A |
T |
6: 132,548,841 (GRCm39) |
H116L |
unknown |
Het |
Rgsl1 |
C |
T |
1: 153,678,087 (GRCm39) |
A114T |
possibly damaging |
Het |
Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Scube1 |
A |
T |
15: 83,606,125 (GRCm39) |
I49N |
probably damaging |
Het |
Shank3 |
C |
A |
15: 89,387,562 (GRCm39) |
L244I |
probably damaging |
Het |
Sp7 |
A |
G |
15: 102,267,536 (GRCm39) |
L90P |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,225,271 (GRCm39) |
S652N |
probably damaging |
Het |
Tacstd2 |
A |
G |
6: 67,512,128 (GRCm39) |
V188A |
possibly damaging |
Het |
Tasor |
G |
A |
14: 27,171,818 (GRCm39) |
|
probably null |
Het |
Tex26 |
T |
C |
5: 149,376,820 (GRCm39) |
S70P |
probably benign |
Het |
Tmc4 |
C |
T |
7: 3,675,006 (GRCm39) |
V222M |
probably benign |
Het |
Tnc |
T |
C |
4: 63,926,066 (GRCm39) |
T905A |
possibly damaging |
Het |
Trim65 |
G |
A |
11: 116,018,435 (GRCm39) |
Q253* |
probably null |
Het |
Tuba3a |
A |
T |
6: 125,258,506 (GRCm39) |
Y161* |
probably null |
Het |
Zfand2b |
A |
G |
1: 75,147,330 (GRCm39) |
S197G |
possibly damaging |
Het |
Zfp109 |
T |
A |
7: 23,928,771 (GRCm39) |
T213S |
probably benign |
Het |
Zfp985 |
A |
C |
4: 147,668,368 (GRCm39) |
D412A |
probably benign |
Het |
Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2015-07-21 |