Incidental Mutation 'R5659:Shc3'
ID |
501322 |
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 |
043303-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R5659 (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 51670630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 39
(Y39C)
|
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: Y39C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021898 Gene: ENSMUSG00000021448 AA Change: Y39C
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: Y39C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
T |
C |
18: 36,694,103 (GRCm39) |
S105P |
probably damaging |
Het |
Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
Ap3b2 |
T |
A |
7: 81,126,500 (GRCm39) |
I367F |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,898,015 (GRCm39) |
C247* |
probably null |
Het |
Aqp8 |
G |
A |
7: 123,065,889 (GRCm39) |
W228* |
probably null |
Het |
Arhgap32 |
T |
A |
9: 32,093,256 (GRCm39) |
V178D |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,136,252 (GRCm39) |
W1127R |
probably damaging |
Het |
Bcl6 |
A |
T |
16: 23,787,159 (GRCm39) |
C580* |
probably null |
Het |
Brd1 |
T |
C |
15: 88,597,584 (GRCm39) |
T568A |
probably benign |
Het |
Brsk1 |
C |
T |
7: 4,718,371 (GRCm39) |
P665L |
possibly damaging |
Het |
Cblc |
A |
G |
7: 19,526,857 (GRCm39) |
L125P |
probably damaging |
Het |
Ccdc87 |
T |
C |
19: 4,890,878 (GRCm39) |
S457P |
probably damaging |
Het |
Cxcr5 |
C |
T |
9: 44,424,690 (GRCm39) |
M322I |
probably benign |
Het |
Cyb5r4 |
T |
A |
9: 86,937,881 (GRCm39) |
F300Y |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
Dhx9 |
A |
G |
1: 153,347,481 (GRCm39) |
V409A |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,392,009 (GRCm39) |
D3790G |
probably damaging |
Het |
Gin1 |
A |
G |
1: 97,703,257 (GRCm39) |
T27A |
possibly damaging |
Het |
Gipc1 |
A |
T |
8: 84,390,755 (GRCm39) |
M287L |
probably benign |
Het |
Kat6a |
T |
A |
8: 23,428,176 (GRCm39) |
L1177* |
probably null |
Het |
Klhl20 |
A |
G |
1: 160,918,040 (GRCm39) |
V82A |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,702,805 (GRCm39) |
I995T |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,990 (GRCm39) |
V814E |
probably damaging |
Het |
Luzp1 |
T |
A |
4: 136,269,787 (GRCm39) |
V670D |
probably damaging |
Het |
Lyst |
C |
A |
13: 13,809,212 (GRCm39) |
A294E |
possibly damaging |
Het |
Olr1 |
T |
A |
6: 129,476,992 (GRCm39) |
E91V |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,702,966 (GRCm39) |
I46N |
probably damaging |
Het |
Or2k2 |
A |
T |
4: 58,785,672 (GRCm39) |
F17I |
probably damaging |
Het |
Or8b55 |
C |
T |
9: 38,727,072 (GRCm39) |
T91I |
probably benign |
Het |
Pam |
T |
C |
1: 97,770,024 (GRCm39) |
Y476C |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,225,470 (GRCm39) |
L761P |
probably damaging |
Het |
Phf21b |
C |
T |
15: 84,678,101 (GRCm39) |
W300* |
probably null |
Het |
Pld2 |
T |
C |
11: 70,448,387 (GRCm39) |
*945Q |
probably null |
Het |
Ppp1r37 |
C |
T |
7: 19,269,448 (GRCm39) |
V145M |
probably damaging |
Het |
Rasgrf1 |
T |
A |
9: 89,866,342 (GRCm39) |
N593K |
probably damaging |
Het |
Rhot1 |
T |
G |
11: 80,141,181 (GRCm39) |
|
probably null |
Het |
Rmnd1 |
A |
T |
10: 4,377,382 (GRCm39) |
M99K |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,019,482 (GRCm39) |
T697I |
possibly damaging |
Het |
Scgb1b10 |
G |
T |
7: 31,800,303 (GRCm39) |
A4S |
probably benign |
Het |
Slc25a23 |
A |
G |
17: 57,352,500 (GRCm39) |
|
probably benign |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Sqor |
G |
A |
2: 122,629,523 (GRCm39) |
C127Y |
probably benign |
Het |
Sv2a |
G |
C |
3: 96,097,619 (GRCm39) |
W467S |
possibly damaging |
Het |
Togaram2 |
G |
T |
17: 71,994,667 (GRCm39) |
D39Y |
probably damaging |
Het |
Tspan11 |
T |
A |
6: 127,915,240 (GRCm39) |
|
probably null |
Het |
Usp32 |
A |
G |
11: 84,968,240 (GRCm39) |
V141A |
possibly damaging |
Het |
Zbtb38 |
T |
C |
9: 96,569,473 (GRCm39) |
H537R |
probably damaging |
Het |
Zfat |
T |
C |
15: 67,990,862 (GRCm39) |
Y1008C |
probably damaging |
Het |
Zfp637 |
G |
A |
6: 117,820,291 (GRCm39) |
G3E |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,299,540 (GRCm39) |
Y673* |
probably null |
Het |
Zhx2 |
T |
C |
15: 57,685,704 (GRCm39) |
S358P |
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 |
|
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 |
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'- AGGGGCAGGCTTTCTTCTAG -3'
(R):5'- GGATGTTTCCTATAGAGGCAGG -3'
Sequencing Primer
(F):5'- GGGCAGGCTTTCTTCTAGAAATTCC -3'
(R):5'- ACTATCCCTAAGATGTGGGTCTCAG -3'
|
Posted On |
2017-12-01 |