Incidental Mutation 'R6597:Shc3'
| ID |
524969 |
| 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 |
044721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6597 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
51585077-51723523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51597009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 338
(D338V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021898]
[ENSMUST00000223543]
|
| AlphaFold |
Q61120 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021898
AA Change: D338V
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021898
Gene: ENSMUSG00000021448
AA Change: D338V
| 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
|
| Meta Mutation Damage Score |
0.5922 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (50/50) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,625,080 (GRCm39) |
Y486C |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,550,321 (GRCm39) |
T118S |
probably damaging |
Het |
| Atl2 |
T |
A |
17: 80,160,195 (GRCm39) |
D293V |
possibly damaging |
Het |
| Bbs1 |
T |
A |
19: 4,949,334 (GRCm39) |
M242L |
probably benign |
Het |
| Btg1 |
T |
A |
10: 96,454,182 (GRCm39) |
S65T |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,902 (GRCm39) |
D1101G |
possibly damaging |
Het |
| Cmpk2 |
G |
T |
12: 26,524,144 (GRCm39) |
V314L |
possibly damaging |
Het |
| Fbxl8 |
A |
C |
8: 105,995,523 (GRCm39) |
D345A |
probably benign |
Het |
| Gys2 |
T |
A |
6: 142,402,035 (GRCm39) |
H268L |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,491,403 (GRCm39) |
R117* |
probably null |
Het |
| Hoxd10 |
G |
A |
2: 74,522,984 (GRCm39) |
A221T |
probably benign |
Het |
| Hspa13 |
A |
T |
16: 75,562,085 (GRCm39) |
L38Q |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,153,927 (GRCm39) |
A87E |
probably damaging |
Het |
| Ipo11 |
A |
G |
13: 107,002,371 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
A |
G |
12: 119,137,133 (GRCm39) |
V390A |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 34,003,117 (GRCm39) |
I1370F |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,276,485 (GRCm39) |
N6086S |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,170,303 (GRCm39) |
T14A |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,008 (GRCm39) |
C116S |
probably benign |
Het |
| Or55b10 |
A |
T |
7: 102,143,628 (GRCm39) |
I118N |
probably damaging |
Het |
| Or5ac22 |
C |
T |
16: 59,135,713 (GRCm39) |
R19H |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,413 (GRCm39) |
F289S |
probably damaging |
Het |
| Or8b47 |
A |
T |
9: 38,435,300 (GRCm39) |
I91F |
probably benign |
Het |
| Or9q1 |
T |
A |
19: 13,805,821 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
T |
A |
2: 122,016,645 (GRCm39) |
|
probably benign |
Het |
| Pcdhga7 |
T |
C |
18: 37,850,059 (GRCm39) |
S689P |
probably benign |
Het |
| Pitpnc1 |
G |
T |
11: 107,117,058 (GRCm39) |
Y227* |
probably null |
Het |
| Pla2g2e |
T |
C |
4: 138,607,984 (GRCm39) |
V22A |
unknown |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,431,957 (GRCm39) |
|
probably null |
Het |
| Rabgef1 |
G |
A |
5: 130,219,885 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
T |
17: 26,059,886 (GRCm39) |
W341R |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,482,381 (GRCm39) |
W286R |
probably benign |
Het |
| Rrs1 |
A |
G |
1: 9,616,601 (GRCm39) |
T285A |
probably damaging |
Het |
| Siglech |
A |
T |
7: 55,418,211 (GRCm39) |
M60L |
probably benign |
Het |
| Slc12a6 |
G |
T |
2: 112,183,280 (GRCm39) |
V756F |
probably damaging |
Het |
| Slc43a2 |
G |
A |
11: 75,462,681 (GRCm39) |
G507D |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,248 (GRCm39) |
S789P |
probably benign |
Het |
| Spata31d1d |
C |
A |
13: 59,873,871 (GRCm39) |
M1221I |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,628,276 (GRCm39) |
N899D |
probably benign |
Het |
| Stag1 |
G |
A |
9: 100,769,473 (GRCm39) |
M529I |
probably benign |
Het |
| Tekt3 |
A |
G |
11: 62,972,085 (GRCm39) |
D247G |
probably benign |
Het |
| Tmppe |
A |
T |
9: 114,234,312 (GRCm39) |
M204L |
probably benign |
Het |
| Tpsg1 |
G |
A |
17: 25,588,271 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,628,315 (GRCm39) |
V6288A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,723,444 (GRCm39) |
|
probably benign |
Het |
| Twsg1 |
C |
A |
17: 66,244,799 (GRCm39) |
V73F |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,450 (GRCm39) |
T672A |
probably damaging |
Het |
| Vps36 |
A |
G |
8: 22,692,320 (GRCm39) |
I66V |
probably benign |
Het |
| Xrcc4 |
A |
T |
13: 90,149,048 (GRCm39) |
D157E |
probably benign |
Het |
| Zbbx |
T |
A |
3: 75,043,761 (GRCm39) |
Q162L |
probably damaging |
Het |
| Zfp560 |
T |
A |
9: 20,259,297 (GRCm39) |
I522L |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,539 (GRCm39) |
N984S |
probably damaging |
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 |
|
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 |
|
|
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'- TGGTGGTACTCTTCCTCACTAGG -3'
(R):5'- TCTGGGAAGTAGACTCACCAG -3'
Sequencing Primer
(F):5'- GAAGTCTCCATCTTCCCGTAGCAG -3'
(R):5'- CCAGAGAGTCATGCCAGCATTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation