Incidental Mutation 'IGL00341:Shc2'
| ID |
4696 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shc2
|
| Ensembl Gene |
ENSMUSG00000020312 |
| Gene Name |
SHC (Src homology 2 domain containing) transforming protein 2 |
| Synonyms |
ShcB, Sli |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79453885-79473752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79456903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 571
(R571Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020564]
|
| AlphaFold |
Q8BMC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020564
AA Change: R571Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020564
Gene: ENSMUSG00000020312
AA Change: R571Q
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
1 |
154 |
4.43e-24 |
SMART |
|
low complexity region
|
172 |
178 |
N/A |
INTRINSIC |
|
SH2
|
341 |
420 |
5.81e-29 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163867
AA Change: R571Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129491
Gene: ENSMUSG00000020312
AA Change: R571Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
|
PTB
|
126 |
289 |
7.41e-35 |
SMART |
|
low complexity region
|
307 |
313 |
N/A |
INTRINSIC |
|
SH2
|
476 |
555 |
5.81e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166450
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168116
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display sensory nerve defects related to nociception. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
| Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
| Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
| Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
| Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
| Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
| Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
| Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
| Other mutations in Shc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01586:Shc2
|
APN |
10 |
79,458,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01965:Shc2
|
APN |
10 |
79,463,023 (GRCm39) |
splice site |
probably benign |
|
|
IGL02149:Shc2
|
APN |
10 |
79,458,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Shc2
|
APN |
10 |
79,462,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
shrine
|
UTSW |
10 |
79,465,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0538:Shc2
|
UTSW |
10 |
79,465,974 (GRCm39) |
splice site |
probably benign |
|
|
R0630:Shc2
|
UTSW |
10 |
79,461,975 (GRCm39) |
splice site |
probably null |
|
|
R0894:Shc2
|
UTSW |
10 |
79,465,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1166:Shc2
|
UTSW |
10 |
79,456,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1339:Shc2
|
UTSW |
10 |
79,462,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Shc2
|
UTSW |
10 |
79,467,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Shc2
|
UTSW |
10 |
79,467,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Shc2
|
UTSW |
10 |
79,461,945 (GRCm39) |
missense |
probably benign |
|
|
R1648:Shc2
|
UTSW |
10 |
79,461,945 (GRCm39) |
missense |
probably benign |
|
|
R1959:Shc2
|
UTSW |
10 |
79,462,625 (GRCm39) |
splice site |
probably null |
|
|
R3800:Shc2
|
UTSW |
10 |
79,462,707 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4603:Shc2
|
UTSW |
10 |
79,459,690 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4635:Shc2
|
UTSW |
10 |
79,462,120 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4656:Shc2
|
UTSW |
10 |
79,457,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Shc2
|
UTSW |
10 |
79,458,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4841:Shc2
|
UTSW |
10 |
79,458,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4842:Shc2
|
UTSW |
10 |
79,458,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5057:Shc2
|
UTSW |
10 |
79,459,706 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5394:Shc2
|
UTSW |
10 |
79,465,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Shc2
|
UTSW |
10 |
79,465,752 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6160:Shc2
|
UTSW |
10 |
79,462,853 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6178:Shc2
|
UTSW |
10 |
79,465,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8773:Shc2
|
UTSW |
10 |
79,456,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Shc2
|
UTSW |
10 |
79,473,536 (GRCm39) |
missense |
probably benign |
|
|
R8841:Shc2
|
UTSW |
10 |
79,458,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Shc2
|
UTSW |
10 |
79,462,762 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation