Incidental Mutation 'IGL01965:Shc2'
| ID |
182511 |
| 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 # |
IGL01965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79453885-79473752 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 79463023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020564]
|
| AlphaFold |
Q8BMC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020564
|
| SMART Domains |
Protein: ENSMUSP00000020564
Gene: ENSMUSG00000020312
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000129491
Gene: ENSMUSG00000020312
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
| Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
| Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,777,842 (GRCm39) |
I1121T |
probably benign |
Het |
| Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,165,418 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
| Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
| Itpkb |
C |
A |
1: 180,159,970 (GRCm39) |
T32K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,187 (GRCm39) |
Y681H |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,594,371 (GRCm39) |
|
probably benign |
Het |
| Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,050,173 (GRCm39) |
W319R |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,855,317 (GRCm39) |
K514I |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
T |
16: 93,922,037 (GRCm39) |
Y294F |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
possibly damaging |
Het |
|
| Other mutations in Shc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Shc2
|
APN |
10 |
79,456,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01586:Shc2
|
APN |
10 |
79,458,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation