Incidental Mutation 'R1339:Shc2'
| ID |
156962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shc2
|
| Ensembl Gene |
ENSMUSG00000020312 |
| Gene Name |
SHC (Src homology 2 domain containing) transforming protein 2 |
| Synonyms |
ShcB, Sli |
| MMRRC Submission |
039404-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1339 (G1)
|
| Quality Score |
142 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79453885-79473752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 79462250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 298
(T298P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020564]
|
| AlphaFold |
Q8BMC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020564
AA Change: T298P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020564
Gene: ENSMUSG00000020312
AA Change: T298P
| 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 benign
Transcript: ENSMUST00000163867
AA Change: T298P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129491
Gene: ENSMUSG00000020312
AA Change: T298P
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.9%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,220,777 (GRCm39) |
N1385K |
probably benign |
Het |
| Cplane2 |
A |
G |
4: 140,945,859 (GRCm39) |
E134G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,468,760 (GRCm39) |
Y382C |
probably damaging |
Het |
| Dtnbp1 |
G |
A |
13: 45,076,696 (GRCm39) |
S237L |
probably damaging |
Het |
| Foxi1 |
T |
C |
11: 34,155,866 (GRCm39) |
T255A |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,510,804 (GRCm39) |
T320P |
probably damaging |
Het |
| Inhbc |
C |
A |
10: 127,193,510 (GRCm39) |
V169L |
probably benign |
Het |
| Irf7 |
G |
A |
7: 140,843,617 (GRCm39) |
R320C |
probably damaging |
Het |
| Marchf6 |
T |
C |
15: 31,486,548 (GRCm39) |
T336A |
probably benign |
Het |
| Masp1 |
C |
A |
16: 23,271,217 (GRCm39) |
C677F |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,966,196 (GRCm39) |
R323G |
possibly damaging |
Het |
| Or2a7 |
G |
C |
6: 43,151,544 (GRCm39) |
G208A |
probably benign |
Het |
| Or6k8-ps1 |
G |
T |
1: 173,979,777 (GRCm39) |
G232C |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,155 (GRCm39) |
Y496H |
probably damaging |
Het |
| Rel |
C |
T |
11: 23,695,763 (GRCm39) |
C208Y |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,317,571 (GRCm39) |
L508F |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,199 (GRCm39) |
K74E |
probably 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTGCAAGAGAGGCATGATGAC -3'
(R):5'- CCAATATTCTGGACAGGGCACCAC -3'
Sequencing Primer
(F):5'- AGGCATGATGACCCTGCTATG -3'
(R):5'- CCTCCCATCCCATAGATTATGGTTC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation