Incidental Mutation 'R4635:Shc2'
| ID |
349448 |
| 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 |
041899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4635 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79453885-79473752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79462120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 341
(C341Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020564]
|
| AlphaFold |
Q8BMC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020564
AA Change: C341Y
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020564
Gene: ENSMUSG00000020312
AA Change: C341Y
| 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: C341Y
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129491
Gene: ENSMUSG00000020312
AA Change: C341Y
| 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
|
| Meta Mutation Damage Score |
0.1198 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (39/40) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,764,927 (GRCm39) |
K639I |
probably benign |
Het |
| Amer3 |
C |
A |
1: 34,626,958 (GRCm39) |
T399K |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,510,603 (GRCm39) |
Y786C |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,861 (GRCm39) |
Y315C |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Chchd6 |
T |
C |
6: 89,444,448 (GRCm39) |
E178G |
probably damaging |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
T |
A |
12: 72,005,518 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,490,101 (GRCm39) |
E1690G |
probably benign |
Het |
| Eme2 |
G |
T |
17: 25,113,882 (GRCm39) |
P48T |
probably benign |
Het |
| Ferd3l |
T |
C |
12: 33,978,835 (GRCm39) |
M116T |
probably damaging |
Het |
| Gm13141 |
GGTTTCTTGATGCCA |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2i |
T |
C |
5: 134,274,028 (GRCm39) |
N727D |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,365,072 (GRCm39) |
N185I |
probably damaging |
Het |
| Kifap3 |
C |
T |
1: 163,642,004 (GRCm39) |
T195I |
probably damaging |
Het |
| Mag |
A |
G |
7: 30,606,348 (GRCm39) |
F363S |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,890,175 (GRCm39) |
I135T |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,167,432 (GRCm39) |
F787L |
probably benign |
Het |
| Nr1h2 |
A |
C |
7: 44,201,961 (GRCm39) |
S42A |
probably benign |
Het |
| Odad4 |
C |
T |
11: 100,442,333 (GRCm39) |
Q164* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,043 (GRCm39) |
M217K |
probably benign |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,355 (GRCm39) |
I29V |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,245,208 (GRCm39) |
N5I |
probably damaging |
Het |
| Rab38 |
T |
C |
7: 88,099,854 (GRCm39) |
V123A |
probably damaging |
Het |
| Scd1 |
T |
C |
19: 44,395,024 (GRCm39) |
Y67C |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,358,051 (GRCm39) |
N730S |
possibly damaging |
Het |
| Tfdp2 |
T |
A |
9: 96,179,727 (GRCm39) |
N113K |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,234,290 (GRCm39) |
|
probably benign |
Het |
| Top6bl |
A |
G |
19: 4,748,524 (GRCm39) |
|
probably benign |
Het |
| Tox |
A |
T |
4: 6,990,501 (GRCm39) |
|
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,683 (GRCm39) |
K1319E |
probably benign |
Het |
| Vit |
G |
A |
17: 78,881,641 (GRCm39) |
V135I |
probably benign |
Het |
| Vwa5b1 |
T |
G |
4: 138,338,150 (GRCm39) |
S71R |
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 |
|
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 |
|
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'- TCTGCAGGACACAGCTACATG -3'
(R):5'- GCTCTAACGTACATGCCTTGC -3'
Sequencing Primer
(F):5'- AACCTACCTGCTCCAGAGGG -3'
(R):5'- AACGTACATGCCTTGCTCTGTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation