Incidental Mutation 'IGL02298:Shc4'
| ID |
290225 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shc4
|
| Ensembl Gene |
ENSMUSG00000035109 |
| Gene Name |
SHC (Src homology 2 domain containing) family, member 4 |
| Synonyms |
6230417E10Rik, 9930029B02Rik, LOC271849 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL02298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125469367-125566068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125491074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 488
(H488R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042246]
[ENSMUST00000110477]
[ENSMUST00000110480]
|
| AlphaFold |
Q6S5L9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042246
AA Change: H488R
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043146
Gene: ENSMUSG00000035109
AA Change: H488R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
68 |
N/A |
INTRINSIC |
|
PTB
|
187 |
351 |
1.38e-34 |
SMART |
|
SH2
|
520 |
599 |
4.69e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110477
AA Change: H202R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106103
Gene: ENSMUSG00000035109
AA Change: H202R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID
|
1 |
62 |
1.7e-19 |
PFAM |
|
SH2
|
234 |
313 |
4.69e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110480
AA Change: H202R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106106
Gene: ENSMUSG00000035109
AA Change: H202R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID
|
1 |
62 |
1.7e-19 |
PFAM |
|
SH2
|
234 |
313 |
4.69e-24 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,580,044 (GRCm39) |
S2053P |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,263,633 (GRCm39) |
E125K |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,225,175 (GRCm39) |
D24V |
probably damaging |
Het |
| Clec2m |
T |
A |
6: 129,308,527 (GRCm39) |
M1L |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,607,322 (GRCm39) |
E2638K |
probably damaging |
Het |
| Fbxw5 |
G |
A |
2: 25,394,456 (GRCm39) |
W143* |
probably null |
Het |
| Galk2 |
T |
C |
2: 125,701,290 (GRCm39) |
S5P |
probably benign |
Het |
| Gtf2h2 |
A |
G |
13: 100,617,547 (GRCm39) |
V205A |
probably damaging |
Het |
| Helb |
C |
A |
10: 119,937,431 (GRCm39) |
Q604H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,440,783 (GRCm39) |
|
probably null |
Het |
| Map7d1 |
T |
C |
4: 126,127,714 (GRCm39) |
E675G |
unknown |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Speer1d |
T |
G |
5: 11,307,158 (GRCm39) |
L12R |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,309,364 (GRCm39) |
|
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,812,002 (GRCm39) |
N904K |
probably damaging |
Het |
|
| Other mutations in Shc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03003:Shc4
|
APN |
2 |
125,565,253 (GRCm39) |
nonsense |
probably null |
|
|
R0167:Shc4
|
UTSW |
2 |
125,564,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0784:Shc4
|
UTSW |
2 |
125,499,416 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0959:Shc4
|
UTSW |
2 |
125,520,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1099:Shc4
|
UTSW |
2 |
125,564,764 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1864:Shc4
|
UTSW |
2 |
125,481,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Shc4
|
UTSW |
2 |
125,481,266 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3791:Shc4
|
UTSW |
2 |
125,565,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4324:Shc4
|
UTSW |
2 |
125,520,670 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4424:Shc4
|
UTSW |
2 |
125,494,442 (GRCm39) |
missense |
probably benign |
|
|
R4611:Shc4
|
UTSW |
2 |
125,497,602 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4745:Shc4
|
UTSW |
2 |
125,491,197 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5037:Shc4
|
UTSW |
2 |
125,471,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Shc4
|
UTSW |
2 |
125,481,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5754:Shc4
|
UTSW |
2 |
125,512,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Shc4
|
UTSW |
2 |
125,565,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Shc4
|
UTSW |
2 |
125,491,154 (GRCm39) |
nonsense |
probably null |
|
|
R8314:Shc4
|
UTSW |
2 |
125,497,536 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8396:Shc4
|
UTSW |
2 |
125,471,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Shc4
|
UTSW |
2 |
125,491,064 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9006:Shc4
|
UTSW |
2 |
125,514,394 (GRCm39) |
unclassified |
probably benign |
|
|
R9244:Shc4
|
UTSW |
2 |
125,497,589 (GRCm39) |
nonsense |
probably null |
|
|
R9332:Shc4
|
UTSW |
2 |
125,520,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Shc4
|
UTSW |
2 |
125,564,843 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Posted On |
2015-04-16 |
Incidental Mutation