Incidental Mutation 'IGL02734:Shd'
ID |
305583 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Shd
|
Ensembl Gene |
ENSMUSG00000039154 |
Gene Name |
src homology 2 domain-containing transforming protein D |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL02734
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56277467-56283625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56278632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 65
(Y65C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044216]
[ENSMUST00000086869]
[ENSMUST00000223629]
[ENSMUST00000225145]
|
AlphaFold |
O88834 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044216
AA Change: Y65C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047656 Gene: ENSMUSG00000039154 AA Change: Y65C
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
23 |
N/A |
INTRINSIC |
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
SH2
|
224 |
308 |
6.04e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086869
|
SMART Domains |
Protein: ENSMUSP00000084082 Gene: ENSMUSG00000003208
Domain | Start | End | E-Value | Type |
Pfam:DUF572
|
1 |
311 |
9.3e-115 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223629
AA Change: Y65C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223841
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224021
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225145
AA Change: Y65C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,506,349 (GRCm39) |
D114V |
probably damaging |
Het |
Adam26a |
A |
G |
8: 44,022,812 (GRCm39) |
V226A |
probably benign |
Het |
Anapc4 |
T |
A |
5: 53,018,633 (GRCm39) |
V525E |
probably benign |
Het |
Apip |
C |
T |
2: 102,919,889 (GRCm39) |
|
probably benign |
Het |
Bak1 |
A |
G |
17: 27,239,927 (GRCm39) |
V203A |
possibly damaging |
Het |
Bche |
T |
A |
3: 73,609,409 (GRCm39) |
T6S |
probably benign |
Het |
Ceacam5 |
T |
A |
7: 17,484,737 (GRCm39) |
V493D |
probably damaging |
Het |
Cstf3 |
T |
A |
2: 104,439,539 (GRCm39) |
|
probably benign |
Het |
Fam227a |
A |
T |
15: 79,502,042 (GRCm39) |
|
probably benign |
Het |
Fbln1 |
G |
T |
15: 85,111,182 (GRCm39) |
C112F |
probably damaging |
Het |
Gm12695 |
G |
A |
4: 96,612,267 (GRCm39) |
R499* |
probably null |
Het |
Igdcc4 |
T |
G |
9: 65,038,738 (GRCm39) |
S887A |
possibly damaging |
Het |
Itgb4 |
G |
T |
11: 115,896,792 (GRCm39) |
R1470L |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,990,280 (GRCm39) |
E480G |
probably damaging |
Het |
Mgam |
T |
A |
6: 40,639,628 (GRCm39) |
F497L |
probably damaging |
Het |
Or4a74 |
T |
C |
2: 89,440,303 (GRCm39) |
I48V |
probably benign |
Het |
Or5ar1 |
T |
G |
2: 85,671,883 (GRCm39) |
D84A |
possibly damaging |
Het |
Or5t5 |
T |
C |
2: 86,616,712 (GRCm39) |
Y213H |
probably benign |
Het |
Prl7a2 |
A |
T |
13: 27,843,190 (GRCm39) |
D204E |
probably benign |
Het |
Slc25a39 |
A |
G |
11: 102,295,349 (GRCm39) |
V207A |
probably benign |
Het |
Sptlc2 |
T |
C |
12: 87,402,444 (GRCm39) |
T161A |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tacc2 |
G |
T |
7: 130,227,829 (GRCm39) |
V1505L |
probably damaging |
Het |
Taf6 |
T |
C |
5: 138,182,118 (GRCm39) |
K76E |
possibly damaging |
Het |
Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,157,849 (GRCm39) |
I353T |
unknown |
Het |
|
Other mutations in Shd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01325:Shd
|
APN |
17 |
56,279,839 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02597:Shd
|
APN |
17 |
56,280,987 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02674:Shd
|
APN |
17 |
56,278,554 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1700:Shd
|
UTSW |
17 |
56,281,307 (GRCm39) |
missense |
probably damaging |
0.98 |
R1844:Shd
|
UTSW |
17 |
56,278,554 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4066:Shd
|
UTSW |
17 |
56,278,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R5407:Shd
|
UTSW |
17 |
56,280,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R5432:Shd
|
UTSW |
17 |
56,283,214 (GRCm39) |
missense |
probably damaging |
0.98 |
R5534:Shd
|
UTSW |
17 |
56,278,577 (GRCm39) |
nonsense |
probably null |
|
R8052:Shd
|
UTSW |
17 |
56,283,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R8253:Shd
|
UTSW |
17 |
56,283,295 (GRCm39) |
missense |
|
|
R8536:Shd
|
UTSW |
17 |
56,283,315 (GRCm39) |
missense |
probably damaging |
0.96 |
R8560:Shd
|
UTSW |
17 |
56,278,616 (GRCm39) |
missense |
probably benign |
|
R9643:Shd
|
UTSW |
17 |
56,283,268 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Shd
|
UTSW |
17 |
56,279,833 (GRCm39) |
missense |
probably benign |
0.14 |
|
Posted On |
2015-04-16 |