Incidental Mutation 'R5491:She'
| ID |
432076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
She
|
| Ensembl Gene |
ENSMUSG00000046280 |
| Gene Name |
src homology 2 domain-containing transforming protein E |
| Synonyms |
|
| MMRRC Submission |
043052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5491 (G1)
|
| Quality Score |
96 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89738677-89766141 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89739097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 96
(D96V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050401]
|
| AlphaFold |
Q8BSD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050401
AA Change: D96V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059658
Gene: ENSMUSG00000046280
AA Change: D96V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
184 |
N/A |
INTRINSIC |
|
SH2
|
391 |
475 |
6.63e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,562,681 (GRCm39) |
D383Y |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxo48 |
C |
T |
11: 16,904,280 (GRCm39) |
T144M |
probably damaging |
Het |
| Fbxo7 |
C |
A |
10: 85,883,890 (GRCm39) |
P497Q |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,657,905 (GRCm39) |
H88L |
possibly damaging |
Het |
| Gpat4 |
A |
G |
8: 23,670,680 (GRCm39) |
I133T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
| Or13j1 |
A |
G |
4: 43,705,990 (GRCm39) |
S193P |
probably damaging |
Het |
| Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
| Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,137,590 (GRCm39) |
N184S |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
| Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
| Zfp60 |
T |
G |
7: 27,447,940 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in She |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02578:She
|
APN |
3 |
89,739,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
esmerelda
|
UTSW |
3 |
89,759,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
Tesoro
|
UTSW |
3 |
89,761,864 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0926:She
|
UTSW |
3 |
89,758,901 (GRCm39) |
splice site |
probably benign |
|
|
R1563:She
|
UTSW |
3 |
89,761,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1564:She
|
UTSW |
3 |
89,756,921 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1776:She
|
UTSW |
3 |
89,739,345 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1952:She
|
UTSW |
3 |
89,756,792 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2881:She
|
UTSW |
3 |
89,739,231 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4117:She
|
UTSW |
3 |
89,759,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:She
|
UTSW |
3 |
89,758,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4960:She
|
UTSW |
3 |
89,741,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5281:She
|
UTSW |
3 |
89,756,888 (GRCm39) |
missense |
probably benign |
|
|
R7422:She
|
UTSW |
3 |
89,761,864 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7576:She
|
UTSW |
3 |
89,738,919 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8414:She
|
UTSW |
3 |
89,739,174 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8780:She
|
UTSW |
3 |
89,739,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:She
|
UTSW |
3 |
89,759,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9099:She
|
UTSW |
3 |
89,739,078 (GRCm39) |
missense |
probably benign |
|
|
Z1176:She
|
UTSW |
3 |
89,759,673 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTTCAAGGAGTTCCCGC -3'
(R):5'- AGAGATGCTGTGTTCTTACCG -3'
Sequencing Primer
(F):5'- AAGGAGTTCCCGCTTACTCTGAAG -3'
(R):5'- TTGGCCTTGTCCAGCTCAGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation