Incidental Mutation 'R4117:She'
| ID |
315125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
She
|
| Ensembl Gene |
ENSMUSG00000046280 |
| Gene Name |
src homology 2 domain-containing transforming protein E |
| Synonyms |
|
| MMRRC Submission |
040991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89738677-89766141 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89759679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 394
(Y394F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050401]
|
| AlphaFold |
Q8BSD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050401
AA Change: Y394F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059658
Gene: ENSMUSG00000046280
AA Change: Y394F
| 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 |
|
| Meta Mutation Damage Score |
0.3051 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
| Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
| Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
| Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
| Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
| Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
probably damaging |
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 |
|
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 |
|
|
R5491:She
|
UTSW |
3 |
89,739,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGACTACTAGAATGGGCGTTG -3'
(R):5'- AGACCCGCCTTCAAATTTTACTTG -3'
Sequencing Primer
(F):5'- GTATCTGTTCTGAACATGAGTCAG -3'
(R):5'- CCCCAGGGAGGAAAGCC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation