Incidental Mutation 'R6910:Try5'
| ID |
538975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Try5
|
| Ensembl Gene |
ENSMUSG00000036938 |
| Gene Name |
trypsin 5 |
| Synonyms |
Tc, 1810049H19Rik |
| MMRRC Submission |
045002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
41288166-41291644 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41288733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 54
(D54G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064324]
[ENSMUST00000173916]
|
| AlphaFold |
Q9QUK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064324
AA Change: D162G
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000064498
Gene: ENSMUSG00000036938
AA Change: D162G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
23 |
239 |
1.47e-104 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173916
AA Change: D54G
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133640
Gene: ENSMUSG00000036938
AA Change: D54G
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
131 |
1.21e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap54 |
A |
G |
10: 92,672,374 (GRCm39) |
S2899P |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,977 (GRCm39) |
W82R |
probably damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,965 (GRCm39) |
T781A |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,824 (GRCm39) |
D597G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,744,597 (GRCm39) |
T1598A |
probably benign |
Het |
| Glp2r |
A |
G |
11: 67,621,497 (GRCm39) |
F162S |
probably benign |
Het |
| Gm17655 |
T |
A |
5: 110,195,039 (GRCm39) |
R248* |
probably null |
Het |
| Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,135 (GRCm39) |
Y127H |
probably damaging |
Het |
| Hdac4 |
G |
T |
1: 91,909,875 (GRCm39) |
T463K |
probably damaging |
Het |
| Ift80 |
A |
C |
3: 68,835,068 (GRCm39) |
S458A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,098,459 (GRCm39) |
D1846G |
possibly damaging |
Het |
| Map3k8 |
A |
G |
18: 4,340,801 (GRCm39) |
I171T |
probably benign |
Het |
| Micu1 |
A |
G |
10: 59,576,489 (GRCm39) |
E115G |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,532,080 (GRCm39) |
V9A |
unknown |
Het |
| Ncoa7 |
T |
G |
10: 30,570,117 (GRCm39) |
I281L |
possibly damaging |
Het |
| Nms |
A |
G |
1: 38,980,976 (GRCm39) |
E54G |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,091,305 (GRCm39) |
A84V |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
| Or11g27 |
G |
A |
14: 50,771,330 (GRCm39) |
V154M |
probably benign |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,285 (GRCm39) |
S349T |
probably damaging |
Het |
| R3hcc1 |
G |
A |
14: 69,935,024 (GRCm39) |
P454L |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,788,520 (GRCm39) |
D170G |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,570,447 (GRCm39) |
V151A |
probably damaging |
Het |
| Scp2 |
C |
A |
4: 107,962,283 (GRCm39) |
G81C |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,844,695 (GRCm39) |
T173A |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,998,887 (GRCm39) |
H8142R |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,772,272 (GRCm39) |
T520A |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,256 (GRCm39) |
S170P |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,673,475 (GRCm39) |
F178L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,417,342 (GRCm39) |
E3041G |
unknown |
Het |
| Zfp1001 |
A |
T |
2: 150,165,987 (GRCm39) |
Q56L |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,975,828 (GRCm39) |
H699L |
probably damaging |
Het |
|
| Other mutations in Try5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01837:Try5
|
APN |
6 |
41,290,358 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01885:Try5
|
APN |
6 |
41,288,672 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02652:Try5
|
APN |
6 |
41,288,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1955:Try5
|
UTSW |
6 |
41,288,703 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2014:Try5
|
UTSW |
6 |
41,291,585 (GRCm39) |
splice site |
probably null |
|
|
R2015:Try5
|
UTSW |
6 |
41,291,585 (GRCm39) |
splice site |
probably null |
|
|
R2848:Try5
|
UTSW |
6 |
41,290,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4227:Try5
|
UTSW |
6 |
41,290,401 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4685:Try5
|
UTSW |
6 |
41,288,233 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4816:Try5
|
UTSW |
6 |
41,290,349 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5230:Try5
|
UTSW |
6 |
41,289,312 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5658:Try5
|
UTSW |
6 |
41,289,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Try5
|
UTSW |
6 |
41,291,613 (GRCm39) |
missense |
probably benign |
|
|
R6913:Try5
|
UTSW |
6 |
41,288,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7219:Try5
|
UTSW |
6 |
41,288,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Try5
|
UTSW |
6 |
41,290,388 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7444:Try5
|
UTSW |
6 |
41,288,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7575:Try5
|
UTSW |
6 |
41,288,748 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7585:Try5
|
UTSW |
6 |
41,288,748 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8011:Try5
|
UTSW |
6 |
41,290,421 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8739:Try5
|
UTSW |
6 |
41,288,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8991:Try5
|
UTSW |
6 |
41,289,295 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9397:Try5
|
UTSW |
6 |
41,289,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCATGTTAACCCCAATCC -3'
(R):5'- TTTGCAGACATGTAAACAGAGC -3'
Sequencing Primer
(F):5'- GGCATGTTAACCCCAATCCTAGGAG -3'
(R):5'- CTGTTATCACTTCTAGGAAGGACATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation