Incidental Mutation 'R1113:Try4'
| ID |
96932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Try4
|
| Ensembl Gene |
ENSMUSG00000054106 |
| Gene Name |
trypsin 4 |
| Synonyms |
0910001B19Rik, Td |
| MMRRC Submission |
039186-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1113 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
41279206-41282467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 41282308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 209
(Q209H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031913]
|
| AlphaFold |
Q9R0T7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031913
AA Change: Q209H
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031913
Gene: ENSMUSG00000054106
AA Change: Q209H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
23 |
239 |
9.72e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193013
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 93.0%
- 20x: 82.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,982,984 (GRCm39) |
E1423K |
probably benign |
Het |
| Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
| Cln6 |
A |
G |
9: 62,758,143 (GRCm39) |
T301A |
probably damaging |
Het |
| G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
| Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
| Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
| Pate6 |
T |
C |
9: 35,700,385 (GRCm39) |
T67A |
probably benign |
Het |
| Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
| Pros1 |
G |
A |
16: 62,734,228 (GRCm39) |
D345N |
probably damaging |
Het |
| Prss47 |
T |
C |
13: 65,199,630 (GRCm39) |
H83R |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,693,695 (GRCm39) |
S2710L |
possibly damaging |
Het |
|
| Other mutations in Try4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01773:Try4
|
APN |
6 |
41,281,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02216:Try4
|
APN |
6 |
41,281,965 (GRCm39) |
missense |
probably benign |
|
|
R0537:Try4
|
UTSW |
6 |
41,281,296 (GRCm39) |
missense |
probably benign |
|
|
R0731:Try4
|
UTSW |
6 |
41,281,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1833:Try4
|
UTSW |
6 |
41,280,365 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2246:Try4
|
UTSW |
6 |
41,282,406 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4131:Try4
|
UTSW |
6 |
41,282,335 (GRCm39) |
nonsense |
probably null |
|
|
R4414:Try4
|
UTSW |
6 |
41,281,905 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5457:Try4
|
UTSW |
6 |
41,280,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Try4
|
UTSW |
6 |
41,281,977 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6023:Try4
|
UTSW |
6 |
41,280,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Try4
|
UTSW |
6 |
41,281,337 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7783:Try4
|
UTSW |
6 |
41,279,229 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8051:Try4
|
UTSW |
6 |
41,281,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9320:Try4
|
UTSW |
6 |
41,282,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9730:Try4
|
UTSW |
6 |
41,281,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Try4
|
UTSW |
6 |
41,282,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAACATGTCAGCCAGAACAGAGG -3'
(R):5'- GCCTGAACTGATGCTTTCGTGTACC -3'
Sequencing Primer
(F):5'- CCAGAACAGAGGATGGGCTAAC -3'
(R):5'- CCATGCAACATATTTGGAGATGTAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation