Incidental Mutation 'R1350:Tasp1'
| ID |
159512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasp1
|
| Ensembl Gene |
ENSMUSG00000039033 |
| Gene Name |
taspase, threonine aspartase 1 |
| Synonyms |
4930485D02Rik |
| MMRRC Submission |
039415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.892)
|
| Stock # |
R1350 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
139675400-139908725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139899341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 4
(E4G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046656]
[ENSMUST00000099304]
[ENSMUST00000110079]
|
| AlphaFold |
Q8R1G1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046656
AA Change: E4G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039546
Gene: ENSMUSG00000039033
AA Change: E4G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asparaginase_2
|
42 |
346 |
1.1e-50 |
PFAM |
|
low complexity region
|
347 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099304
AA Change: E4G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096907
Gene: ENSMUSG00000039033
AA Change: E4G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asparaginase_2
|
42 |
286 |
1.1e-46 |
PFAM |
|
low complexity region
|
310 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110079
AA Change: E4G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105706
Gene: ENSMUSG00000039033
AA Change: E4G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asparaginase_2
|
42 |
348 |
1.3e-62 |
PFAM |
|
| Meta Mutation Damage Score |
0.0921 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
95% (57/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display prenatal and early postnatal lethality, reduced body size, impaired suckling behavior, homeotic transformations of the axial skeleton, and cell cycle defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
A |
G |
4: 126,400,925 (GRCm39) |
V640A |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,778,853 (GRCm39) |
Q860* |
probably null |
Het |
| Atp10d |
A |
G |
5: 72,418,469 (GRCm39) |
|
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,205,950 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
A |
1: 44,165,863 (GRCm39) |
N104K |
possibly damaging |
Het |
| Capn15 |
A |
G |
17: 26,183,666 (GRCm39) |
S338P |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccn6 |
C |
T |
10: 39,034,302 (GRCm39) |
C100Y |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,729,848 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,682,081 (GRCm39) |
N821D |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,771,081 (GRCm39) |
I1105F |
probably damaging |
Het |
| Dnaja2 |
A |
T |
8: 86,266,717 (GRCm39) |
F337I |
probably damaging |
Het |
| Dntt |
C |
T |
19: 41,025,578 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,791,831 (GRCm39) |
E1381K |
possibly damaging |
Het |
| Fibp |
T |
C |
19: 5,511,419 (GRCm39) |
Y96H |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,942,226 (GRCm39) |
V85A |
probably damaging |
Het |
| Gsdme |
A |
T |
6: 50,223,108 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
A |
T |
6: 136,720,912 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,809,217 (GRCm39) |
V1748A |
probably benign |
Het |
| Hepacam2 |
G |
A |
6: 3,467,530 (GRCm39) |
Q384* |
probably null |
Het |
| Itga10 |
T |
A |
3: 96,564,793 (GRCm39) |
M961K |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,751,967 (GRCm39) |
T191I |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,614,545 (GRCm39) |
P336L |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,352,484 (GRCm39) |
|
probably null |
Het |
| Lipc |
T |
C |
9: 70,705,649 (GRCm39) |
H478R |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,646 (GRCm39) |
C356* |
probably null |
Het |
| Nf1 |
T |
A |
11: 79,303,513 (GRCm39) |
C397S |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,700,396 (GRCm39) |
F439S |
probably damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,701 (GRCm39) |
V275E |
probably benign |
Het |
| Or13a18 |
T |
C |
7: 140,190,622 (GRCm39) |
V181A |
probably damaging |
Het |
| Or3a1b |
T |
C |
11: 74,013,039 (GRCm39) |
L308P |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,690 (GRCm39) |
L28Q |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,937 (GRCm39) |
W2R |
probably benign |
Het |
| Or7g29 |
T |
G |
9: 19,286,710 (GRCm39) |
S156R |
possibly damaging |
Het |
| Or8b37 |
G |
A |
9: 37,959,111 (GRCm39) |
V198I |
probably benign |
Het |
| Pcif1 |
T |
C |
2: 164,728,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,982,585 (GRCm39) |
R107L |
probably damaging |
Het |
| Skint7 |
G |
T |
4: 111,837,521 (GRCm39) |
A100S |
possibly damaging |
Het |
| Ssu2 |
A |
T |
6: 112,351,807 (GRCm39) |
L306* |
probably null |
Het |
| Tfb1m |
A |
T |
17: 3,595,955 (GRCm39) |
D99E |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,198 (GRCm39) |
|
probably null |
Het |
| Uox |
A |
G |
3: 146,330,330 (GRCm39) |
D162G |
probably damaging |
Het |
| Usp18 |
A |
G |
6: 121,239,651 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,886 (GRCm39) |
N177S |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,897,558 (GRCm39) |
M621K |
probably damaging |
Het |
| Wdfy3 |
C |
A |
5: 102,046,418 (GRCm39) |
D1797Y |
probably damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,060,856 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
G |
A |
17: 27,193,380 (GRCm39) |
V262I |
probably benign |
Het |
|
| Other mutations in Tasp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Tasp1
|
APN |
2 |
139,819,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01476:Tasp1
|
APN |
2 |
139,850,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02876:Tasp1
|
APN |
2 |
139,676,283 (GRCm39) |
missense |
probably benign |
0.45 |
|
PIT4449001:Tasp1
|
UTSW |
2 |
139,752,455 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0352:Tasp1
|
UTSW |
2 |
139,793,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0381:Tasp1
|
UTSW |
2 |
139,793,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Tasp1
|
UTSW |
2 |
139,850,684 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1836:Tasp1
|
UTSW |
2 |
139,793,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Tasp1
|
UTSW |
2 |
139,819,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Tasp1
|
UTSW |
2 |
139,890,164 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2259:Tasp1
|
UTSW |
2 |
139,793,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2321:Tasp1
|
UTSW |
2 |
139,899,332 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3700:Tasp1
|
UTSW |
2 |
139,752,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3842:Tasp1
|
UTSW |
2 |
139,793,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Tasp1
|
UTSW |
2 |
139,850,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Tasp1
|
UTSW |
2 |
139,899,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6345:Tasp1
|
UTSW |
2 |
139,793,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6533:Tasp1
|
UTSW |
2 |
139,676,277 (GRCm39) |
makesense |
probably null |
|
|
R7723:Tasp1
|
UTSW |
2 |
139,827,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Tasp1
|
UTSW |
2 |
139,850,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9096:Tasp1
|
UTSW |
2 |
139,725,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9097:Tasp1
|
UTSW |
2 |
139,725,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9153:Tasp1
|
UTSW |
2 |
139,899,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Tasp1
|
UTSW |
2 |
139,819,567 (GRCm39) |
missense |
probably benign |
|
|
R9797:Tasp1
|
UTSW |
2 |
139,838,015 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTGCAAAGCCTTACCTGC -3'
(R):5'- ACAAGCACTGTTGCTGGACAGAG -3'
Sequencing Primer
(F):5'- CATGCACCAGCACAAAGC -3'
(R):5'- CACTGTTGCTGGACAGAGATTTAAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation