Incidental Mutation 'BB013:Tagap'
ID |
642779 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tagap
|
Ensembl Gene |
ENSMUSG00000033450 |
Gene Name |
T cell activation Rho GTPase activating protein |
Synonyms |
Tcd1, TRD, tcs1, tcs-1, Tcd-1, Tcd1a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.171)
|
Stock # |
BB013
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
8144832-8153729 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 8145770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036370]
[ENSMUST00000036370]
|
AlphaFold |
B2RWW0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036370
|
SMART Domains |
Protein: ENSMUSP00000047431 Gene: ENSMUSG00000033450
Domain | Start | End | E-Value | Type |
RhoGAP
|
98 |
274 |
1.16e-35 |
SMART |
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
low complexity region
|
459 |
478 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000036370
|
SMART Domains |
Protein: ENSMUSP00000047431 Gene: ENSMUSG00000033450
Domain | Start | End | E-Value | Type |
RhoGAP
|
98 |
274 |
1.16e-35 |
SMART |
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
low complexity region
|
459 |
478 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
BC016579 |
C |
A |
16: 45,449,825 (GRCm39) |
D198Y |
probably damaging |
Het |
Cep170 |
A |
G |
1: 176,588,979 (GRCm39) |
S549P |
probably damaging |
Het |
Cnih3 |
T |
C |
1: 181,277,566 (GRCm39) |
L96P |
probably damaging |
Het |
Cnn2 |
T |
A |
10: 79,829,160 (GRCm39) |
L168Q |
probably damaging |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Cnot10 |
A |
G |
9: 114,446,883 (GRCm39) |
C398R |
probably damaging |
Het |
Dcaf4 |
C |
A |
12: 83,580,703 (GRCm39) |
Y212* |
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,335,326 (GRCm39) |
T665A |
probably benign |
Het |
Dnmt1 |
C |
A |
9: 20,818,855 (GRCm39) |
A1609S |
unknown |
Het |
Dzip1 |
T |
C |
14: 119,120,911 (GRCm39) |
D682G |
probably benign |
Het |
Fam76a |
A |
G |
4: 132,629,405 (GRCm39) |
L249P |
probably damaging |
Het |
Fgf10 |
T |
C |
13: 118,925,752 (GRCm39) |
M177T |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Itln1 |
G |
A |
1: 171,359,261 (GRCm39) |
T73I |
probably benign |
Het |
Jkamp |
T |
C |
12: 72,141,590 (GRCm39) |
Y197H |
probably damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lcor |
T |
C |
19: 41,571,008 (GRCm39) |
F67S |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,236,624 (GRCm39) |
P514L |
probably damaging |
Het |
Lmntd2 |
G |
T |
7: 140,790,258 (GRCm39) |
P610Q |
probably damaging |
Het |
Map3k3 |
T |
C |
11: 106,036,548 (GRCm39) |
S225P |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,146,335 (GRCm39) |
Y182H |
probably damaging |
Het |
Mki67 |
A |
G |
7: 135,298,869 (GRCm39) |
V2055A |
possibly damaging |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Myh8 |
C |
T |
11: 67,169,732 (GRCm39) |
P17L |
possibly damaging |
Het |
Myt1l |
T |
A |
12: 29,861,651 (GRCm39) |
D144E |
unknown |
Het |
Nfatc1 |
T |
C |
18: 80,740,881 (GRCm39) |
Y373C |
probably damaging |
Het |
Pacs2 |
C |
T |
12: 113,024,372 (GRCm39) |
L418F |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,996,207 (GRCm39) |
I24T |
unknown |
Het |
Pdcl |
C |
T |
2: 37,242,249 (GRCm39) |
G167E |
probably damaging |
Het |
Pdcl |
A |
C |
2: 37,242,251 (GRCm39) |
S166R |
probably damaging |
Het |
Qsox1 |
C |
T |
1: 155,688,533 (GRCm39) |
G5S |
unknown |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Sass6 |
T |
A |
3: 116,422,419 (GRCm39) |
S641T |
possibly damaging |
Het |
Six1 |
T |
C |
12: 73,090,583 (GRCm39) |
N194S |
probably benign |
Het |
Tiparp |
T |
C |
3: 65,460,946 (GRCm39) |
V645A |
possibly damaging |
Het |
Tm2d2 |
T |
C |
8: 25,510,480 (GRCm39) |
V113A |
probably damaging |
Het |
Tmprss6 |
C |
A |
15: 78,337,050 (GRCm39) |
R352L |
probably benign |
Het |
Tslp |
A |
G |
18: 32,950,246 (GRCm39) |
E105G |
possibly damaging |
Het |
Ttc41 |
A |
G |
10: 86,611,911 (GRCm39) |
E1093G |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,797 (GRCm39) |
R2686H |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,627,036 (GRCm39) |
Y541N |
probably damaging |
Het |
Vmn2r125 |
A |
G |
4: 156,702,988 (GRCm39) |
D122G |
probably damaging |
Het |
|
Other mutations in Tagap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01554:Tagap
|
APN |
17 |
8,151,780 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02589:Tagap
|
APN |
17 |
8,152,504 (GRCm39) |
missense |
possibly damaging |
0.87 |
BB003:Tagap
|
UTSW |
17 |
8,145,770 (GRCm39) |
critical splice donor site |
probably null |
|
R1750:Tagap
|
UTSW |
17 |
8,148,742 (GRCm39) |
missense |
probably benign |
0.06 |
R1791:Tagap
|
UTSW |
17 |
8,152,377 (GRCm39) |
missense |
probably benign |
0.04 |
R1791:Tagap
|
UTSW |
17 |
8,150,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Tagap
|
UTSW |
17 |
8,147,586 (GRCm39) |
missense |
probably benign |
0.00 |
R4093:Tagap
|
UTSW |
17 |
8,148,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Tagap
|
UTSW |
17 |
8,145,773 (GRCm39) |
splice site |
probably null |
|
R4747:Tagap
|
UTSW |
17 |
8,151,030 (GRCm39) |
missense |
probably benign |
|
R5222:Tagap
|
UTSW |
17 |
8,152,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5222:Tagap
|
UTSW |
17 |
8,152,473 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5866:Tagap
|
UTSW |
17 |
8,152,285 (GRCm39) |
missense |
probably damaging |
0.98 |
R6392:Tagap
|
UTSW |
17 |
8,152,893 (GRCm39) |
missense |
probably damaging |
0.99 |
R6638:Tagap
|
UTSW |
17 |
8,145,906 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6649:Tagap
|
UTSW |
17 |
8,152,546 (GRCm39) |
missense |
probably benign |
0.36 |
R6653:Tagap
|
UTSW |
17 |
8,152,546 (GRCm39) |
missense |
probably benign |
0.36 |
R7478:Tagap
|
UTSW |
17 |
8,152,422 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7509:Tagap
|
UTSW |
17 |
8,147,568 (GRCm39) |
missense |
probably damaging |
0.99 |
R7926:Tagap
|
UTSW |
17 |
8,145,770 (GRCm39) |
critical splice donor site |
probably null |
|
R8549:Tagap
|
UTSW |
17 |
8,152,797 (GRCm39) |
missense |
probably benign |
0.36 |
R8747:Tagap
|
UTSW |
17 |
8,147,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R9103:Tagap
|
UTSW |
17 |
8,152,335 (GRCm39) |
missense |
probably benign |
0.01 |
R9106:Tagap
|
UTSW |
17 |
8,150,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGATGCTTCTTAGTGGGAGC -3'
(R):5'- GGAAGATCTCAATAGACGTGTTTAG -3'
Sequencing Primer
(F):5'- AGCCCAGTTTTAGGTGAACAC -3'
(R):5'- CCCAAATGAGTAACAAAAGAATGTC -3'
|
Posted On |
2020-08-01 |