Incidental Mutation 'R6638:Tagap'
| ID |
525619 |
| 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 |
| MMRRC Submission |
044759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R6638 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
8144832-8153729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8145906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 26
(S26P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036370]
|
| AlphaFold |
B2RWW0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036370
AA Change: S26P
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047431
Gene: ENSMUSG00000033450
AA Change: S26P
| 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 |
noncoding transcript
Transcript: ENSMUST00000160177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226153
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,451,521 (GRCm39) |
N868K |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,746,696 (GRCm39) |
S980P |
probably damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,204 (GRCm39) |
E95G |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,012,263 (GRCm39) |
|
probably null |
Het |
| Dppa2 |
A |
T |
16: 48,134,523 (GRCm39) |
H118L |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,463 (GRCm39) |
S740P |
probably damaging |
Het |
| Eva1b |
T |
C |
4: 126,043,265 (GRCm39) |
S102P |
probably benign |
Het |
| Fndc3a |
G |
A |
14: 72,796,688 (GRCm39) |
R637* |
probably null |
Het |
| Fras1 |
A |
T |
5: 96,905,953 (GRCm39) |
D3119V |
possibly damaging |
Het |
| Hmgcr |
T |
C |
13: 96,795,490 (GRCm39) |
T360A |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,850,610 (GRCm39) |
V1017A |
probably damaging |
Het |
| Lats2 |
A |
G |
14: 57,936,822 (GRCm39) |
S556P |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,840,940 (GRCm39) |
F1366S |
probably benign |
Het |
| Mtmr2 |
C |
A |
9: 13,707,429 (GRCm39) |
A327E |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or9r3 |
T |
C |
10: 129,947,739 (GRCm39) |
T307A |
probably benign |
Het |
| Ovch2 |
A |
T |
7: 107,388,301 (GRCm39) |
H426Q |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,382 (GRCm39) |
V1506E |
probably damaging |
Het |
| Poldip3 |
A |
T |
15: 83,017,401 (GRCm39) |
S225T |
probably damaging |
Het |
| Polr3h |
A |
G |
15: 81,802,505 (GRCm39) |
L108P |
possibly damaging |
Het |
| Prss44 |
G |
A |
9: 110,646,271 (GRCm39) |
V333M |
probably damaging |
Het |
| Ptprk |
C |
T |
10: 28,471,807 (GRCm39) |
R1432C |
probably damaging |
Het |
| Rpl36al |
A |
G |
12: 69,229,708 (GRCm39) |
L68P |
probably damaging |
Het |
| Vapb |
A |
G |
2: 173,613,362 (GRCm39) |
K87R |
probably damaging |
Het |
| Vmn1r35 |
G |
A |
6: 66,655,848 (GRCm39) |
T274I |
possibly damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,700,785 (GRCm39) |
|
probably benign |
Het |
| Xrcc5 |
C |
T |
1: 72,422,521 (GRCm39) |
S651L |
possibly damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,169,936 (GRCm39) |
|
probably null |
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 |
|
|
BB013: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 |
|
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'- AGTCTCCATTCCAATGAAGCTG -3'
(R):5'- ATGCACATACGGCCTTTTATTC -3'
Sequencing Primer
(F):5'- TCCAATGAAGCTGATAAGCAGTCTC -3'
(R):5'- GCACATACGGCCTTTTATTCATCTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation