Incidental Mutation 'R4124:Tgtp2'
ID |
315320 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgtp2
|
Ensembl Gene |
ENSMUSG00000078921 |
Gene Name |
T cell specific GTPase 2 |
Synonyms |
|
MMRRC Submission |
041632-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48948021-48955033 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48950238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 111
(I111M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046745]
[ENSMUST00000056759]
[ENSMUST00000102785]
[ENSMUST00000179282]
|
AlphaFold |
Q3T9E4 Q62293 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046745
AA Change: I111M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045025 Gene: ENSMUSG00000078921 AA Change: I111M
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
22 |
395 |
2.9e-178 |
PFAM |
Pfam:MMR_HSR1
|
58 |
217 |
5.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056759
|
SMART Domains |
Protein: ENSMUSP00000058544 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102785
|
SMART Domains |
Protein: ENSMUSP00000099846 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128411
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179282
|
SMART Domains |
Protein: ENSMUSP00000136647 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
1 |
276 |
3.6e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
3.8e-26 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,643,345 (GRCm39) |
M338K |
probably damaging |
Het |
4933409G03Rik |
T |
A |
2: 68,446,568 (GRCm39) |
|
probably benign |
Het |
Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
Aldh7a1 |
A |
T |
18: 56,670,395 (GRCm39) |
|
probably benign |
Het |
Ank |
T |
C |
15: 27,571,709 (GRCm39) |
F327S |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
Cd6 |
G |
T |
19: 10,767,972 (GRCm39) |
P630T |
probably damaging |
Het |
Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
D630003M21Rik |
C |
T |
2: 158,038,513 (GRCm39) |
V978M |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,370,689 (GRCm39) |
D864G |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,167,902 (GRCm39) |
R1062G |
probably damaging |
Het |
Fbp2 |
T |
C |
13: 63,002,755 (GRCm39) |
E99G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
Gpx6 |
C |
T |
13: 21,501,815 (GRCm39) |
Q146* |
probably null |
Het |
Grid2 |
A |
T |
6: 63,480,417 (GRCm39) |
Q77L |
probably benign |
Het |
Hrh1 |
T |
C |
6: 114,457,580 (GRCm39) |
V287A |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
Mak |
A |
T |
13: 41,210,106 (GRCm39) |
D43E |
probably benign |
Het |
Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,275,520 (GRCm39) |
S562G |
probably benign |
Het |
Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
Rpgrip1 |
T |
C |
14: 52,389,781 (GRCm39) |
|
probably null |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slamf9 |
T |
C |
1: 172,303,808 (GRCm39) |
I51T |
probably damaging |
Het |
Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Vmn1r215 |
A |
T |
13: 23,260,163 (GRCm39) |
T68S |
probably benign |
Het |
Ypel2 |
A |
G |
11: 86,836,753 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tgtp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02450:Tgtp2
|
APN |
11 |
48,950,317 (GRCm39) |
missense |
probably benign |
0.35 |
Aha2016
|
UTSW |
11 |
48,950,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Tgtp2
|
UTSW |
11 |
48,950,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Tgtp2
|
UTSW |
11 |
48,949,751 (GRCm39) |
missense |
probably benign |
|
R1958:Tgtp2
|
UTSW |
11 |
48,949,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R2402:Tgtp2
|
UTSW |
11 |
48,949,957 (GRCm39) |
missense |
probably benign |
0.00 |
R2962:Tgtp2
|
UTSW |
11 |
48,950,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R4484:Tgtp2
|
UTSW |
11 |
48,950,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R4602:Tgtp2
|
UTSW |
11 |
48,949,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R4772:Tgtp2
|
UTSW |
11 |
48,949,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Tgtp2
|
UTSW |
11 |
48,950,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R5263:Tgtp2
|
UTSW |
11 |
48,950,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R5426:Tgtp2
|
UTSW |
11 |
48,950,083 (GRCm39) |
missense |
probably benign |
|
R7128:Tgtp2
|
UTSW |
11 |
48,950,135 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7147:Tgtp2
|
UTSW |
11 |
48,950,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R7188:Tgtp2
|
UTSW |
11 |
48,950,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Tgtp2
|
UTSW |
11 |
48,949,721 (GRCm39) |
missense |
probably benign |
0.05 |
R9306:Tgtp2
|
UTSW |
11 |
48,949,865 (GRCm39) |
missense |
probably benign |
0.00 |
R9395:Tgtp2
|
UTSW |
11 |
48,950,083 (GRCm39) |
missense |
probably benign |
|
Z1177:Tgtp2
|
UTSW |
11 |
48,950,178 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTCCTCCTTATTGAAACTCTTAGG -3'
(R):5'- AGAGACATCGAGAGTGCTCC -3'
Sequencing Primer
(F):5'- CGCTGTCTATCTTGGTTCTGACAAAG -3'
(R):5'- GCTCCTCTGCACATAGCTG -3'
|
Posted On |
2015-05-14 |