Incidental Mutation 'R4441:Tespa1'
| ID |
329777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tespa1
|
| Ensembl Gene |
ENSMUSG00000034833 |
| Gene Name |
thymocyte expressed, positive selection associated 1 |
| Synonyms |
A430001F24Rik, Itprid3, 5830405N20Rik |
| MMRRC Submission |
041706-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
130158696-130199338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130197826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 283
(R283C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042586]
[ENSMUST00000217702]
|
| AlphaFold |
Q3U132 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042586
AA Change: R283C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047284
Gene: ENSMUSG00000034833
AA Change: R283C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
45 |
N/A |
INTRINSIC |
|
KRAP_IP3R_bind
|
128 |
292 |
2.24e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217702
|
| Meta Mutation Damage Score |
0.4346 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired late thymocyte development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,127,024 (GRCm39) |
R1238S |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,816,383 (GRCm39) |
Y244N |
possibly damaging |
Het |
| Asxl3 |
C |
T |
18: 22,657,290 (GRCm39) |
P1767S |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,766,612 (GRCm39) |
K70N |
possibly damaging |
Het |
| Cibar1 |
A |
G |
4: 12,157,733 (GRCm39) |
M261T |
probably damaging |
Het |
| Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,301,807 (GRCm39) |
T127A |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,235,322 (GRCm39) |
|
probably null |
Het |
| Gm12790 |
A |
C |
4: 101,825,337 (GRCm39) |
S26A |
probably damaging |
Het |
| Gm136 |
T |
C |
4: 34,755,911 (GRCm39) |
D34G |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,461 (GRCm39) |
|
probably null |
Het |
| Hdac9 |
G |
T |
12: 34,439,375 (GRCm39) |
H401N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,533,210 (GRCm39) |
I3026V |
probably null |
Het |
| Igkv6-20 |
A |
T |
6: 70,313,101 (GRCm39) |
M24K |
probably damaging |
Het |
| Ilf2 |
T |
C |
3: 90,394,769 (GRCm39) |
L339P |
probably benign |
Het |
| Insr |
T |
A |
8: 3,244,902 (GRCm39) |
K501N |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mcm5 |
T |
C |
8: 75,839,172 (GRCm39) |
S142P |
probably benign |
Het |
| Mcpt9 |
A |
G |
14: 56,265,009 (GRCm39) |
V164A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Nfia |
T |
C |
4: 97,661,150 (GRCm39) |
|
probably null |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Or51g1 |
A |
T |
7: 102,633,516 (GRCm39) |
V285E |
possibly damaging |
Het |
| Or51q1c |
T |
G |
7: 103,653,279 (GRCm39) |
F266V |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,924 (GRCm39) |
S272P |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,896,114 (GRCm39) |
I395V |
possibly damaging |
Het |
| Plcz1 |
T |
A |
6: 139,936,413 (GRCm39) |
L605F |
probably benign |
Het |
| Prph |
G |
A |
15: 98,955,005 (GRCm39) |
S325N |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,221,793 (GRCm39) |
M131T |
probably benign |
Het |
| Rab3ip |
T |
G |
10: 116,751,837 (GRCm39) |
D278A |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Rbm5 |
A |
G |
9: 107,626,887 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,304,526 (GRCm39) |
|
probably null |
Het |
| Saxo5 |
C |
T |
8: 3,526,105 (GRCm39) |
S86L |
probably damaging |
Het |
| Tbxa2r |
T |
C |
10: 81,168,925 (GRCm39) |
S205P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,618,246 (GRCm39) |
I266V |
possibly damaging |
Het |
| Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,851,666 (GRCm39) |
D12G |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,888,281 (GRCm39) |
Y585N |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,379,786 (GRCm39) |
N223K |
possibly damaging |
Het |
|
| Other mutations in Tespa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02111:Tespa1
|
APN |
10 |
130,191,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Tespa1
|
UTSW |
10 |
130,196,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Tespa1
|
UTSW |
10 |
130,196,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1381:Tespa1
|
UTSW |
10 |
130,196,560 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1781:Tespa1
|
UTSW |
10 |
130,184,119 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1912:Tespa1
|
UTSW |
10 |
130,190,592 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1927:Tespa1
|
UTSW |
10 |
130,184,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2428:Tespa1
|
UTSW |
10 |
130,197,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3907:Tespa1
|
UTSW |
10 |
130,192,666 (GRCm39) |
splice site |
probably benign |
|
|
R4439:Tespa1
|
UTSW |
10 |
130,197,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4440:Tespa1
|
UTSW |
10 |
130,197,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4836:Tespa1
|
UTSW |
10 |
130,198,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5045:Tespa1
|
UTSW |
10 |
130,197,904 (GRCm39) |
nonsense |
probably null |
|
|
R5566:Tespa1
|
UTSW |
10 |
130,191,356 (GRCm39) |
nonsense |
probably null |
|
|
R5670:Tespa1
|
UTSW |
10 |
130,190,624 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5691:Tespa1
|
UTSW |
10 |
130,190,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6173:Tespa1
|
UTSW |
10 |
130,183,172 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7325:Tespa1
|
UTSW |
10 |
130,197,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Tespa1
|
UTSW |
10 |
130,196,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7577:Tespa1
|
UTSW |
10 |
130,190,624 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7783:Tespa1
|
UTSW |
10 |
130,192,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Tespa1
|
UTSW |
10 |
130,183,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Tespa1
|
UTSW |
10 |
130,184,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8768:Tespa1
|
UTSW |
10 |
130,198,027 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8885:Tespa1
|
UTSW |
10 |
130,198,316 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9393:Tespa1
|
UTSW |
10 |
130,183,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Tespa1
|
UTSW |
10 |
130,198,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Tespa1
|
UTSW |
10 |
130,197,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Tespa1
|
UTSW |
10 |
130,198,299 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTCCTAGAGTCACCATCC -3'
(R):5'- AACAGACTCTTCCCCAAGGG -3'
Sequencing Primer
(F):5'- CCGGTTTAAGCAGGTGCAGAC -3'
(R):5'- AAGGGCTTGCCTATGCTCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation