Incidental Mutation 'R4440:Tespa1'
| ID |
329731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tespa1
|
| Ensembl Gene |
ENSMUSG00000034833 |
| Gene Name |
thymocyte expressed, positive selection associated 1 |
| Synonyms |
A430001F24Rik, Itprid3, 5830405N20Rik |
| MMRRC Submission |
041705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4440 (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: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (46/49) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
G |
T |
2: 168,026,721 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,071,152 (GRCm39) |
W782R |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,475,124 (GRCm39) |
W270R |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,786,566 (GRCm39) |
G508C |
probably damaging |
Het |
| Armc8 |
T |
A |
9: 99,366,087 (GRCm39) |
H609L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,305,859 (GRCm39) |
|
probably null |
Het |
| Bicdl2 |
C |
T |
17: 23,886,590 (GRCm39) |
A393V |
probably benign |
Het |
| C6 |
A |
T |
15: 4,764,733 (GRCm39) |
K143M |
possibly damaging |
Het |
| Cfc1 |
T |
A |
1: 34,583,183 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,096,714 (GRCm39) |
I417M |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,345,935 (GRCm39) |
W2307* |
probably null |
Het |
| Dpysl5 |
T |
C |
5: 30,949,612 (GRCm39) |
F461L |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,697,446 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,550 (GRCm39) |
D5761G |
possibly damaging |
Het |
| Hdac4 |
C |
A |
1: 91,873,717 (GRCm39) |
G957C |
probably damaging |
Het |
| Klhl8 |
A |
G |
5: 104,015,433 (GRCm39) |
I421T |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,932,216 (GRCm39) |
C1337R |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,740,565 (GRCm39) |
N370S |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,001,463 (GRCm39) |
R1148L |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,201,785 (GRCm39) |
T1453I |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,225,011 (GRCm39) |
|
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,012,645 (GRCm39) |
V5D |
probably benign |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Ntrk2 |
G |
C |
13: 59,208,126 (GRCm39) |
Q657H |
probably damaging |
Het |
| Or4a75 |
G |
T |
2: 89,448,512 (GRCm39) |
T8K |
probably damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,685 (GRCm39) |
E292K |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,832 (GRCm39) |
D861G |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,099,437 (GRCm39) |
F443I |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,555 (GRCm39) |
I332T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,238,962 (GRCm39) |
V219A |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,355,686 (GRCm39) |
I245T |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,062,866 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,465,693 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,254,752 (GRCm39) |
|
probably null |
Het |
| Tbr1 |
A |
T |
2: 61,635,182 (GRCm39) |
D44V |
possibly damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,718 (GRCm39) |
R66G |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,666,353 (GRCm39) |
E185G |
probably benign |
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 |
|
R4441: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'- TTACCAATGAGCTCCTAGAGTCAC -3'
(R):5'- AAGGGCTTGCCTATGCTCAG -3'
Sequencing Primer
(F):5'- CCGGTTTAAGCAGGTGCAGAC -3'
(R):5'- GCCTATGCTCAGGGTCTTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation