Incidental Mutation 'R2428:Tespa1'
| ID |
250315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tespa1
|
| Ensembl Gene |
ENSMUSG00000034833 |
| Gene Name |
thymocyte expressed, positive selection associated 1 |
| Synonyms |
A430001F24Rik, Itprid3, 5830405N20Rik |
| MMRRC Submission |
040390-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
130158696-130199338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130197944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 322
(D322G)
|
| 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: D322G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047284
Gene: ENSMUSG00000034833
AA Change: D322G
| 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 |
0.0965 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,145,072 (GRCm39) |
A624T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,439,916 (GRCm39) |
A828V |
possibly damaging |
Het |
| Bag6 |
A |
C |
17: 35,366,151 (GRCm39) |
D1117A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,509,533 (GRCm39) |
C3042S |
probably benign |
Het |
| Ctc1 |
G |
A |
11: 68,918,527 (GRCm39) |
V265I |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,480,961 (GRCm39) |
Y298C |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,850,843 (GRCm39) |
R183W |
probably damaging |
Het |
| F2rl2 |
T |
A |
13: 95,833,585 (GRCm39) |
I5N |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,516,420 (GRCm39) |
Y336C |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,922 (GRCm39) |
I10F |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,705 (GRCm39) |
C1340* |
probably null |
Het |
| Igf1 |
A |
G |
10: 87,700,683 (GRCm39) |
T36A |
probably damaging |
Het |
| Lrch1 |
T |
A |
14: 75,044,985 (GRCm39) |
|
probably benign |
Het |
| Mrpl40 |
A |
T |
16: 18,691,125 (GRCm39) |
I195N |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ndufc1 |
A |
C |
3: 51,315,564 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,523,392 (GRCm39) |
N973S |
possibly damaging |
Het |
| Or4f62 |
G |
A |
2: 111,986,787 (GRCm39) |
V164I |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,675 (GRCm39) |
R188* |
probably null |
Het |
| Or6c212 |
T |
C |
10: 129,558,652 (GRCm39) |
I254V |
probably benign |
Het |
| Or9g19 |
A |
T |
2: 85,600,322 (GRCm39) |
Y59F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,701,773 (GRCm39) |
E1388* |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,106,067 (GRCm39) |
D1482E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,673,851 (GRCm39) |
S1080L |
possibly damaging |
Het |
| Sppl2a |
A |
T |
2: 126,754,615 (GRCm39) |
S403R |
possibly damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,569 (GRCm39) |
V373M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,644,517 (GRCm39) |
N13079S |
possibly damaging |
Het |
| Wdr53 |
A |
G |
16: 32,071,008 (GRCm39) |
I118V |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,774 (GRCm39) |
M1051T |
probably benign |
Het |
| Zfp784 |
G |
C |
7: 5,041,357 (GRCm39) |
|
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 |
|
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 |
|
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'- TCACACCATCCAACATGTTCTG -3'
(R):5'- TACTGTGGACCTGGTCTTGC -3'
Sequencing Primer
(F):5'- ATTTCGACCCAACGGATGTG -3'
(R):5'- GACCTGGTCTTGCTAGAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation