Incidental Mutation 'R3969:Tspoap1'
| ID |
310890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspoap1
|
| Ensembl Gene |
ENSMUSG00000034156 |
| Gene Name |
TSPO associated protein 1 |
| Synonyms |
Bzrap1, peripheral |
| MMRRC Submission |
040937-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87653272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 113
(N113Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039627]
[ENSMUST00000100644]
|
| AlphaFold |
Q7TNF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039627
AA Change: N113Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: N113Y
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
121 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
219 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
309 |
N/A |
INTRINSIC |
|
coiled coil region
|
331 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
638 |
N/A |
INTRINSIC |
|
SH3
|
652 |
715 |
1.85e-11 |
SMART |
|
low complexity region
|
733 |
759 |
N/A |
INTRINSIC |
|
FN3
|
784 |
864 |
3.14e0 |
SMART |
|
FN3
|
878 |
951 |
4.81e-4 |
SMART |
|
FN3
|
975 |
1062 |
7.16e0 |
SMART |
|
low complexity region
|
1254 |
1265 |
N/A |
INTRINSIC |
|
low complexity region
|
1301 |
1313 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1401 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1471 |
N/A |
INTRINSIC |
|
SH3
|
1619 |
1683 |
5.4e-13 |
SMART |
|
low complexity region
|
1721 |
1732 |
N/A |
INTRINSIC |
|
SH3
|
1758 |
1821 |
5.48e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100644
AA Change: N113Y
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: N113Y
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
121 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
249 |
N/A |
INTRINSIC |
|
coiled coil region
|
271 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
578 |
N/A |
INTRINSIC |
|
SH3
|
592 |
655 |
1.85e-11 |
SMART |
|
low complexity region
|
673 |
699 |
N/A |
INTRINSIC |
|
FN3
|
724 |
804 |
3.14e0 |
SMART |
|
FN3
|
818 |
891 |
4.81e-4 |
SMART |
|
FN3
|
915 |
1002 |
7.16e0 |
SMART |
|
low complexity region
|
1194 |
1205 |
N/A |
INTRINSIC |
|
low complexity region
|
1241 |
1253 |
N/A |
INTRINSIC |
|
low complexity region
|
1327 |
1341 |
N/A |
INTRINSIC |
|
low complexity region
|
1395 |
1411 |
N/A |
INTRINSIC |
|
SH3
|
1559 |
1623 |
5.4e-13 |
SMART |
|
low complexity region
|
1661 |
1672 |
N/A |
INTRINSIC |
|
SH3
|
1698 |
1761 |
5.48e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148422
|
| Meta Mutation Damage Score |
0.1053 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
PHENOTYPE: Homozygous double-KO with Rimbp2tm1.2Geno does not exacerbate the phenotype of the latter single KO. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,835,846 (GRCm39) |
K60E |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,590,608 (GRCm39) |
C273F |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,811 (GRCm39) |
I175T |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,269,531 (GRCm39) |
M1K |
probably null |
Het |
| Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,269,766 (GRCm39) |
S396R |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,300,133 (GRCm39) |
Y194C |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,781 (GRCm39) |
Q497H |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Lins1 |
C |
T |
7: 66,357,946 (GRCm39) |
T27I |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,897,576 (GRCm39) |
V439G |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
T |
13: 49,813,492 (GRCm39) |
K162* |
probably null |
Het |
| Or7g21 |
A |
G |
9: 19,032,956 (GRCm39) |
E232G |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pole3 |
G |
T |
4: 62,443,198 (GRCm39) |
N12K |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,263 (GRCm39) |
S71G |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,738 (GRCm39) |
V496A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,821,818 (GRCm39) |
S24P |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,626 (GRCm39) |
H307L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,801 (GRCm39) |
W498R |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,309,358 (GRCm39) |
D808G |
unknown |
Het |
| Ybx2 |
G |
A |
11: 69,831,242 (GRCm39) |
R84Q |
probably damaging |
Het |
| Zfp462 |
C |
T |
4: 55,012,402 (GRCm39) |
S308F |
probably damaging |
Het |
|
| Other mutations in Tspoap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Tspoap1
|
APN |
11 |
87,668,647 (GRCm39) |
splice site |
probably null |
|
|
IGL01718:Tspoap1
|
APN |
11 |
87,671,081 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02427:Tspoap1
|
APN |
11 |
87,653,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02487:Tspoap1
|
APN |
11 |
87,653,342 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02730:Tspoap1
|
APN |
11 |
87,672,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02979:Tspoap1
|
APN |
11 |
87,661,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Tspoap1
|
UTSW |
11 |
87,657,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Tspoap1
|
UTSW |
11 |
87,667,172 (GRCm39) |
splice site |
probably benign |
|
|
R0470:Tspoap1
|
UTSW |
11 |
87,666,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0637:Tspoap1
|
UTSW |
11 |
87,668,066 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Tspoap1
|
UTSW |
11 |
87,653,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0960:Tspoap1
|
UTSW |
11 |
87,661,421 (GRCm39) |
splice site |
probably benign |
|
|
R0989:Tspoap1
|
UTSW |
11 |
87,656,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1396:Tspoap1
|
UTSW |
11 |
87,656,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Tspoap1
|
UTSW |
11 |
87,656,707 (GRCm39) |
splice site |
probably null |
|
|
R2901:Tspoap1
|
UTSW |
11 |
87,668,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2902:Tspoap1
|
UTSW |
11 |
87,668,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4400:Tspoap1
|
UTSW |
11 |
87,666,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Tspoap1
|
UTSW |
11 |
87,670,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4635:Tspoap1
|
UTSW |
11 |
87,668,683 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4731:Tspoap1
|
UTSW |
11 |
87,656,473 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4755:Tspoap1
|
UTSW |
11 |
87,662,489 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4780:Tspoap1
|
UTSW |
11 |
87,669,269 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4960:Tspoap1
|
UTSW |
11 |
87,657,222 (GRCm39) |
nonsense |
probably null |
|
|
R5494:Tspoap1
|
UTSW |
11 |
87,666,031 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5687:Tspoap1
|
UTSW |
11 |
87,667,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6200:Tspoap1
|
UTSW |
11 |
87,652,529 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6563:Tspoap1
|
UTSW |
11 |
87,667,985 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6816:Tspoap1
|
UTSW |
11 |
87,656,491 (GRCm39) |
missense |
probably benign |
|
|
R6897:Tspoap1
|
UTSW |
11 |
87,656,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Tspoap1
|
UTSW |
11 |
87,665,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Tspoap1
|
UTSW |
11 |
87,661,315 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7341:Tspoap1
|
UTSW |
11 |
87,657,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Tspoap1
|
UTSW |
11 |
87,669,347 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7394:Tspoap1
|
UTSW |
11 |
87,656,945 (GRCm39) |
nonsense |
probably null |
|
|
R7483:Tspoap1
|
UTSW |
11 |
87,652,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7617:Tspoap1
|
UTSW |
11 |
87,654,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7793:Tspoap1
|
UTSW |
11 |
87,655,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7814:Tspoap1
|
UTSW |
11 |
87,666,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Tspoap1
|
UTSW |
11 |
87,669,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8768:Tspoap1
|
UTSW |
11 |
87,669,197 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8987:Tspoap1
|
UTSW |
11 |
87,654,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Tspoap1
|
UTSW |
11 |
87,670,284 (GRCm39) |
missense |
|
|
|
R9259:Tspoap1
|
UTSW |
11 |
87,670,350 (GRCm39) |
missense |
|
|
|
R9339:Tspoap1
|
UTSW |
11 |
87,668,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9424:Tspoap1
|
UTSW |
11 |
87,652,082 (GRCm39) |
start gained |
probably benign |
|
|
R9439:Tspoap1
|
UTSW |
11 |
87,665,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9455:Tspoap1
|
UTSW |
11 |
87,661,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tspoap1
|
UTSW |
11 |
87,666,883 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCTTAGGTCCTGGTAGC -3'
(R):5'- CACAGTGAGATCCTTGGCAGTG -3'
Sequencing Primer
(F):5'- TGGTAGCACCCCTCTCTGAAG -3'
(R):5'- ATCCTTGGCAGTGTTAAGCAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation