Incidental Mutation 'R7141:Tspoap1'
ID |
553354 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tspoap1
|
Ensembl Gene |
ENSMUSG00000034156 |
Gene Name |
TSPO associated protein 1 |
Synonyms |
Bzrap1, peripheral |
MMRRC Submission |
045221-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7141 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87665523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 754
(S754G)
|
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: S754G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000048063 Gene: ENSMUSG00000034156 AA Change: S754G
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 |
probably damaging
Transcript: ENSMUST00000100644
AA Change: S694G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098209 Gene: ENSMUSG00000034156 AA Change: S694G
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 |
probably benign
Transcript: ENSMUST00000142329
|
SMART Domains |
Protein: ENSMUSP00000118819 Gene: ENSMUSG00000034156
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
SH3
|
157 |
221 |
5.4e-13 |
SMART |
low complexity region
|
259 |
270 |
N/A |
INTRINSIC |
SH3
|
296 |
359 |
5.48e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144502
|
SMART Domains |
Protein: ENSMUSP00000122665 Gene: ENSMUSG00000034156
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
157 |
N/A |
INTRINSIC |
PDB:2CSQ|A
|
223 |
250 |
8e-8 |
PDB |
Blast:SH3
|
231 |
251 |
5e-6 |
BLAST |
|
Meta Mutation Damage Score |
0.0681 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (56/56) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
C |
1: 74,323,270 (GRCm39) |
|
probably null |
Het |
Abhd10 |
C |
T |
16: 45,563,169 (GRCm39) |
R29Q |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,640,620 (GRCm39) |
Y3369H |
probably benign |
Het |
Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
Apba3 |
A |
G |
10: 81,108,889 (GRCm39) |
I551V |
probably damaging |
Het |
Appbp2 |
A |
T |
11: 85,082,577 (GRCm39) |
Y551* |
probably null |
Het |
Btbd17 |
T |
C |
11: 114,682,641 (GRCm39) |
N357S |
possibly damaging |
Het |
Casp2 |
T |
C |
6: 42,257,329 (GRCm39) |
F426S |
possibly damaging |
Het |
Cdh5 |
A |
G |
8: 104,839,633 (GRCm39) |
N35D |
probably benign |
Het |
Cep350 |
G |
T |
1: 155,790,494 (GRCm39) |
Q1354K |
probably damaging |
Het |
Cep44 |
A |
G |
8: 56,992,886 (GRCm39) |
C243R |
probably damaging |
Het |
Chst4 |
A |
T |
8: 110,757,471 (GRCm39) |
S131T |
probably damaging |
Het |
Cox15 |
T |
C |
19: 43,725,186 (GRCm39) |
N406D |
probably benign |
Het |
Cttnbp2 |
C |
T |
6: 18,380,467 (GRCm39) |
R1467H |
probably benign |
Het |
Dock8 |
A |
G |
19: 25,158,984 (GRCm39) |
D1714G |
probably null |
Het |
Erbb2 |
G |
T |
11: 98,318,135 (GRCm39) |
R457L |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,203,493 (GRCm39) |
N463S |
probably benign |
Het |
Fam171a1 |
C |
T |
2: 3,226,189 (GRCm39) |
Q441* |
probably null |
Het |
Fam186b |
T |
A |
15: 99,181,773 (GRCm39) |
M142L |
probably benign |
Het |
Git2 |
G |
T |
5: 114,907,759 (GRCm39) |
C35* |
probably null |
Het |
Gm21103 |
T |
G |
14: 17,482,795 (GRCm39) |
Q202P |
probably damaging |
Het |
Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
Hmcn2 |
C |
A |
2: 31,250,908 (GRCm39) |
T790K |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,279,427 (GRCm39) |
L3114H |
probably damaging |
Het |
Igkv3-10 |
A |
T |
6: 70,549,965 (GRCm39) |
Q37L |
possibly damaging |
Het |
Kcp |
G |
T |
6: 29,487,511 (GRCm39) |
Y1106* |
probably null |
Het |
Khsrp |
T |
C |
17: 57,332,602 (GRCm39) |
D226G |
possibly damaging |
Het |
Klre1 |
T |
A |
6: 129,560,129 (GRCm39) |
W134R |
probably damaging |
Het |
Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
Map4 |
T |
C |
9: 109,807,938 (GRCm39) |
M1T |
probably null |
Het |
Met |
T |
A |
6: 17,527,154 (GRCm39) |
I535K |
probably benign |
Het |
Mmut |
T |
C |
17: 41,263,730 (GRCm39) |
V500A |
possibly damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
Mrpl41 |
A |
G |
2: 24,864,468 (GRCm39) |
L68P |
probably damaging |
Het |
Mtmr4 |
T |
C |
11: 87,491,439 (GRCm39) |
W135R |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,692,965 (GRCm39) |
D1420G |
probably benign |
Het |
Naglu |
A |
C |
11: 100,963,056 (GRCm39) |
D229A |
probably benign |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Ncln |
G |
T |
10: 81,323,683 (GRCm39) |
Y517* |
probably null |
Het |
Nr1h4 |
G |
A |
10: 89,334,091 (GRCm39) |
R100* |
probably null |
Het |
Or5k1 |
G |
A |
16: 58,617,771 (GRCm39) |
T146M |
probably benign |
Het |
P2rx5 |
A |
T |
11: 73,051,474 (GRCm39) |
T18S |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,729,271 (GRCm39) |
S2710P |
unknown |
Het |
Pdhx |
A |
T |
2: 102,903,659 (GRCm39) |
F46I |
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,278,181 (GRCm39) |
L241* |
probably null |
Het |
Pitpnm1 |
G |
A |
19: 4,152,787 (GRCm39) |
V65M |
probably damaging |
Het |
Rgs3 |
A |
G |
4: 62,608,724 (GRCm39) |
D330G |
probably damaging |
Het |
Scaf8 |
T |
C |
17: 3,209,457 (GRCm39) |
V60A |
unknown |
Het |
Sema4c |
A |
G |
1: 36,592,101 (GRCm39) |
Y249H |
probably damaging |
Het |
Spp2 |
T |
C |
1: 88,335,050 (GRCm39) |
Y27H |
probably damaging |
Het |
Sugct |
T |
A |
13: 17,819,372 (GRCm39) |
I158F |
possibly damaging |
Het |
Sympk |
A |
T |
7: 18,788,017 (GRCm39) |
I1178F |
probably benign |
Het |
Tmppe |
T |
C |
9: 114,234,036 (GRCm39) |
Y112H |
probably benign |
Het |
Trp53bp2 |
A |
G |
1: 182,276,073 (GRCm39) |
T187A |
|
Het |
Vmn1r214 |
C |
T |
13: 23,218,839 (GRCm39) |
A111V |
probably benign |
Het |
Vmn2r70 |
G |
C |
7: 85,208,044 (GRCm39) |
S811C |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,844,181 (GRCm39) |
S15P |
unknown |
Het |
Zfp763 |
A |
G |
17: 33,237,769 (GRCm39) |
S459P |
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 |
R3969:Tspoap1
|
UTSW |
11 |
87,653,272 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AGCCATTGAGAAACCGCATG -3'
(R):5'- CGCAGATCTACTCTCTCAGGAG -3'
Sequencing Primer
(F):5'- CTCTGTCAGGGGAGCTCATG -3'
(R):5'- GATCTACTCTCTCAGGAGGCAAC -3'
|
Posted On |
2019-05-15 |