Incidental Mutation 'IGL00502:Tspoap1'
ID |
4520 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tspoap1
|
Ensembl Gene |
ENSMUSG00000034156 |
Gene Name |
TSPO associated protein 1 |
Synonyms |
Bzrap1, peripheral |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00502
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
Type of Mutation |
splice site (586 bp from exon) |
DNA Base Change (assembly) |
A to G
at 87668647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039627]
[ENSMUST00000100644]
|
AlphaFold |
Q7TNF8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039627
AA Change: I1307V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000048063 Gene: ENSMUSG00000034156 AA Change: I1307V
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: I1247V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000098209 Gene: ENSMUSG00000034156 AA Change: I1247V
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: ENSMUST00000133645
|
SMART Domains |
Protein: ENSMUSP00000117356 Gene: ENSMUSG00000034156
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
SH3
|
88 |
151 |
5.48e-14 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135957
|
Predicted Effect |
probably null
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 null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153578
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154758
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148814
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
A |
T |
15: 94,301,278 (GRCm39) |
I82N |
probably damaging |
Het |
Ampd2 |
A |
T |
3: 107,984,712 (GRCm39) |
L422H |
probably damaging |
Het |
Angptl2 |
T |
A |
2: 33,118,406 (GRCm39) |
V60E |
probably damaging |
Het |
Ano3 |
G |
A |
2: 110,601,395 (GRCm39) |
|
probably benign |
Het |
Arhgap40 |
A |
G |
2: 158,373,078 (GRCm39) |
D112G |
probably benign |
Het |
Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
Btrc |
A |
T |
19: 45,515,704 (GRCm39) |
E553V |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,541,212 (GRCm39) |
Y1323* |
probably null |
Het |
Ccdc146 |
A |
G |
5: 21,506,420 (GRCm39) |
C674R |
possibly damaging |
Het |
Ccdc170 |
A |
G |
10: 4,496,836 (GRCm39) |
D458G |
probably damaging |
Het |
Cfap57 |
T |
A |
4: 118,438,198 (GRCm39) |
M898L |
probably benign |
Het |
Crybg1 |
C |
T |
10: 43,834,309 (GRCm39) |
V1961I |
probably damaging |
Het |
Dsp |
T |
C |
13: 38,381,822 (GRCm39) |
S2257P |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,717,999 (GRCm39) |
V12A |
probably benign |
Het |
Foxk2 |
A |
G |
11: 121,187,925 (GRCm39) |
|
probably benign |
Het |
Galnt2l |
T |
C |
8: 125,054,837 (GRCm39) |
M204T |
probably damaging |
Het |
Gfi1b |
G |
A |
2: 28,504,797 (GRCm39) |
Q70* |
probably null |
Het |
Gsdmc |
T |
C |
15: 63,676,270 (GRCm39) |
T58A |
probably benign |
Het |
Hikeshi |
G |
A |
7: 89,572,818 (GRCm39) |
T26I |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,287,960 (GRCm39) |
D433G |
probably damaging |
Het |
Ndufb5 |
T |
A |
3: 32,799,048 (GRCm39) |
V55D |
probably damaging |
Het |
Nostrin |
T |
C |
2: 69,014,336 (GRCm39) |
S431P |
probably benign |
Het |
Pdcd1lg2 |
A |
T |
19: 29,423,462 (GRCm39) |
T169S |
possibly damaging |
Het |
Plekha7 |
A |
T |
7: 115,734,419 (GRCm39) |
M1006K |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,098,097 (GRCm39) |
I94F |
probably benign |
Het |
Rims2 |
A |
T |
15: 39,370,380 (GRCm39) |
D938V |
probably damaging |
Het |
Slc4a8 |
A |
G |
15: 100,705,319 (GRCm39) |
T842A |
possibly damaging |
Het |
Spata21 |
C |
A |
4: 140,838,675 (GRCm39) |
|
probably null |
Het |
Stk32a |
C |
T |
18: 43,443,510 (GRCm39) |
T229I |
possibly damaging |
Het |
Tent4b |
C |
T |
8: 88,978,886 (GRCm39) |
Q63* |
probably null |
Het |
Trim33 |
C |
T |
3: 103,237,498 (GRCm39) |
P185S |
probably benign |
Het |
Vcan |
A |
G |
13: 89,840,438 (GRCm39) |
V742A |
probably benign |
Het |
Vrtn |
A |
T |
12: 84,695,837 (GRCm39) |
I196F |
probably benign |
Het |
Wasf1 |
A |
T |
10: 40,796,293 (GRCm39) |
I8F |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,980,879 (GRCm39) |
I491M |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,809,775 (GRCm39) |
T1095A |
possibly damaging |
Het |
|
Other mutations in Tspoap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |