Incidental Mutation 'R0637:Tspoap1'
ID |
56768 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tspoap1
|
Ensembl Gene |
ENSMUSG00000034156 |
Gene Name |
TSPO associated protein 1 |
Synonyms |
Bzrap1, peripheral |
MMRRC Submission |
038826-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0637 (G1)
|
Quality Score |
176 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 87668066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039627]
[ENSMUST00000100644]
|
AlphaFold |
Q7TNF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039627
|
SMART Domains |
Protein: ENSMUSP00000048063 Gene: ENSMUSG00000034156
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 benign
Transcript: ENSMUST00000100644
|
SMART Domains |
Protein: ENSMUSP00000098209 Gene: ENSMUSG00000034156
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 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154758
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153578
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 94.9%
|
Validation Efficiency |
100% (68/68) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
C |
T |
9: 53,498,831 (GRCm39) |
D285N |
probably damaging |
Het |
Aldh3a1 |
G |
A |
11: 61,106,304 (GRCm39) |
|
probably benign |
Het |
Alms1 |
A |
G |
6: 85,600,015 (GRCm39) |
T2083A |
possibly damaging |
Het |
Atrip |
C |
T |
9: 108,890,241 (GRCm39) |
M143I |
possibly damaging |
Het |
Aup1 |
T |
A |
6: 83,033,842 (GRCm39) |
V344D |
probably damaging |
Het |
Baiap2 |
G |
A |
11: 119,891,405 (GRCm39) |
V511M |
probably benign |
Het |
Bnip2 |
T |
A |
9: 69,910,955 (GRCm39) |
|
probably null |
Het |
Cacna1i |
A |
T |
15: 80,256,855 (GRCm39) |
Y1083F |
probably damaging |
Het |
Cbr4 |
T |
C |
8: 61,943,740 (GRCm39) |
|
probably benign |
Het |
Ces2b |
C |
T |
8: 105,561,237 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
G |
17: 15,962,550 (GRCm39) |
N769S |
possibly damaging |
Het |
Clca3b |
A |
T |
3: 144,533,701 (GRCm39) |
V558D |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,564,017 (GRCm39) |
D1736G |
probably benign |
Het |
Cpne8 |
C |
A |
15: 90,532,824 (GRCm39) |
C61F |
probably damaging |
Het |
Cxcr1 |
A |
G |
1: 74,231,998 (GRCm39) |
I8T |
probably benign |
Het |
D630003M21Rik |
T |
G |
2: 158,037,327 (GRCm39) |
|
probably benign |
Het |
Dcaf17 |
T |
A |
2: 70,890,763 (GRCm39) |
D99E |
probably damaging |
Het |
Fbf1 |
C |
T |
11: 116,050,880 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
A |
7: 129,773,354 (GRCm39) |
H570L |
possibly damaging |
Het |
Gars1 |
G |
A |
6: 55,046,472 (GRCm39) |
|
probably null |
Het |
Gm10309 |
A |
G |
17: 86,806,463 (GRCm39) |
|
probably benign |
Het |
Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
Gm9892 |
G |
A |
8: 52,649,860 (GRCm39) |
Q78* |
probably null |
Het |
Has1 |
A |
G |
17: 18,064,125 (GRCm39) |
Y505H |
possibly damaging |
Het |
Hivep3 |
T |
A |
4: 119,989,738 (GRCm39) |
L2063* |
probably null |
Het |
Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
Itgb3 |
T |
C |
11: 104,549,702 (GRCm39) |
V614A |
probably benign |
Het |
Lrrc23 |
A |
G |
6: 124,755,321 (GRCm39) |
|
probably benign |
Het |
Lrrc63 |
A |
T |
14: 75,335,660 (GRCm39) |
|
probably benign |
Het |
Mfhas1 |
C |
T |
8: 36,057,180 (GRCm39) |
R357* |
probably null |
Het |
Mink1 |
C |
A |
11: 70,492,502 (GRCm39) |
N123K |
probably damaging |
Het |
Mtmr4 |
A |
G |
11: 87,501,890 (GRCm39) |
H591R |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,606,058 (GRCm39) |
T923A |
probably benign |
Het |
Ncapg |
A |
G |
5: 45,844,666 (GRCm39) |
T554A |
probably damaging |
Het |
Nfe2l1 |
T |
C |
11: 96,718,514 (GRCm39) |
Y7C |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,942,470 (GRCm39) |
M4904K |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,973,602 (GRCm39) |
L1910I |
probably damaging |
Het |
Or8b41 |
T |
C |
9: 38,055,178 (GRCm39) |
F244S |
probably benign |
Het |
Pcdhb15 |
T |
A |
18: 37,608,619 (GRCm39) |
V617E |
probably damaging |
Het |
Pelp1 |
T |
C |
11: 70,286,530 (GRCm39) |
T533A |
possibly damaging |
Het |
Pgrmc1 |
T |
C |
X: 35,865,924 (GRCm39) |
F160S |
probably damaging |
Het |
Pink1 |
G |
T |
4: 138,045,357 (GRCm39) |
P239Q |
probably damaging |
Het |
Pramel25 |
A |
T |
4: 143,520,479 (GRCm39) |
Y77F |
probably benign |
Het |
Prr27 |
A |
G |
5: 87,999,005 (GRCm39) |
|
probably benign |
Het |
Rbpms |
G |
A |
8: 34,296,864 (GRCm39) |
P138S |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,445,055 (GRCm39) |
|
probably benign |
Het |
Rgs3 |
T |
C |
4: 62,564,910 (GRCm39) |
|
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Robo1 |
C |
T |
16: 72,798,839 (GRCm39) |
T933M |
probably benign |
Het |
Sinhcaf |
A |
G |
6: 148,832,163 (GRCm39) |
|
probably benign |
Het |
Steap4 |
T |
C |
5: 8,028,398 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,689,560 (GRCm39) |
Y2009C |
probably damaging |
Het |
Tnr |
A |
C |
1: 159,677,905 (GRCm39) |
T97P |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,620,542 (GRCm39) |
L1320* |
probably null |
Het |
Topaz1 |
A |
G |
9: 122,626,727 (GRCm39) |
M1452V |
probably benign |
Het |
Trank1 |
T |
G |
9: 111,219,509 (GRCm39) |
F2082C |
probably damaging |
Het |
Trim24 |
C |
A |
6: 37,935,494 (GRCm39) |
|
probably null |
Het |
Ubr4 |
T |
C |
4: 139,126,926 (GRCm39) |
L483P |
probably damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,033,999 (GRCm39) |
T508S |
probably benign |
Het |
Vps18 |
C |
T |
2: 119,124,386 (GRCm39) |
R438C |
probably damaging |
Het |
Zfp366 |
C |
A |
13: 99,365,474 (GRCm39) |
R212S |
probably damaging |
Het |
Zkscan4 |
T |
A |
13: 21,665,477 (GRCm39) |
C122S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTGCAGCCATTAAGCACTGCC -3'
(R):5'- AATGAAATGTGCTCCCCTCTCCAAC -3'
Sequencing Primer
(F):5'- ATATGTCAGAGCTTGGAGTTCACC -3'
(R):5'- ACTCCCTAAGGCAGCCG -3'
|
Posted On |
2013-07-11 |