Incidental Mutation 'R5494:Tspoap1'
| ID |
432250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspoap1
|
| Ensembl Gene |
ENSMUSG00000034156 |
| Gene Name |
TSPO associated protein 1 |
| Synonyms |
Bzrap1, peripheral |
| MMRRC Submission |
043055-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5494 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87666031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 863
(T863I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039627]
[ENSMUST00000100644]
|
| AlphaFold |
Q7TNF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039627
AA Change: T923I
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: T923I
| 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: T863I
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: T863I
| 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: 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: ENSMUST00000153578
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,223,165 (GRCm39) |
E436G |
probably damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,762 (GRCm39) |
N3415D |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,882,121 (GRCm39) |
E139G |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,864,995 (GRCm39) |
L1374P |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,526,781 (GRCm39) |
S410P |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,555,431 (GRCm39) |
E809G |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
| Ddn |
C |
A |
15: 98,704,884 (GRCm39) |
R82L |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,771,394 (GRCm39) |
|
probably null |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,858,990 (GRCm39) |
*415W |
probably null |
Het |
| Fry |
A |
T |
5: 150,314,132 (GRCm39) |
D789V |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,207,178 (GRCm39) |
|
probably null |
Het |
| Gemin5 |
T |
A |
11: 58,021,526 (GRCm39) |
Y1025F |
probably damaging |
Het |
| Gjb5 |
C |
T |
4: 127,249,347 (GRCm39) |
V266M |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,749,045 (GRCm39) |
N3056K |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,183 (GRCm39) |
D342V |
probably damaging |
Het |
| H1f9 |
T |
C |
11: 94,858,843 (GRCm39) |
L46S |
probably benign |
Het |
| Hc |
A |
T |
2: 34,893,551 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
G |
16: 33,545,804 (GRCm39) |
D185G |
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,912,032 (GRCm39) |
M1865K |
possibly damaging |
Het |
| Il27 |
A |
G |
7: 126,192,100 (GRCm39) |
L12P |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,759,149 (GRCm39) |
C5Y |
unknown |
Het |
| Med25 |
C |
T |
7: 44,535,225 (GRCm39) |
V170M |
probably damaging |
Het |
| Mgat4a |
T |
A |
1: 37,493,898 (GRCm39) |
Y316F |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,899,709 (GRCm39) |
V725A |
unknown |
Het |
| Or52ac1 |
C |
A |
7: 104,245,932 (GRCm39) |
G152V |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,576,950 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,300 (GRCm39) |
S697P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,075,579 (GRCm39) |
Y751C |
probably damaging |
Het |
| Rbms2 |
G |
T |
10: 127,973,560 (GRCm39) |
T252N |
probably damaging |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Scfd1 |
A |
G |
12: 51,443,522 (GRCm39) |
|
probably null |
Het |
| Shank3 |
C |
T |
15: 89,432,441 (GRCm39) |
T1062M |
probably damaging |
Het |
| Slc28a1 |
G |
A |
7: 80,817,787 (GRCm39) |
G552E |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,682,214 (GRCm38) |
R96G |
probably benign |
Het |
| Tas2r102 |
T |
C |
6: 132,740,106 (GRCm39) |
V338A |
probably benign |
Het |
| Trim62 |
A |
T |
4: 128,778,999 (GRCm39) |
N145Y |
possibly damaging |
Het |
| Ubr5 |
C |
T |
15: 38,019,525 (GRCm39) |
C739Y |
possibly damaging |
Het |
| Vps13c |
G |
A |
9: 67,855,428 (GRCm39) |
V2498I |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
|
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'- AAAACATGGACCTGCGGAC -3'
(R):5'- TATGGACTGGCTTCCTGGAC -3'
Sequencing Primer
(F):5'- ATGTGTCTGTCCAGGCCCTAAC -3'
(R):5'- ACTTGGGGGACACCATTATCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation