Incidental Mutation 'R4400:Tspoap1'
| ID |
326599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspoap1
|
| Ensembl Gene |
ENSMUSG00000034156 |
| Gene Name |
TSPO associated protein 1 |
| Synonyms |
Bzrap1, peripheral |
| MMRRC Submission |
041131-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87666429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 947
(S947P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039627]
[ENSMUST00000100644]
|
| AlphaFold |
Q7TNF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039627
AA Change: S1007P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: S1007P
| 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: S947P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: S947P
| 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: ENSMUST00000153578
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.3%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp4b |
A |
G |
8: 13,438,810 (GRCm39) |
F189L |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,922,221 (GRCm39) |
Y372N |
probably benign |
Het |
| Bves |
T |
C |
10: 45,245,389 (GRCm39) |
V354A |
probably benign |
Het |
| Cd79b |
A |
T |
11: 106,202,836 (GRCm39) |
Y195* |
probably null |
Het |
| Cog6 |
A |
C |
3: 52,920,362 (GRCm39) |
D131E |
probably benign |
Het |
| Elp3 |
C |
T |
14: 65,785,539 (GRCm39) |
E421K |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,157,378 (GRCm39) |
F237Y |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,247,709 (GRCm39) |
N122S |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,051,042 (GRCm39) |
K157E |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,871,970 (GRCm39) |
E141G |
possibly damaging |
Het |
| Gm26888 |
T |
C |
11: 119,044,853 (GRCm39) |
|
silent |
Het |
| Gnrhr |
T |
C |
5: 86,330,108 (GRCm39) |
|
probably null |
Het |
| Hoxd13 |
A |
T |
2: 74,500,359 (GRCm39) |
D300V |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,448,052 (GRCm39) |
N235S |
probably damaging |
Het |
| Itgam |
T |
G |
7: 127,680,830 (GRCm39) |
L253R |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Matr3 |
A |
T |
18: 35,716,969 (GRCm39) |
K591N |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,785,897 (GRCm39) |
I731F |
possibly damaging |
Het |
| Mrtfa |
G |
A |
15: 80,905,124 (GRCm39) |
Q103* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,124 (GRCm39) |
D2690G |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,220,981 (GRCm39) |
Q1140R |
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,343,798 (GRCm39) |
I45V |
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,148,961 (GRCm39) |
V304I |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,571,209 (GRCm39) |
L114P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,754,736 (GRCm39) |
F1028L |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,327 (GRCm39) |
V106A |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,528 (GRCm39) |
T255A |
possibly damaging |
Het |
| Shoc2 |
A |
G |
19: 54,019,660 (GRCm39) |
I568V |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Ssrp1 |
A |
T |
2: 84,868,285 (GRCm39) |
D9V |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,694,883 (GRCm39) |
D293E |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,818,636 (GRCm39) |
D404Y |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,005,540 (GRCm39) |
S416P |
possibly damaging |
Het |
| Trim60 |
G |
T |
8: 65,453,864 (GRCm39) |
Y128* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,612,739 (GRCm39) |
S17113R |
probably damaging |
Het |
| Ubqln1 |
T |
A |
13: 58,341,202 (GRCm39) |
N183I |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Ucp2 |
A |
G |
7: 100,148,557 (GRCm39) |
*310W |
probably null |
Het |
| Wdr76 |
A |
G |
2: 121,359,314 (GRCm39) |
M218V |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,884,392 (GRCm39) |
L998R |
possibly damaging |
Het |
| Zxdc |
G |
A |
6: 90,346,792 (GRCm39) |
G51E |
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 |
|
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'- CCAGGAAGCCAGTCCATAAG -3'
(R):5'- ATGGGTTTACTATACAGGGCCC -3'
Sequencing Primer
(F):5'- TCCATAAGGGAGACTGGCCTTG -3'
(R):5'- GGGTTTACTATACAGGGCCCAAAAAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation