Incidental Mutation 'R4599:Tspoap1'
| ID |
345459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspoap1
|
| Ensembl Gene |
ENSMUSG00000034156 |
| Gene Name |
TSPO associated protein 1 |
| Synonyms |
Bzrap1, peripheral |
| MMRRC Submission |
041815-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4599 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87760541-87785928 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87779521 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1634
(P1634L)
|
| 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: P1634L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: P1634L
| 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: P1574L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: P1574L
| 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 |
unknown
Transcript: ENSMUST00000142329
AA Change: P171L
|
| SMART Domains |
Protein: ENSMUSP00000118819
Gene: ENSMUSG00000034156
AA Change: P171L
| 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 |
unknown
Transcript: ENSMUST00000144502
AA Change: P245L
|
| SMART Domains |
Protein: ENSMUSP00000122665
Gene: ENSMUSG00000034156
AA Change: P245L
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154758
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 120,255,403 (GRCm38) |
V930A |
probably benign |
Het |
| Ankrd13b |
T |
C |
11: 77,471,668 (GRCm38) |
R677G |
probably benign |
Het |
| Apc |
T |
A |
18: 34,317,987 (GRCm38) |
Y2611* |
probably null |
Het |
| Apold1 |
A |
G |
6: 134,984,069 (GRCm38) |
Y162C |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,078,802 (GRCm38) |
I325V |
probably benign |
Het |
| Cab39 |
A |
G |
1: 85,848,329 (GRCm38) |
Y249C |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,875,900 (GRCm38) |
H239L |
probably damaging |
Het |
| Chrna7 |
A |
G |
7: 63,103,790 (GRCm38) |
M327T |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,235,810 (GRCm38) |
M499V |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,581,460 (GRCm38) |
E1002G |
probably benign |
Het |
| Clta |
C |
T |
4: 44,012,819 (GRCm38) |
P10S |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,774,559 (GRCm38) |
|
probably null |
Het |
| Coq6 |
T |
C |
12: 84,362,139 (GRCm38) |
V30A |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 127,988,128 (GRCm38) |
R20L |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,208,183 (GRCm38) |
V1547D |
probably damaging |
Het |
| Dapk1 |
C |
T |
13: 60,718,047 (GRCm38) |
P153S |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,239,536 (GRCm38) |
Y1545F |
probably damaging |
Het |
| Dpp6 |
G |
T |
5: 27,634,548 (GRCm38) |
G354C |
probably damaging |
Het |
| Dyrk1b |
T |
C |
7: 28,182,431 (GRCm38) |
L105P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,961,859 (GRCm38) |
S86P |
probably benign |
Het |
| Fam166b |
T |
C |
4: 43,427,574 (GRCm38) |
H250R |
possibly damaging |
Het |
| Gale |
C |
A |
4: 135,967,837 (GRCm38) |
S341* |
probably null |
Het |
| Galnt4 |
T |
A |
10: 99,109,493 (GRCm38) |
V360E |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,622,945 (GRCm38) |
C24* |
probably null |
Het |
| Gcnt2 |
G |
T |
13: 40,887,490 (GRCm38) |
V42L |
probably benign |
Het |
| Herc6 |
A |
G |
6: 57,659,713 (GRCm38) |
I805V |
probably benign |
Het |
| Ints12 |
T |
A |
3: 133,098,453 (GRCm38) |
I67N |
probably benign |
Het |
| Irx1 |
C |
A |
13: 71,960,113 (GRCm38) |
R150L |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,530,459 (GRCm38) |
Y45C |
unknown |
Het |
| Krt35 |
T |
C |
11: 100,094,008 (GRCm38) |
T275A |
probably damaging |
Het |
| Laptm5 |
G |
T |
4: 130,916,005 (GRCm38) |
|
probably benign |
Het |
| Lin7a |
T |
C |
10: 107,412,166 (GRCm38) |
S111P |
unknown |
Het |
| Med27 |
A |
G |
2: 29,524,458 (GRCm38) |
D159G |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 87,708,578 (GRCm38) |
K546R |
probably damaging |
Het |
| Myo1a |
A |
T |
10: 127,720,151 (GRCm38) |
|
probably null |
Het |
| Myo1c |
T |
C |
11: 75,668,193 (GRCm38) |
F604L |
probably damaging |
Het |
| Myrip |
A |
G |
9: 120,464,784 (GRCm38) |
K782E |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,521,068 (GRCm38) |
D88G |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,455,252 (GRCm38) |
D375G |
probably damaging |
Het |
| Olfr1380 |
T |
C |
11: 49,564,718 (GRCm38) |
S266P |
probably damaging |
Het |
| Olfr676 |
A |
G |
7: 105,036,073 (GRCm38) |
I292V |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,798,111 (GRCm38) |
H187R |
probably damaging |
Het |
| Pcdhgb1 |
A |
T |
18: 37,681,557 (GRCm38) |
N367I |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 153,012,390 (GRCm38) |
I77V |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,991,069 (GRCm38) |
E930G |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 99,061,764 (GRCm38) |
R662Q |
probably benign |
Het |
| Pla2g4e |
T |
G |
2: 120,186,382 (GRCm38) |
H226P |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,994,276 (GRCm38) |
V177E |
probably damaging |
Het |
| Prmt7 |
A |
G |
8: 106,250,329 (GRCm38) |
S558G |
possibly damaging |
Het |
| Pspc1 |
A |
C |
14: 56,777,789 (GRCm38) |
|
probably null |
Het |
| Rilp |
T |
C |
11: 75,512,760 (GRCm38) |
S343P |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,407,910 (GRCm38) |
M194V |
probably damaging |
Het |
| Rsu1 |
T |
C |
2: 13,170,004 (GRCm38) |
Y225C |
probably damaging |
Het |
| Rundc1 |
A |
G |
11: 101,433,926 (GRCm38) |
N486S |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,654,231 (GRCm38) |
I65N |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 123,258,378 (GRCm38) |
E230G |
probably benign |
Het |
| Spint1 |
T |
C |
2: 119,246,460 (GRCm38) |
S342P |
probably damaging |
Het |
| Stard3nl |
A |
G |
13: 19,367,753 (GRCm38) |
S214P |
probably damaging |
Het |
| Tcp10a |
A |
C |
17: 7,336,924 (GRCm38) |
T271P |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,472,634 (GRCm38) |
Y1091H |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,617,332 (GRCm38) |
Y375C |
probably benign |
Het |
| Tmem107 |
T |
A |
11: 69,071,448 (GRCm38) |
M77K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,531,747 (GRCm38) |
K202E |
probably damaging |
Het |
| Ttc7b |
G |
A |
12: 100,500,117 (GRCm38) |
R79C |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,911,647 (GRCm38) |
N4402S |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,156,456 (GRCm38) |
I703N |
probably damaging |
Het |
| Xrcc4 |
A |
G |
13: 90,062,007 (GRCm38) |
|
probably null |
Het |
| Zp3 |
A |
T |
5: 135,984,235 (GRCm38) |
K168* |
probably null |
Het |
|
| Other mutations in Tspoap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Tspoap1
|
APN |
11 |
87,777,821 (GRCm38) |
splice site |
probably null |
|
|
IGL01718:Tspoap1
|
APN |
11 |
87,780,255 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02427:Tspoap1
|
APN |
11 |
87,762,515 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02487:Tspoap1
|
APN |
11 |
87,762,516 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02730:Tspoap1
|
APN |
11 |
87,781,709 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02979:Tspoap1
|
APN |
11 |
87,770,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0384:Tspoap1
|
UTSW |
11 |
87,766,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0396:Tspoap1
|
UTSW |
11 |
87,776,346 (GRCm38) |
splice site |
probably benign |
|
|
R0470:Tspoap1
|
UTSW |
11 |
87,776,162 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0637:Tspoap1
|
UTSW |
11 |
87,777,240 (GRCm38) |
splice site |
probably benign |
|
|
R0671:Tspoap1
|
UTSW |
11 |
87,762,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0960:Tspoap1
|
UTSW |
11 |
87,770,595 (GRCm38) |
splice site |
probably benign |
|
|
R0989:Tspoap1
|
UTSW |
11 |
87,765,823 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1396:Tspoap1
|
UTSW |
11 |
87,766,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1792:Tspoap1
|
UTSW |
11 |
87,765,881 (GRCm38) |
splice site |
probably null |
|
|
R2901:Tspoap1
|
UTSW |
11 |
87,777,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2902:Tspoap1
|
UTSW |
11 |
87,777,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3969:Tspoap1
|
UTSW |
11 |
87,762,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4400:Tspoap1
|
UTSW |
11 |
87,775,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4635:Tspoap1
|
UTSW |
11 |
87,777,857 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4731:Tspoap1
|
UTSW |
11 |
87,765,647 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4755:Tspoap1
|
UTSW |
11 |
87,771,663 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4780:Tspoap1
|
UTSW |
11 |
87,778,443 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R4960:Tspoap1
|
UTSW |
11 |
87,766,396 (GRCm38) |
nonsense |
probably null |
|
|
R5494:Tspoap1
|
UTSW |
11 |
87,775,205 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5687:Tspoap1
|
UTSW |
11 |
87,777,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6200:Tspoap1
|
UTSW |
11 |
87,761,703 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6563:Tspoap1
|
UTSW |
11 |
87,777,159 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6816:Tspoap1
|
UTSW |
11 |
87,765,665 (GRCm38) |
missense |
probably benign |
|
|
R6897:Tspoap1
|
UTSW |
11 |
87,765,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7141:Tspoap1
|
UTSW |
11 |
87,774,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7215:Tspoap1
|
UTSW |
11 |
87,770,489 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7341:Tspoap1
|
UTSW |
11 |
87,766,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7360:Tspoap1
|
UTSW |
11 |
87,778,521 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7394:Tspoap1
|
UTSW |
11 |
87,766,119 (GRCm38) |
nonsense |
probably null |
|
|
R7483:Tspoap1
|
UTSW |
11 |
87,761,525 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7617:Tspoap1
|
UTSW |
11 |
87,763,625 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7793:Tspoap1
|
UTSW |
11 |
87,764,310 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7814:Tspoap1
|
UTSW |
11 |
87,775,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8371:Tspoap1
|
UTSW |
11 |
87,778,301 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8768:Tspoap1
|
UTSW |
11 |
87,778,371 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8987:Tspoap1
|
UTSW |
11 |
87,763,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9004:Tspoap1
|
UTSW |
11 |
87,779,458 (GRCm38) |
missense |
|
|
|
R9259:Tspoap1
|
UTSW |
11 |
87,779,524 (GRCm38) |
missense |
|
|
|
R9339:Tspoap1
|
UTSW |
11 |
87,778,013 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9424:Tspoap1
|
UTSW |
11 |
87,761,256 (GRCm38) |
start gained |
probably benign |
|
|
R9439:Tspoap1
|
UTSW |
11 |
87,774,709 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9455:Tspoap1
|
UTSW |
11 |
87,770,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Tspoap1
|
UTSW |
11 |
87,776,057 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAGAAACTGGGGAGTCC -3'
(R):5'- ATTCAACCATCGGGCTCTAG -3'
Sequencing Primer
(F):5'- TACCACTGAGCTGGGTGAG -3'
(R):5'- TCTAGAAAGCCATGCTCCCTGAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation