Incidental Mutation 'R1396:Tspoap1'
| ID |
162659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspoap1
|
| Ensembl Gene |
ENSMUSG00000034156 |
| Gene Name |
TSPO associated protein 1 |
| Synonyms |
Bzrap1, peripheral |
| MMRRC Submission |
039458-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1396 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87656946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 307
(Q307P)
|
| 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: Q367P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: Q367P
| 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: Q307P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: Q307P
| 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: ENSMUST00000148422
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 61,001,057 (GRCm39) |
P160S |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,311,558 (GRCm39) |
D1272Y |
probably benign |
Het |
| Akr1c20 |
A |
T |
13: 4,557,726 (GRCm39) |
V267D |
probably damaging |
Het |
| C1s1 |
A |
G |
6: 124,508,010 (GRCm39) |
S660P |
probably damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,987 (GRCm39) |
N248S |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,122,629 (GRCm39) |
T144A |
possibly damaging |
Het |
| Cdk20 |
T |
C |
13: 64,585,217 (GRCm39) |
I167T |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,825,023 (GRCm39) |
L1212S |
probably damaging |
Het |
| Clock |
G |
C |
5: 76,414,649 (GRCm39) |
D15E |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,343,446 (GRCm39) |
V667A |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,851,561 (GRCm39) |
|
probably null |
Het |
| Cyp2e1 |
A |
G |
7: 140,352,992 (GRCm39) |
D343G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Etf1 |
G |
A |
18: 35,041,220 (GRCm39) |
T298I |
possibly damaging |
Het |
| Gm5431 |
T |
C |
11: 48,786,261 (GRCm39) |
|
probably benign |
Het |
| Gss |
G |
A |
2: 155,409,641 (GRCm39) |
T265I |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,420,927 (GRCm39) |
S406L |
possibly damaging |
Het |
| Hgsnat |
C |
A |
8: 26,447,363 (GRCm39) |
M310I |
possibly damaging |
Het |
| Inpp5b |
G |
A |
4: 124,682,873 (GRCm39) |
R598H |
probably damaging |
Het |
| Ints2 |
G |
T |
11: 86,140,074 (GRCm39) |
Q253K |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,897,730 (GRCm39) |
M377V |
probably benign |
Het |
| Krt72 |
C |
T |
15: 101,694,440 (GRCm39) |
|
probably null |
Het |
| Lemd2 |
G |
C |
17: 27,409,706 (GRCm39) |
R482G |
probably damaging |
Het |
| Lrpprc |
C |
T |
17: 85,033,731 (GRCm39) |
D1049N |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,587,810 (GRCm39) |
H117Q |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,279,213 (GRCm39) |
F191Y |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,033,949 (GRCm39) |
T252A |
possibly damaging |
Het |
| Mgat4e |
T |
C |
1: 134,469,271 (GRCm39) |
T258A |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,440,168 (GRCm39) |
N542S |
probably damaging |
Het |
| Nln |
C |
T |
13: 104,198,261 (GRCm39) |
V184I |
probably benign |
Het |
| Nova1 |
A |
C |
12: 46,863,676 (GRCm39) |
F91L |
unknown |
Het |
| Polk |
T |
C |
13: 96,620,716 (GRCm39) |
I516V |
probably benign |
Het |
| Ppig |
C |
T |
2: 69,579,362 (GRCm39) |
P357S |
unknown |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 156,992,236 (GRCm39) |
H552Q |
probably damaging |
Het |
| Rnf41 |
G |
A |
10: 128,271,440 (GRCm39) |
E117K |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,970,452 (GRCm39) |
Y306H |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,974,435 (GRCm39) |
S126P |
probably benign |
Het |
| Sfr1 |
A |
G |
19: 47,722,129 (GRCm39) |
K182E |
probably benign |
Het |
| Slc25a4 |
C |
A |
8: 46,662,325 (GRCm39) |
R111L |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,393,710 (GRCm39) |
Y551F |
probably benign |
Het |
| Stard4 |
A |
T |
18: 33,339,263 (GRCm39) |
N80K |
probably damaging |
Het |
| Tbk1 |
G |
A |
10: 121,407,821 (GRCm39) |
T104M |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tmem102 |
A |
T |
11: 69,695,196 (GRCm39) |
W259R |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,743,962 (GRCm39) |
C466S |
probably benign |
Het |
| Ugt2b35 |
A |
G |
5: 87,159,389 (GRCm39) |
N528D |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,431,809 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,678 (GRCm39) |
T153M |
probably benign |
Het |
| Vmn1r89 |
T |
A |
7: 12,953,938 (GRCm39) |
S157T |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,230 (GRCm39) |
Y117F |
probably benign |
Het |
| Vmn2r116 |
A |
C |
17: 23,605,115 (GRCm39) |
M143L |
probably benign |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,261 (GRCm39) |
D727E |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,862,304 (GRCm39) |
I2974V |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,758,847 (GRCm39) |
G769D |
probably damaging |
Het |
| Zhx3 |
T |
A |
2: 160,622,940 (GRCm39) |
H409L |
possibly 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 |
|
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'- TGCAGGCCGTACTTCAGGATGATG -3'
(R):5'- GGACAGTTCCCTTCAAATTCCACCC -3'
Sequencing Primer
(F):5'- GAGCTGGTAAGTTCCTGTCACC -3'
(R):5'- CCAAAAGGAGACCTTCAGGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation