Incidental Mutation 'R7360:Tspoap1'
| ID |
571275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspoap1
|
| Ensembl Gene |
ENSMUSG00000034156 |
| Gene Name |
TSPO associated protein 1 |
| Synonyms |
Bzrap1, peripheral |
| MMRRC Submission |
045446-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87669347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1540
(Y1540C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039627]
[ENSMUST00000100644]
|
| AlphaFold |
Q7TNF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039627
AA Change: Y1540C
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: Y1540C
| 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: Y1480C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: Y1480C
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
G |
C |
4: 106,606,548 (GRCm39) |
P534A |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,355,626 (GRCm39) |
Y733N |
possibly damaging |
Het |
| Aste1 |
G |
T |
9: 105,274,835 (GRCm39) |
M358I |
probably damaging |
Het |
| B4galnt3 |
C |
T |
6: 120,209,940 (GRCm39) |
W61* |
probably null |
Het |
| Brd9 |
C |
T |
13: 74,092,942 (GRCm39) |
R311W |
probably benign |
Het |
| Cdkn1c |
T |
C |
7: 143,014,431 (GRCm39) |
D5G |
possibly damaging |
Het |
| Cerk |
A |
G |
15: 86,043,327 (GRCm39) |
F158S |
probably damaging |
Het |
| Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
| Cnot4 |
T |
A |
6: 35,041,941 (GRCm39) |
E235V |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,433,624 (GRCm39) |
V275A |
possibly damaging |
Het |
| Dcbld2 |
C |
A |
16: 58,285,683 (GRCm39) |
|
probably null |
Het |
| Dip2a |
T |
C |
10: 76,114,394 (GRCm39) |
R1029G |
probably damaging |
Het |
| Dnaaf1 |
A |
G |
8: 120,304,090 (GRCm39) |
T43A |
probably benign |
Het |
| Eaf2 |
C |
T |
16: 36,648,514 (GRCm39) |
S2N |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,348,719 (GRCm39) |
D164G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,584,005 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Gm1527 |
C |
T |
3: 28,968,691 (GRCm39) |
Q248* |
probably null |
Het |
| Gm29666 |
C |
T |
15: 84,798,469 (GRCm39) |
A31T |
unknown |
Het |
| Gmip |
C |
A |
8: 70,263,892 (GRCm39) |
A112D |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,617,197 (GRCm39) |
G13S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,494,597 (GRCm39) |
V4164D |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,820,202 (GRCm39) |
N580I |
probably benign |
Het |
| Krt25 |
G |
A |
11: 99,208,232 (GRCm39) |
T332M |
probably benign |
Het |
| Krt88 |
G |
T |
15: 101,345,643 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,615,858 (GRCm39) |
|
probably null |
Het |
| Mapkapk5 |
A |
G |
5: 121,675,169 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,474,460 (GRCm39) |
S1725L |
probably benign |
Het |
| Nckap1l |
T |
G |
15: 103,384,526 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,893,277 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
C |
11: 58,973,185 (GRCm39) |
V1996G |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,900 (GRCm39) |
N5I |
probably damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,331 (GRCm39) |
V114E |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 117,032,307 (GRCm39) |
T289A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,492,577 (GRCm39) |
K932R |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,625,632 (GRCm39) |
D1322G |
probably benign |
Het |
| Peli3 |
A |
T |
19: 4,985,103 (GRCm39) |
M136K |
possibly damaging |
Het |
| Pgm5 |
A |
G |
19: 24,812,181 (GRCm39) |
I117T |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,360,621 (GRCm39) |
D478G |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,541,272 (GRCm39) |
T474A |
probably benign |
Het |
| Ptger3 |
T |
C |
3: 157,272,764 (GRCm39) |
V37A |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,906 (GRCm39) |
S999P |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,274,306 (GRCm39) |
G18S |
probably benign |
Het |
| Rest |
T |
C |
5: 77,428,976 (GRCm39) |
V465A |
probably benign |
Het |
| Sart1 |
T |
C |
19: 5,433,231 (GRCm39) |
D422G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,869,972 (GRCm39) |
M4V |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,855,075 (GRCm39) |
V395A |
possibly damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,184,139 (GRCm39) |
S171T |
possibly damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,713 (GRCm39) |
S76T |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,132,341 (GRCm39) |
D223G |
unknown |
Het |
| Ssc4d |
T |
A |
5: 135,994,965 (GRCm39) |
S184C |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,926,383 (GRCm39) |
L408Q |
probably damaging |
Het |
| Usp43 |
C |
A |
11: 67,767,155 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
C |
5: 137,385,232 (GRCm39) |
V5067G |
unknown |
Het |
| Zfp180 |
C |
A |
7: 23,804,915 (GRCm39) |
L445I |
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 |
|
|
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 |
|
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'- AGCTGCCTCTCTCCAAAGTG -3'
(R):5'- CCAGTTCCGTTCAGCAGAAG -3'
Sequencing Primer
(F):5'- GTGTCAGCATCAACAGCT -3'
(R):5'- TTCCGTTCAGCAGAAGCAGAAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation