Incidental Mutation 'R5687:Tspoap1'
ID |
443442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tspoap1
|
Ensembl Gene |
ENSMUSG00000034156 |
Gene Name |
TSPO associated protein 1 |
Synonyms |
Bzrap1, peripheral |
MMRRC Submission |
043320-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5687 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
87651367-87676754 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87667952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1192
(I1192N)
|
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: I1252N
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048063 Gene: ENSMUSG00000034156 AA Change: I1252N
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: I1192N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098209 Gene: ENSMUSG00000034156 AA Change: I1192N
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: I69N
|
SMART Domains |
Protein: ENSMUSP00000118819 Gene: ENSMUSG00000034156 AA Change: I69N
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: I143N
|
SMART Domains |
Protein: ENSMUSP00000122665 Gene: ENSMUSG00000034156 AA Change: I143N
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
|
Meta Mutation Damage Score |
0.0965 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (72/73) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
A |
15: 94,223,852 (GRCm39) |
D1292V |
probably benign |
Het |
Adcy2 |
A |
T |
13: 68,768,938 (GRCm39) |
C1063* |
probably null |
Het |
Adcy2 |
A |
T |
13: 68,790,688 (GRCm39) |
V892D |
probably damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,648,329 (GRCm39) |
D497G |
probably benign |
Het |
Anks1b |
A |
C |
10: 90,750,573 (GRCm39) |
I195L |
probably benign |
Het |
Asmt |
G |
T |
X: 169,111,749 (GRCm39) |
S377I |
unknown |
Het |
C1s1 |
T |
A |
6: 124,517,909 (GRCm39) |
T24S |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,342,854 (GRCm39) |
|
probably benign |
Het |
Ccndbp1 |
T |
C |
2: 120,845,183 (GRCm39) |
|
probably benign |
Het |
Cct8 |
T |
C |
16: 87,285,709 (GRCm39) |
I250V |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,234,684 (GRCm39) |
T135A |
possibly damaging |
Het |
Col11a1 |
T |
C |
3: 114,010,752 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,379,529 (GRCm39) |
M575T |
probably benign |
Het |
Dmp1 |
C |
T |
5: 104,354,952 (GRCm39) |
|
probably benign |
Het |
Emc1 |
G |
T |
4: 139,102,691 (GRCm39) |
R950L |
probably damaging |
Het |
Enpep |
T |
C |
3: 129,092,743 (GRCm39) |
|
probably null |
Het |
Eya1 |
G |
A |
1: 14,253,476 (GRCm39) |
T500I |
probably damaging |
Het |
Fam169a |
T |
C |
13: 97,230,126 (GRCm39) |
F54L |
probably damaging |
Het |
Fbxo8 |
A |
G |
8: 57,044,552 (GRCm39) |
K285R |
probably damaging |
Het |
Galnt1 |
A |
T |
18: 24,405,807 (GRCm39) |
E416D |
probably benign |
Het |
Gcc1 |
T |
A |
6: 28,419,232 (GRCm39) |
|
probably null |
Het |
Gm10800 |
T |
A |
2: 98,496,965 (GRCm39) |
Y196F |
probably benign |
Het |
Gmpr |
T |
A |
13: 45,692,496 (GRCm39) |
|
probably null |
Het |
Jrkl |
C |
T |
9: 13,244,387 (GRCm39) |
E425K |
probably benign |
Het |
Kl |
T |
G |
5: 150,911,931 (GRCm39) |
I560S |
possibly damaging |
Het |
Kyat3 |
C |
A |
3: 142,440,343 (GRCm39) |
R356S |
probably null |
Het |
Lrig2 |
C |
T |
3: 104,371,388 (GRCm39) |
|
probably null |
Het |
Lrrc47 |
A |
G |
4: 154,100,140 (GRCm39) |
T239A |
probably benign |
Het |
Map4k2 |
T |
C |
19: 6,395,672 (GRCm39) |
|
probably benign |
Het |
Mon2 |
A |
G |
10: 122,844,144 (GRCm39) |
S1469P |
probably damaging |
Het |
Mthfd1l |
G |
A |
10: 3,940,002 (GRCm39) |
|
probably null |
Het |
Mvk |
G |
T |
5: 114,588,826 (GRCm39) |
G144V |
probably damaging |
Het |
Nasp |
T |
A |
4: 116,463,002 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
A |
C |
3: 125,232,258 (GRCm39) |
N276H |
possibly damaging |
Het |
Nsmf |
C |
T |
2: 24,946,079 (GRCm39) |
P189S |
probably damaging |
Het |
Nt5m |
T |
G |
11: 59,743,649 (GRCm39) |
D92E |
probably benign |
Het |
Or10g6 |
T |
G |
9: 39,933,731 (GRCm39) |
L14R |
probably damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,033 (GRCm39) |
|
noncoding transcript |
Het |
Or4p23 |
A |
T |
2: 88,577,094 (GRCm39) |
I46N |
probably damaging |
Het |
Pan3 |
T |
A |
5: 147,391,982 (GRCm39) |
I119N |
probably damaging |
Het |
Pard6b |
A |
T |
2: 167,940,546 (GRCm39) |
S178C |
probably damaging |
Het |
Parl |
A |
G |
16: 20,106,728 (GRCm39) |
|
probably benign |
Het |
Pdk2 |
A |
G |
11: 94,919,851 (GRCm39) |
|
probably benign |
Het |
Prag1 |
A |
G |
8: 36,613,967 (GRCm39) |
E1173G |
probably benign |
Het |
Prph2 |
T |
A |
17: 47,234,391 (GRCm39) |
L320Q |
probably damaging |
Het |
Psmd3 |
T |
C |
11: 98,584,495 (GRCm39) |
I200T |
probably damaging |
Het |
Rhbdd3 |
T |
A |
11: 5,055,707 (GRCm39) |
S324T |
probably damaging |
Het |
Rps6-ps2 |
A |
T |
8: 89,533,112 (GRCm39) |
|
noncoding transcript |
Het |
Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
Samd4 |
A |
G |
14: 47,254,022 (GRCm39) |
N61S |
probably benign |
Het |
Sfrp2 |
G |
A |
3: 83,674,146 (GRCm39) |
A100T |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,279,700 (GRCm39) |
T25A |
probably benign |
Het |
Sntg1 |
C |
A |
1: 8,533,667 (GRCm39) |
R329L |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,228,669 (GRCm39) |
F285L |
probably damaging |
Het |
Speg |
T |
C |
1: 75,395,773 (GRCm39) |
|
probably null |
Het |
Srgap1 |
T |
C |
10: 121,661,541 (GRCm39) |
Y533C |
probably damaging |
Het |
Supt5 |
C |
A |
7: 28,017,188 (GRCm39) |
S668I |
probably benign |
Het |
Taf6l |
T |
G |
19: 8,750,676 (GRCm39) |
I133L |
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,074,279 (GRCm39) |
|
probably benign |
Het |
Tmem115 |
A |
G |
9: 107,412,054 (GRCm39) |
N126S |
probably benign |
Het |
Trgc1 |
A |
T |
13: 19,400,729 (GRCm39) |
I153F |
unknown |
Het |
Vcan |
T |
C |
13: 89,826,253 (GRCm39) |
I3184V |
probably damaging |
Het |
Yeats4 |
G |
A |
10: 117,051,585 (GRCm39) |
T224M |
probably benign |
Het |
Zc3h13 |
A |
T |
14: 75,569,400 (GRCm39) |
R1416* |
probably null |
Het |
Zmynd12 |
T |
A |
4: 119,299,098 (GRCm39) |
Y193N |
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 |
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'- ACCCTTTATGATTCTGGCTGGG -3'
(R):5'- ACACCTAGACTTGCTGGAGC -3'
Sequencing Primer
(F):5'- GGTTGACCCTTCCTAGAGTCC -3'
(R):5'- AGCAGCTGCCATGGGAGTG -3'
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Posted On |
2016-11-09 |