Incidental Mutation 'IGL03050:Thrap3'
| ID |
453427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thrap3
|
| Ensembl Gene |
ENSMUSG00000043962 |
| Gene Name |
thyroid hormone receptor associated protein 3 |
| Synonyms |
B230333E16Rik, Trap150, 9330151F09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
IGL03050 (G1)
|
| Quality Score |
33 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126057875-126096548 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 126059335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080919]
[ENSMUST00000094760]
[ENSMUST00000097891]
[ENSMUST00000163176]
|
| AlphaFold |
Q569Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080919
AA Change: R904W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: R904W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
Pfam:THRAP3_BCLAF1
|
123 |
788 |
1.9e-207 |
PFAM |
|
low complexity region
|
790 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094760
|
| SMART Domains |
Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
68 |
125 |
7.11e-22 |
SMART |
|
low complexity region
|
211 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
473 |
N/A |
INTRINSIC |
|
coiled coil region
|
482 |
510 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097891
|
| SMART Domains |
Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
57 |
4.29e-7 |
SMART |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
SH3
|
86 |
141 |
2.96e-19 |
SMART |
|
SH3
|
184 |
241 |
7.11e-22 |
SMART |
|
low complexity region
|
327 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
589 |
N/A |
INTRINSIC |
|
coiled coil region
|
598 |
626 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152402
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163459
|
| SMART Domains |
Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THRAP3_BCLAF1
|
1 |
39 |
4e-17 |
PFAM |
|
low complexity region
|
41 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
92 |
N/A |
INTRINSIC |
|
Pfam:Btz
|
124 |
192 |
3.1e-4 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154702
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163176
|
| Meta Mutation Damage Score |
0.9043 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd2 |
G |
A |
19: 42,028,533 (GRCm39) |
R63H |
probably damaging |
Het |
| Bbs2 |
C |
A |
8: 94,801,041 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
G |
T |
12: 102,779,065 (GRCm39) |
D400E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
T |
19: 47,636,537 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,368,085 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
G |
9: 64,962,118 (GRCm39) |
S386C |
probably benign |
Het |
| Dscaml1 |
A |
C |
9: 45,654,297 (GRCm39) |
D1443A |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,372,421 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,165,038 (GRCm39) |
R262Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,907,896 (GRCm39) |
S2702F |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,497 (GRCm39) |
S347R |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,309,604 (GRCm39) |
S615P |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mirt1 |
A |
G |
19: 53,433,710 (GRCm39) |
|
noncoding transcript |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mug1 |
T |
A |
6: 121,857,530 (GRCm39) |
S1085T |
possibly damaging |
Het |
| Myo18a |
A |
T |
11: 77,709,596 (GRCm39) |
T190S |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,054,191 (GRCm39) |
|
probably null |
Het |
| Or1ak2 |
T |
A |
2: 36,827,635 (GRCm39) |
F168Y |
probably damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
| Or1m1 |
A |
T |
9: 18,666,750 (GRCm39) |
Y60* |
probably null |
Het |
| Or5an1 |
G |
T |
19: 12,260,876 (GRCm39) |
V155L |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,589,785 (GRCm39) |
*312Q |
probably null |
Het |
| Relch |
T |
A |
1: 105,654,106 (GRCm39) |
V825E |
probably damaging |
Het |
| Rgma |
G |
A |
7: 73,067,263 (GRCm39) |
V173M |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,701,422 (GRCm39) |
S379F |
possibly damaging |
Het |
| Sec16a |
T |
A |
2: 26,305,759 (GRCm39) |
D2215V |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,599,680 (GRCm39) |
L370Q |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,669,139 (GRCm39) |
R322G |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,900 (GRCm39) |
M718T |
possibly damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,229 (GRCm39) |
F533L |
possibly damaging |
Het |
|
| Other mutations in Thrap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00639:Thrap3
|
APN |
4 |
126,059,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00654:Thrap3
|
APN |
4 |
126,059,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00763:Thrap3
|
APN |
4 |
126,059,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00907:Thrap3
|
APN |
4 |
126,059,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00990:Thrap3
|
APN |
4 |
126,059,188 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01722:Thrap3
|
APN |
4 |
126,059,322 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02487:Thrap3
|
APN |
4 |
126,060,794 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02802:Thrap3
|
UTSW |
4 |
126,059,157 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02837:Thrap3
|
UTSW |
4 |
126,059,157 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02988:Thrap3
|
UTSW |
4 |
126,059,335 (GRCm39) |
splice site |
probably null |
|
|
IGL03055:Thrap3
|
UTSW |
4 |
126,059,335 (GRCm39) |
splice site |
probably null |
|
|
R0585:Thrap3
|
UTSW |
4 |
126,072,367 (GRCm39) |
splice site |
probably null |
|
|
R1023:Thrap3
|
UTSW |
4 |
126,073,882 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1237:Thrap3
|
UTSW |
4 |
126,073,862 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1445:Thrap3
|
UTSW |
4 |
126,070,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Thrap3
|
UTSW |
4 |
126,073,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Thrap3
|
UTSW |
4 |
126,073,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Thrap3
|
UTSW |
4 |
126,069,189 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2064:Thrap3
|
UTSW |
4 |
126,069,189 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2065:Thrap3
|
UTSW |
4 |
126,069,189 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2066:Thrap3
|
UTSW |
4 |
126,069,189 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2067:Thrap3
|
UTSW |
4 |
126,069,189 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2098:Thrap3
|
UTSW |
4 |
126,073,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Thrap3
|
UTSW |
4 |
126,061,293 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4052:Thrap3
|
UTSW |
4 |
126,070,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Thrap3
|
UTSW |
4 |
126,065,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Thrap3
|
UTSW |
4 |
126,067,235 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4399:Thrap3
|
UTSW |
4 |
126,060,872 (GRCm39) |
splice site |
probably benign |
|
|
R5265:Thrap3
|
UTSW |
4 |
126,061,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Thrap3
|
UTSW |
4 |
126,074,279 (GRCm39) |
unclassified |
probably benign |
|
|
R5993:Thrap3
|
UTSW |
4 |
126,069,253 (GRCm39) |
splice site |
probably null |
|
|
R6305:Thrap3
|
UTSW |
4 |
126,074,600 (GRCm39) |
unclassified |
probably benign |
|
|
R6917:Thrap3
|
UTSW |
4 |
126,074,285 (GRCm39) |
unclassified |
probably benign |
|
|
R7124:Thrap3
|
UTSW |
4 |
126,074,231 (GRCm39) |
missense |
unknown |
|
|
R7167:Thrap3
|
UTSW |
4 |
126,078,920 (GRCm39) |
intron |
probably benign |
|
|
R7227:Thrap3
|
UTSW |
4 |
126,067,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Thrap3
|
UTSW |
4 |
126,072,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7695:Thrap3
|
UTSW |
4 |
126,073,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Thrap3
|
UTSW |
4 |
126,071,855 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7917:Thrap3
|
UTSW |
4 |
126,069,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8109:Thrap3
|
UTSW |
4 |
126,080,273 (GRCm39) |
missense |
unknown |
|
|
R9462:Thrap3
|
UTSW |
4 |
126,070,048 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCTCCTTGTTTAGCTCCAC -3'
(R):5'- TACAGCAGGGATGTTCCTCG -3'
Sequencing Primer
(F):5'- TTTCTTCCCCGGGCAAGG -3'
(R):5'- GATGTTCCTCGGTCTGAGCC -3'
|
| Posted On |
2017-02-08 |
Incidental Mutation