Incidental Mutation 'IGL00763:Thrap3'
| ID |
277871 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.935)
|
| Stock # |
IGL00763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126057875-126096548 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126059371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 892
(G892S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080919]
[ENSMUST00000094760]
[ENSMUST00000097891]
[ENSMUST00000163176]
|
| AlphaFold |
Q569Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080919
AA Change: G892S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: G892S
| 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 |
unknown
Transcript: ENSMUST00000163459
AA Change: G182S
|
| SMART Domains |
Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962
AA Change: G182S
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp3 |
A |
C |
5: 99,020,238 (GRCm39) |
R220S |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,395,363 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,411,537 (GRCm39) |
F635Y |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,518,823 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,045,407 (GRCm39) |
I341T |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,715,531 (GRCm39) |
|
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,586,107 (GRCm39) |
R358H |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,071,326 (GRCm39) |
|
probably benign |
Het |
| Fgf15 |
T |
A |
7: 144,453,629 (GRCm39) |
F201I |
probably damaging |
Het |
| Galp |
A |
G |
7: 6,211,499 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,938,314 (GRCm39) |
|
probably benign |
Het |
| Iqcb1 |
A |
T |
16: 36,676,649 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,657,994 (GRCm39) |
V18I |
probably benign |
Het |
| Lypd8l |
T |
G |
11: 58,503,707 (GRCm39) |
|
probably benign |
Het |
| Morc1 |
A |
C |
16: 48,432,689 (GRCm39) |
Q719P |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,727,076 (GRCm39) |
D568G |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,366,998 (GRCm39) |
E204G |
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,853,073 (GRCm39) |
T403A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,356,827 (GRCm39) |
T12A |
probably benign |
Het |
| Slc12a7 |
A |
T |
13: 73,942,201 (GRCm39) |
N359I |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,235,453 (GRCm39) |
D241E |
probably damaging |
Het |
| Slc23a2 |
G |
T |
2: 131,943,420 (GRCm39) |
A27E |
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,220,958 (GRCm39) |
I200M |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,669,872 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfsfm13 |
T |
C |
11: 69,575,536 (GRCm39) |
D256G |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,518,068 (GRCm39) |
A605T |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 48,939,463 (GRCm39) |
T240A |
probably benign |
Het |
| Zap70 |
A |
T |
1: 36,818,333 (GRCm39) |
D340V |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,231,944 (GRCm39) |
F100I |
probably 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 |
|
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 |
|
|
IGL03050: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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation