Incidental Mutation 'IGL00907:Thrap3'
| ID |
278062 |
| 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: 0.924)
|
| Stock # |
IGL00907
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
A |
G |
10: 4,454,051 (GRCm38) |
F379V |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,776 (GRCm39) |
D502G |
possibly damaging |
Het |
| Brwd3 |
A |
G |
X: 107,827,852 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,782,486 (GRCm39) |
H1259Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,840,435 (GRCm39) |
I1401T |
probably damaging |
Het |
| Csf1 |
T |
C |
3: 107,657,662 (GRCm39) |
N76S |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,382,329 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,506,989 (GRCm39) |
I141N |
probably damaging |
Het |
| Etl4 |
G |
A |
2: 20,771,289 (GRCm39) |
G674D |
possibly damaging |
Het |
| Fam234a |
G |
A |
17: 26,432,500 (GRCm39) |
R550W |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,795,208 (GRCm39) |
S347P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,461,433 (GRCm39) |
I157L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,384 (GRCm39) |
S1269P |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,764 (GRCm39) |
|
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,425,911 (GRCm39) |
C95Y |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,020,397 (GRCm39) |
V383A |
probably benign |
Het |
| Mael |
A |
G |
1: 166,032,418 (GRCm39) |
Y314H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,590 (GRCm39) |
V794A |
possibly damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,999,229 (GRCm39) |
I340F |
probably damaging |
Het |
| Or4c103 |
A |
G |
2: 88,513,638 (GRCm39) |
V146A |
probably benign |
Het |
| Or5p56 |
A |
T |
7: 107,590,097 (GRCm39) |
D175V |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,528 (GRCm39) |
D89E |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,096,003 (GRCm39) |
V641A |
probably benign |
Het |
| Phf24 |
C |
T |
4: 42,938,667 (GRCm39) |
T264I |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,452,848 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
C |
2: 66,158,141 (GRCm39) |
S411A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,994,608 (GRCm39) |
V112A |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,476,765 (GRCm39) |
N206S |
probably benign |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
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 |
|
IGL00763: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