Incidental Mutation 'R2098:Thrap3'
ID |
230358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thrap3
|
Ensembl Gene |
ENSMUSG00000043962 |
Gene Name |
thyroid hormone receptor associated protein 3 |
Synonyms |
B230333E16Rik, Trap150, 9330151F09Rik |
MMRRC Submission |
040102-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R2098 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126057875-126096548 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126073823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 308
(S308P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080919]
[ENSMUST00000106142]
[ENSMUST00000123008]
[ENSMUST00000136157]
[ENSMUST00000163306]
[ENSMUST00000169403]
|
AlphaFold |
Q569Z6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080919
AA Change: S308P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000079722 Gene: ENSMUSG00000043962 AA Change: S308P
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 damaging
Transcript: ENSMUST00000106142
AA Change: S308P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101748 Gene: ENSMUSG00000043962 AA Change: S308P
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 |
709 |
8.7e-163 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123008
|
SMART Domains |
Protein: ENSMUSP00000131956 Gene: ENSMUSG00000043962
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136157
|
SMART Domains |
Protein: ENSMUSP00000120140 Gene: ENSMUSG00000043962
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151728
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163306
|
SMART Domains |
Protein: ENSMUSP00000126399 Gene: ENSMUSG00000043962
Domain | Start | End | E-Value | Type |
Pfam:THRAP3_BCLAF1
|
49 |
136 |
1.2e-52 |
PFAM |
|
Predicted Effect |
probably benign
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: ENSMUST00000169855
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169403
|
SMART Domains |
Protein: ENSMUSP00000125856 Gene: ENSMUSG00000043962
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
51 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,927,405 (GRCm39) |
E1316G |
probably damaging |
Het |
Arhgap32 |
C |
A |
9: 32,171,207 (GRCm39) |
T1329K |
probably damaging |
Het |
Arhgef10l |
G |
C |
4: 140,306,743 (GRCm39) |
L104V |
probably damaging |
Het |
Bend3 |
T |
C |
10: 43,386,500 (GRCm39) |
S298P |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,540,558 (GRCm39) |
V1385M |
probably damaging |
Het |
Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
Cd84 |
G |
A |
1: 171,713,148 (GRCm39) |
C291Y |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,863,457 (GRCm39) |
I113V |
probably benign |
Het |
Cfap206 |
G |
A |
4: 34,719,053 (GRCm39) |
Q318* |
probably null |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cyth1 |
T |
A |
11: 118,084,479 (GRCm39) |
I25F |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,216,279 (GRCm39) |
N1208K |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,609,832 (GRCm39) |
S203P |
probably damaging |
Het |
Ehbp1l1 |
G |
T |
19: 5,758,686 (GRCm39) |
T1652K |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,935,705 (GRCm39) |
|
probably null |
Het |
Fam3d |
T |
C |
14: 8,361,479 (GRCm38) |
I47V |
probably benign |
Het |
Gm10250 |
A |
G |
15: 5,150,296 (GRCm39) |
|
probably benign |
Het |
Gm9772 |
T |
C |
17: 22,225,618 (GRCm39) |
H94R |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,247,420 (GRCm39) |
G1184D |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,906,043 (GRCm39) |
D255V |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,932,064 (GRCm39) |
H1651R |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,167,464 (GRCm39) |
V385A |
possibly damaging |
Het |
Mmp1b |
G |
A |
9: 7,386,984 (GRCm39) |
S76L |
probably benign |
Het |
Mrps2 |
C |
A |
2: 28,358,327 (GRCm39) |
T39K |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,188,808 (GRCm39) |
Y715H |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,441,055 (GRCm39) |
E392G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,960,817 (GRCm39) |
E3374K |
probably damaging |
Het |
Or2a20 |
G |
A |
6: 43,194,437 (GRCm39) |
V197I |
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,215 (GRCm39) |
I89F |
probably benign |
Het |
Or56a4 |
A |
G |
7: 104,806,478 (GRCm39) |
V137A |
probably benign |
Het |
Or5w13 |
A |
T |
2: 87,524,073 (GRCm39) |
M51K |
probably benign |
Het |
Pkd2 |
C |
T |
5: 104,626,768 (GRCm39) |
P317S |
probably damaging |
Het |
Prl5a1 |
T |
C |
13: 28,329,488 (GRCm39) |
S56P |
probably damaging |
Het |
Psmd1 |
A |
G |
1: 86,009,823 (GRCm39) |
|
probably null |
Het |
Ptchd3 |
T |
C |
11: 121,733,305 (GRCm39) |
C732R |
probably damaging |
Het |
Rad51c |
A |
T |
11: 87,293,589 (GRCm39) |
V71E |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,621,560 (GRCm39) |
I619K |
possibly damaging |
Het |
Sgpp1 |
T |
G |
12: 75,763,284 (GRCm39) |
D299A |
probably damaging |
Het |
Slc16a4 |
C |
A |
3: 107,208,163 (GRCm39) |
Y224* |
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,378,175 (GRCm39) |
S167L |
probably damaging |
Het |
Slc6a5 |
T |
C |
7: 49,595,315 (GRCm39) |
I559T |
probably damaging |
Het |
Spire1 |
A |
G |
18: 67,636,536 (GRCm39) |
F364L |
probably damaging |
Het |
Srek1 |
G |
A |
13: 103,881,363 (GRCm39) |
T421I |
unknown |
Het |
St8sia4 |
T |
C |
1: 95,581,253 (GRCm39) |
H163R |
probably damaging |
Het |
Supt6 |
A |
G |
11: 78,104,087 (GRCm39) |
|
probably null |
Het |
Tas2r103 |
T |
C |
6: 133,013,560 (GRCm39) |
T169A |
probably benign |
Het |
V1rd19 |
C |
T |
7: 23,703,160 (GRCm39) |
L209F |
probably damaging |
Het |
Zfp267 |
T |
A |
3: 36,220,289 (GRCm39) |
S771T |
probably benign |
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 |
|
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 |
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'- TCAGGCGCTATCATTACAACTAAG -3'
(R):5'- GCCTCGGTTTCTGATCTGAG -3'
Sequencing Primer
(F):5'- CGCTATCATTACAACTAAGCTGCTGG -3'
(R):5'- TTCTGATCTGAGTCCCCGGGAG -3'
|
Posted On |
2014-09-18 |