Incidental Mutation 'R7227:Thrap3'
ID |
562214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thrap3
|
Ensembl Gene |
ENSMUSG00000043962 |
Gene Name |
thyroid hormone receptor associated protein 3 |
Synonyms |
B230333E16Rik, Trap150, 9330151F09Rik |
MMRRC Submission |
045299-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R7227 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126057875-126096548 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126067296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 683
(F683I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080919]
[ENSMUST00000106142]
[ENSMUST00000163176]
[ENSMUST00000163306]
|
AlphaFold |
Q569Z6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080919
AA Change: F683I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079722 Gene: ENSMUSG00000043962 AA Change: F683I
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: F683I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101748 Gene: ENSMUSG00000043962 AA Change: F683I
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 |
unknown
Transcript: ENSMUST00000163176
AA Change: F9I
|
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 |
|
Meta Mutation Damage Score |
0.1330 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
97% (57/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
T |
7: 130,952,449 (GRCm39) |
L344H |
probably damaging |
Het |
Abcb1b |
T |
A |
5: 8,875,593 (GRCm39) |
S589T |
probably damaging |
Het |
Acsm2 |
A |
C |
7: 119,190,556 (GRCm39) |
I520L |
probably benign |
Het |
Ap2a2 |
T |
C |
7: 141,200,784 (GRCm39) |
Y544H |
probably damaging |
Het |
Ascc1 |
T |
A |
10: 59,843,560 (GRCm39) |
Y41N |
probably benign |
Het |
Bend3 |
T |
A |
10: 43,387,401 (GRCm39) |
L598Q |
probably damaging |
Het |
Cfap74 |
T |
G |
4: 155,545,405 (GRCm39) |
Y1108* |
probably null |
Het |
Cxcl17 |
C |
A |
7: 25,102,319 (GRCm39) |
R41S |
probably damaging |
Het |
Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,312,222 (GRCm39) |
Y4370H |
probably damaging |
Het |
Dzip3 |
T |
A |
16: 48,771,932 (GRCm39) |
Q579L |
probably damaging |
Het |
Enpp3 |
C |
T |
10: 24,693,742 (GRCm39) |
M195I |
unknown |
Het |
Esyt2 |
A |
G |
12: 116,305,745 (GRCm39) |
D325G |
probably damaging |
Het |
Fat1 |
T |
G |
8: 45,463,646 (GRCm39) |
I1396S |
probably benign |
Het |
Gigyf1 |
T |
A |
5: 137,522,085 (GRCm39) |
I661K |
unknown |
Het |
Gja1 |
T |
A |
10: 56,263,752 (GRCm39) |
L37Q |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,310,387 (GRCm39) |
S876P |
probably benign |
Het |
Hk3 |
C |
T |
13: 55,160,053 (GRCm39) |
R362H |
probably benign |
Het |
Ier3ip1 |
T |
A |
18: 77,027,330 (GRCm39) |
M53K |
probably benign |
Het |
Klhl5 |
T |
C |
5: 65,298,631 (GRCm39) |
S137P |
probably benign |
Het |
Kremen2 |
G |
T |
17: 23,963,573 (GRCm39) |
Y70* |
probably null |
Het |
Lag3 |
C |
T |
6: 124,885,457 (GRCm39) |
G308S |
possibly damaging |
Het |
Mab21l4 |
G |
T |
1: 93,079,736 (GRCm39) |
N451K |
probably benign |
Het |
Map4k2 |
T |
A |
19: 6,396,624 (GRCm39) |
L542Q |
probably damaging |
Het |
Mef2d |
G |
A |
3: 88,065,514 (GRCm39) |
|
probably null |
Het |
Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
Mpp3 |
T |
A |
11: 101,895,904 (GRCm39) |
Y457F |
possibly damaging |
Het |
Mrpl12 |
T |
A |
11: 120,379,178 (GRCm39) |
I175N |
probably damaging |
Het |
Mybbp1a |
G |
T |
11: 72,338,585 (GRCm39) |
K728N |
possibly damaging |
Het |
Nfkb1 |
C |
T |
3: 135,332,420 (GRCm39) |
V112M |
probably damaging |
Het |
Nucb2 |
A |
T |
7: 116,125,311 (GRCm39) |
D123V |
probably damaging |
Het |
Or12j2 |
A |
G |
7: 139,915,534 (GRCm39) |
|
probably benign |
Het |
Orc3 |
T |
C |
4: 34,572,542 (GRCm39) |
T629A |
probably benign |
Het |
Pdk1 |
T |
A |
2: 71,714,245 (GRCm39) |
N218K |
possibly damaging |
Het |
Plce1 |
A |
G |
19: 38,715,346 (GRCm39) |
T1298A |
probably benign |
Het |
Ppan |
T |
A |
9: 20,799,496 (GRCm39) |
|
probably benign |
Het |
Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
Scn2a |
A |
C |
2: 65,582,367 (GRCm39) |
I1572L |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,328,935 (GRCm39) |
Y1027N |
probably benign |
Het |
Serpinb3a |
T |
A |
1: 106,979,359 (GRCm39) |
T48S |
probably damaging |
Het |
Slc30a8 |
A |
G |
15: 52,195,032 (GRCm39) |
M264V |
probably benign |
Het |
Slc44a3 |
A |
T |
3: 121,303,879 (GRCm39) |
C286S |
possibly damaging |
Het |
Slc8a2 |
T |
C |
7: 15,878,906 (GRCm39) |
I464T |
possibly damaging |
Het |
Smco1 |
T |
C |
16: 32,092,833 (GRCm39) |
M168T |
possibly damaging |
Het |
Spns2 |
A |
T |
11: 72,349,513 (GRCm39) |
Y246* |
probably null |
Het |
Ssbp2 |
T |
C |
13: 91,823,244 (GRCm39) |
M213T |
probably benign |
Het |
Stk40 |
G |
T |
4: 126,017,559 (GRCm39) |
A29S |
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,269,889 (GRCm39) |
T880A |
possibly damaging |
Het |
Trim38 |
T |
A |
13: 23,969,946 (GRCm39) |
N168K |
possibly damaging |
Het |
Ube2d1 |
T |
A |
10: 71,091,702 (GRCm39) |
Y134F |
possibly damaging |
Het |
Vmn1r67 |
T |
A |
7: 10,181,475 (GRCm39) |
Y246* |
probably null |
Het |
Vmn2r18 |
T |
C |
5: 151,496,264 (GRCm39) |
T485A |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,738,974 (GRCm39) |
I1285F |
probably damaging |
Het |
Xrcc1 |
C |
A |
7: 24,246,757 (GRCm39) |
H8Q |
probably damaging |
Het |
Zkscan4 |
T |
C |
13: 21,668,413 (GRCm39) |
V317A |
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 |
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 |
|
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'- ACCACTTCACAAAGGTTGTTGATAC -3'
(R):5'- AAGTGCATGCTAGGCTACAC -3'
Sequencing Primer
(F):5'- GTTCATTTTTAGAATTATGCCCATCC -3'
(R):5'- GTGCATGCTAGGCTACACACTTAATC -3'
|
Posted On |
2019-06-26 |