Incidental Mutation 'R5265:Thrap3'
ID |
401637 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thrap3
|
Ensembl Gene |
ENSMUSG00000043962 |
Gene Name |
thyroid hormone receptor associated protein 3 |
Synonyms |
B230333E16Rik, Trap150, 9330151F09Rik |
MMRRC Submission |
042833-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R5265 (G1)
|
Quality Score |
212 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126057875-126096548 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126061433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 774
(S774P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080919]
[ENSMUST00000097891]
[ENSMUST00000163176]
|
AlphaFold |
Q569Z6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080919
AA Change: S774P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079722 Gene: ENSMUSG00000043962 AA Change: S774P
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: 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: ENSMUST00000154702
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163176
|
Predicted Effect |
unknown
Transcript: ENSMUST00000163459
AA Change: S64P
|
SMART Domains |
Protein: ENSMUSP00000129775 Gene: ENSMUSG00000043962 AA Change: S64P
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 |
0.0809 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,166,177 (GRCm39) |
W66R |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 90,009,411 (GRCm39) |
V84A |
possibly damaging |
Het |
Caap1 |
C |
A |
4: 94,389,465 (GRCm39) |
E290* |
probably null |
Het |
Cant1 |
G |
A |
11: 118,298,876 (GRCm39) |
R296C |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,869,371 (GRCm39) |
H699L |
probably benign |
Het |
Cfdp1 |
T |
C |
8: 112,557,617 (GRCm39) |
T175A |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Comtd1 |
G |
A |
14: 21,898,861 (GRCm39) |
T27I |
probably benign |
Het |
Copg1 |
T |
A |
6: 87,869,252 (GRCm39) |
V155D |
probably damaging |
Het |
Dag1 |
A |
G |
9: 108,084,898 (GRCm39) |
Y748H |
possibly damaging |
Het |
Dmwd |
T |
A |
7: 18,814,206 (GRCm39) |
N285K |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,379,159 (GRCm39) |
E1968G |
possibly damaging |
Het |
Ednra |
A |
G |
8: 78,394,004 (GRCm39) |
I364T |
probably damaging |
Het |
Elovl3 |
C |
A |
19: 46,123,120 (GRCm39) |
T232K |
probably damaging |
Het |
Ercc3 |
T |
A |
18: 32,387,296 (GRCm39) |
I503N |
probably damaging |
Het |
Ercc6 |
C |
A |
14: 32,291,580 (GRCm39) |
A1008D |
probably benign |
Het |
Gm10563 |
TTTC |
TTTCATTC |
4: 155,698,953 (GRCm39) |
|
probably null |
Het |
H2-DMb2 |
G |
T |
17: 34,367,536 (GRCm39) |
V117F |
probably damaging |
Het |
Helt |
A |
T |
8: 46,745,470 (GRCm39) |
W138R |
probably damaging |
Het |
Itga11 |
A |
T |
9: 62,644,694 (GRCm39) |
H215L |
probably benign |
Het |
Kcnn1 |
T |
A |
8: 71,307,297 (GRCm39) |
I156F |
probably benign |
Het |
Kdm1b |
A |
G |
13: 47,216,445 (GRCm39) |
N272D |
probably benign |
Het |
Kdm2b |
T |
C |
5: 123,016,651 (GRCm39) |
T1161A |
probably damaging |
Het |
Lin54 |
A |
G |
5: 100,633,378 (GRCm39) |
L102P |
probably damaging |
Het |
Mlh1 |
A |
C |
9: 111,100,591 (GRCm39) |
M1R |
probably null |
Het |
Naip2 |
G |
A |
13: 100,289,068 (GRCm39) |
L1165F |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,640,004 (GRCm39) |
S118P |
probably damaging |
Het |
Nkx3-2 |
T |
A |
5: 41,919,191 (GRCm39) |
M266L |
probably benign |
Het |
Npr1 |
T |
C |
3: 90,364,309 (GRCm39) |
E771G |
probably benign |
Het |
Obox8 |
C |
T |
7: 14,065,954 (GRCm39) |
R188H |
probably benign |
Het |
Odad1 |
T |
A |
7: 45,596,859 (GRCm39) |
D395E |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,506 (GRCm39) |
V198D |
possibly damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,609 (GRCm39) |
V277E |
possibly damaging |
Het |
Palm3 |
T |
C |
8: 84,748,159 (GRCm39) |
|
probably null |
Het |
Palmd |
A |
T |
3: 116,717,498 (GRCm39) |
V333D |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,306,988 (GRCm39) |
E1747G |
possibly damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,077 (GRCm39) |
F127I |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,019,248 (GRCm39) |
F97L |
possibly damaging |
Het |
Scaper |
A |
G |
9: 55,771,830 (GRCm39) |
V362A |
probably benign |
Het |
Scg5 |
A |
T |
2: 113,607,210 (GRCm39) |
L192* |
probably null |
Het |
Slc34a2 |
T |
C |
5: 53,218,776 (GRCm39) |
I198T |
probably damaging |
Het |
Slc45a3 |
T |
A |
1: 131,905,932 (GRCm39) |
D318E |
possibly damaging |
Het |
Sorl1 |
A |
G |
9: 42,017,812 (GRCm39) |
M105T |
possibly damaging |
Het |
St3gal5 |
T |
A |
6: 72,126,115 (GRCm39) |
I320N |
probably damaging |
Het |
Stx17 |
A |
G |
4: 48,183,470 (GRCm39) |
|
probably benign |
Het |
Syt5 |
C |
T |
7: 4,544,074 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,911,443 (GRCm39) |
M1376K |
probably benign |
Het |
Tnks1bp1 |
T |
A |
2: 84,893,098 (GRCm39) |
D1008E |
probably benign |
Het |
Trav7-1 |
G |
T |
14: 52,892,761 (GRCm39) |
A105S |
probably damaging |
Het |
Vmn1r28 |
T |
A |
6: 58,242,949 (GRCm39) |
V264D |
probably damaging |
Het |
Vmn1r44 |
T |
C |
6: 89,870,821 (GRCm39) |
V46A |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,143,586 (GRCm39) |
I788T |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,332 (GRCm39) |
I75N |
probably damaging |
Het |
Zfp821 |
T |
C |
8: 110,450,991 (GRCm39) |
M328T |
probably damaging |
Het |
Zfp995 |
G |
A |
17: 22,099,604 (GRCm39) |
P210L |
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 |
|
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 |
|
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'- CCTTACAAAGGTTCCCCGAG -3'
(R):5'- AGAGGAAACCCCAGGTCTAC -3'
Sequencing Primer
(F):5'- TACAAAGGTTCCCCGAGCTCTG -3'
(R):5'- TGGCTGACAGACCAGTCTTG -3'
|
Posted On |
2016-07-06 |