Incidental Mutation 'R7917:Thrap3'
| ID |
648135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thrap3
|
| Ensembl Gene |
ENSMUSG00000043962 |
| Gene Name |
thyroid hormone receptor associated protein 3 |
| Synonyms |
B230333E16Rik, Trap150, 9330151F09Rik |
| MMRRC Submission |
045965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R7917 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126057875-126096548 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126069213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 646
(T646I)
|
| 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: T646I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: T646I
| 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: T646I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101748
Gene: ENSMUSG00000043962
AA Change: T646I
| 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: ENSMUST00000163176
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000126399
Gene: ENSMUSG00000043962
AA Change: T118I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THRAP3_BCLAF1
|
49 |
136 |
1.2e-52 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962
AA Change: T9I
| 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 |
0.7460 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
T |
11: 109,958,933 (GRCm39) |
H730Q |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,408 (GRCm39) |
D506G |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,823,190 (GRCm39) |
M1T |
probably null |
Het |
| Ccnc |
T |
A |
4: 21,748,158 (GRCm39) |
N273K |
possibly damaging |
Het |
| Cfdp1 |
C |
A |
8: 112,567,033 (GRCm39) |
V159L |
possibly damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,334,638 (GRCm39) |
|
probably benign |
Het |
| Dsp |
C |
T |
13: 38,351,615 (GRCm39) |
Q145* |
probably null |
Het |
| Exosc9 |
G |
A |
3: 36,607,968 (GRCm39) |
V59I |
probably damaging |
Het |
| Fermt2 |
C |
G |
14: 45,699,318 (GRCm39) |
R592T |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,211,875 (GRCm39) |
S2381P |
probably damaging |
Het |
| Fscn2 |
G |
A |
11: 120,258,082 (GRCm39) |
E335K |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
| Hdac9 |
T |
A |
12: 34,483,209 (GRCm39) |
I93L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,899,706 (GRCm39) |
D535G |
probably damaging |
Het |
| Ighv1-4 |
A |
T |
12: 114,451,165 (GRCm39) |
F9I |
possibly damaging |
Het |
| Il3ra |
T |
A |
14: 14,350,773 (GRCm38) |
H262Q |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mtg1 |
A |
T |
7: 139,727,178 (GRCm39) |
D227V |
probably damaging |
Het |
| Nrcam |
T |
G |
12: 44,620,546 (GRCm39) |
|
probably null |
Het |
| Or13g1 |
T |
C |
7: 85,955,686 (GRCm39) |
T212A |
probably damaging |
Het |
| Or4f57 |
A |
C |
2: 111,791,310 (GRCm39) |
V36G |
probably damaging |
Het |
| Or8b1 |
T |
A |
9: 38,399,905 (GRCm39) |
Y193* |
probably null |
Het |
| Pcdha1 |
T |
A |
18: 37,065,254 (GRCm39) |
D639E |
possibly damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,669 (GRCm39) |
V575E |
possibly damaging |
Het |
| Pcif1 |
G |
T |
2: 164,730,392 (GRCm39) |
R375L |
probably benign |
Het |
| Pcna |
A |
T |
2: 132,094,929 (GRCm39) |
S10T |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,333,518 (GRCm39) |
S168P |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,885,650 (GRCm39) |
D1842E |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,040 (GRCm39) |
N117Y |
probably damaging |
Het |
| Scnn1g |
T |
C |
7: 121,342,916 (GRCm39) |
Y290H |
probably damaging |
Het |
| Sri |
T |
C |
5: 8,113,409 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,708,372 (GRCm39) |
V361A |
possibly damaging |
Het |
| Terf1 |
T |
A |
1: 15,889,300 (GRCm39) |
L243Q |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 821,274 (GRCm39) |
I86V |
probably benign |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,727 (GRCm39) |
S720P |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,421 (GRCm39) |
N879D |
possibly damaging |
Het |
| Zfp266 |
T |
C |
9: 20,416,423 (GRCm39) |
T56A |
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,358,991 (GRCm39) |
I541N |
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 |
|
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 |
|
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'- TAGGATCCAAAGTGCGTTAGAG -3'
(R):5'- CCAGGGTCTTTGTCCTGGTATC -3'
Sequencing Primer
(F):5'- TCCAAAGTGCGTTAGAGAACTC -3'
(R):5'- TCATGTTCCTAAGATACGGGAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation