Incidental Mutation 'R5993:Thrap3'
| ID |
482117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thrap3
|
| Ensembl Gene |
ENSMUSG00000043962 |
| Gene Name |
thyroid hormone receptor associated protein 3 |
| Synonyms |
B230333E16Rik, Trap150, 9330151F09Rik |
| MMRRC Submission |
044172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R5993 (G1)
|
| Quality Score |
153.008 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126057875-126096548 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 126069253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080919]
[ENSMUST00000080919]
[ENSMUST00000080919]
[ENSMUST00000106142]
[ENSMUST00000106142]
[ENSMUST00000106142]
[ENSMUST00000163176]
[ENSMUST00000163306]
[ENSMUST00000163306]
[ENSMUST00000163306]
|
| AlphaFold |
Q569Z6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080919
|
| SMART Domains |
Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
| 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 null
Transcript: ENSMUST00000080919
|
| SMART Domains |
Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
| 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 null
Transcript: ENSMUST00000080919
|
| SMART Domains |
Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
| 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 null
Transcript: ENSMUST00000106142
|
| SMART Domains |
Protein: ENSMUSP00000101748
Gene: ENSMUSG00000043962
| 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 null
Transcript: ENSMUST00000106142
|
| SMART Domains |
Protein: ENSMUSP00000101748
Gene: ENSMUSG00000043962
| 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 null
Transcript: ENSMUST00000106142
|
| SMART Domains |
Protein: ENSMUSP00000101748
Gene: ENSMUSG00000043962
| 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 |
noncoding transcript
Transcript: ENSMUST00000151728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163176
|
| Predicted Effect |
probably null
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 null
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 null
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 null
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 |
probably null
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 |
probably null
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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,236,604 (GRCm39) |
N805K |
probably damaging |
Het |
| Add1 |
A |
C |
5: 34,758,877 (GRCm39) |
S64R |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,111,328 (GRCm39) |
F613L |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,487,531 (GRCm39) |
|
probably benign |
Het |
| Anks3 |
C |
T |
16: 4,776,001 (GRCm39) |
G67D |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,407,269 (GRCm39) |
T2052I |
probably benign |
Het |
| Atp8b4 |
C |
T |
2: 126,245,154 (GRCm39) |
V332I |
probably benign |
Het |
| Bin2 |
CGGAGCTGA |
C |
15: 100,542,901 (GRCm39) |
|
probably null |
Het |
| Bpifb3 |
T |
A |
2: 153,771,234 (GRCm39) |
M382K |
probably benign |
Het |
| Ccdc149 |
C |
T |
5: 52,560,117 (GRCm39) |
R246Q |
probably damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,550 (GRCm39) |
K462E |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,392,125 (GRCm39) |
T9A |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,000,799 (GRCm39) |
Y362H |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,412 (GRCm39) |
I998T |
probably damaging |
Het |
| Dclre1a |
A |
C |
19: 56,531,169 (GRCm39) |
Y726D |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,299,372 (GRCm39) |
V1578A |
probably benign |
Het |
| Dppa4 |
C |
T |
16: 48,109,709 (GRCm39) |
R110* |
probably null |
Het |
| Drc7 |
T |
A |
8: 95,800,820 (GRCm39) |
V614E |
probably benign |
Het |
| Garin2 |
C |
A |
12: 78,762,210 (GRCm39) |
N12K |
probably damaging |
Het |
| Gcc1 |
G |
A |
6: 28,424,851 (GRCm39) |
|
probably null |
Het |
| Greb1l |
G |
A |
18: 10,544,455 (GRCm39) |
D1350N |
probably benign |
Het |
| Kcnc1 |
G |
A |
7: 46,076,956 (GRCm39) |
V253M |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,884 (GRCm39) |
I323F |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,978,324 (GRCm39) |
V320A |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,454,161 (GRCm39) |
F112Y |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,310,138 (GRCm39) |
T800A |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,330,880 (GRCm39) |
A1197E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,220 (GRCm39) |
H39Q |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,120,982 (GRCm39) |
T588I |
probably benign |
Het |
| Oxld1 |
A |
G |
11: 120,347,835 (GRCm39) |
S121P |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,855,273 (GRCm39) |
K444E |
possibly damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,436 (GRCm39) |
D3V |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,876,296 (GRCm39) |
T1052A |
probably benign |
Het |
| Rhot2 |
T |
A |
17: 26,060,085 (GRCm39) |
T299S |
probably benign |
Het |
| Rhov |
A |
G |
2: 119,100,533 (GRCm39) |
F235L |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,841,863 (GRCm39) |
R158S |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,875,490 (GRCm39) |
E431D |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,274,307 (GRCm39) |
E186G |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,466,572 (GRCm39) |
L158H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,280,946 (GRCm39) |
T40A |
probably benign |
Het |
| Shroom3 |
A |
T |
5: 93,088,047 (GRCm39) |
S185C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,666,276 (GRCm39) |
V1183D |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,739,732 (GRCm39) |
V3405A |
probably benign |
Het |
| Supt16 |
C |
A |
14: 52,415,791 (GRCm39) |
R357L |
probably damaging |
Het |
| Topaz1 |
T |
C |
9: 122,578,104 (GRCm39) |
L338S |
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,374,992 (GRCm39) |
Y139* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,626,251 (GRCm39) |
D6641A |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,743,163 (GRCm39) |
D886G |
probably benign |
Het |
| Zc3h7a |
T |
A |
16: 10,968,526 (GRCm39) |
K484N |
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 |
|
|
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'- CAAGGCGAGTTTAGTATCAGATGAC -3'
(R):5'- TATACCCCAAACCGAGGTGAG -3'
Sequencing Primer
(F):5'- GACAAGAGTTTTATCACAGGCTG -3'
(R):5'- TCATGTTCCTAAGATACGGGAGC -3'
|
| Posted On |
2017-06-27 |
Incidental Mutation