Incidental Mutation 'R1023:Thrap3'
| ID |
94605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thrap3
|
| Ensembl Gene |
ENSMUSG00000043962 |
| Gene Name |
thyroid hormone receptor associated protein 3 |
| Synonyms |
9330151F09Rik, B230333E16Rik, Trap150 |
| MMRRC Submission |
039125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R1023 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126164082-126202760 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126180089 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 288
(S288L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080919]
[ENSMUST00000106142]
[ENSMUST00000123008]
[ENSMUST00000136157]
[ENSMUST00000163306]
[ENSMUST00000169403]
|
| AlphaFold |
Q569Z6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080919
AA Change: S288L
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: S288L
| 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 |
possibly damaging
Transcript: ENSMUST00000106142
AA Change: S288L
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101748
Gene: ENSMUSG00000043962
AA Change: S288L
| 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 |
probably benign
Transcript: ENSMUST00000169403
|
| SMART Domains |
Protein: ENSMUSP00000125856
Gene: ENSMUSG00000043962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169855
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 138,066,871 (GRCm38) |
A607V |
probably damaging |
Het |
| 4930523C07Rik |
A |
G |
1: 160,077,487 (GRCm38) |
|
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,714,258 (GRCm38) |
L713Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 128,121,807 (GRCm38) |
T1010A |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 122,865,200 (GRCm38) |
I608T |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,039,286 (GRCm38) |
D40E |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 121,044,010 (GRCm38) |
G118R |
unknown |
Het |
| Cryge |
C |
A |
1: 65,050,786 (GRCm38) |
C79F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,730,985 (GRCm38) |
L596P |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,061,089 (GRCm38) |
C486Y |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,501,967 (GRCm38) |
Q445R |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 119,160,716 (GRCm38) |
|
probably benign |
Het |
| Gnpat |
A |
T |
8: 124,870,780 (GRCm38) |
D27V |
probably benign |
Het |
| Htr5a |
A |
T |
5: 27,842,998 (GRCm38) |
T184S |
possibly damaging |
Het |
| Lap3 |
C |
T |
5: 45,495,211 (GRCm38) |
P50S |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,310,907 (GRCm38) |
M589K |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,735,496 (GRCm38) |
S2263P |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,165,597 (GRCm38) |
P109L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,884,960 (GRCm38) |
F168L |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,659,460 (GRCm38) |
G42S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,234,706 (GRCm38) |
F1661I |
probably damaging |
Het |
| Or11h4b |
A |
T |
14: 50,681,016 (GRCm38) |
L206H |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 59,035,815 (GRCm38) |
N307K |
probably benign |
Het |
| Plac8 |
A |
T |
5: 100,556,581 (GRCm38) |
D83E |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,141,328 (GRCm38) |
|
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,875,140 (GRCm38) |
Q86K |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,558,943 (GRCm38) |
L1057P |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,832,639 (GRCm38) |
H2284R |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 140,224,463 (GRCm38) |
C484S |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 113,238,103 (GRCm38) |
S120A |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 108,007,573 (GRCm38) |
V270M |
probably damaging |
Het |
| Spata2 |
A |
G |
2: 167,485,222 (GRCm38) |
M85T |
probably benign |
Het |
| Taf1b |
G |
T |
12: 24,509,559 (GRCm38) |
|
probably benign |
Het |
| Tert |
A |
G |
13: 73,642,059 (GRCm38) |
N844S |
probably benign |
Het |
| Ubap2l |
A |
G |
3: 90,047,873 (GRCm38) |
|
probably benign |
Het |
| Ubtf |
T |
C |
11: 102,311,450 (GRCm38) |
E197G |
possibly damaging |
Het |
| Usp20 |
G |
T |
2: 31,007,813 (GRCm38) |
G216W |
probably damaging |
Het |
| Wdr60 |
T |
C |
12: 116,232,657 (GRCm38) |
E490G |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,793,531 (GRCm38) |
V40E |
unknown |
Het |
| Zfp335 |
G |
A |
2: 164,892,585 (GRCm38) |
H1254Y |
possibly damaging |
Het |
|
| Other mutations in Thrap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00639:Thrap3
|
APN |
4 |
126,165,578 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00654:Thrap3
|
APN |
4 |
126,165,578 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00763:Thrap3
|
APN |
4 |
126,165,578 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00907:Thrap3
|
APN |
4 |
126,165,578 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00990:Thrap3
|
APN |
4 |
126,165,395 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01722:Thrap3
|
APN |
4 |
126,165,529 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02487:Thrap3
|
APN |
4 |
126,167,001 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02802:Thrap3
|
UTSW |
4 |
126,165,364 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02837:Thrap3
|
UTSW |
4 |
126,165,364 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02988:Thrap3
|
UTSW |
4 |
126,165,542 (GRCm38) |
splice site |
probably null |
|
|
IGL03050:Thrap3
|
UTSW |
4 |
126,165,542 (GRCm38) |
splice site |
probably null |
|
|
IGL03055:Thrap3
|
UTSW |
4 |
126,165,542 (GRCm38) |
splice site |
probably null |
|
|
R0585:Thrap3
|
UTSW |
4 |
126,178,574 (GRCm38) |
splice site |
probably null |
|
|
R1237:Thrap3
|
UTSW |
4 |
126,180,069 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1445:Thrap3
|
UTSW |
4 |
126,176,336 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1601:Thrap3
|
UTSW |
4 |
126,180,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2058:Thrap3
|
UTSW |
4 |
126,180,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2063:Thrap3
|
UTSW |
4 |
126,175,396 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2064:Thrap3
|
UTSW |
4 |
126,175,396 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2065:Thrap3
|
UTSW |
4 |
126,175,396 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2066:Thrap3
|
UTSW |
4 |
126,175,396 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2067:Thrap3
|
UTSW |
4 |
126,175,396 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2098:Thrap3
|
UTSW |
4 |
126,180,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3791:Thrap3
|
UTSW |
4 |
126,167,500 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R4052:Thrap3
|
UTSW |
4 |
126,176,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4097:Thrap3
|
UTSW |
4 |
126,171,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4153:Thrap3
|
UTSW |
4 |
126,173,442 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4399:Thrap3
|
UTSW |
4 |
126,167,079 (GRCm38) |
splice site |
probably benign |
|
|
R5265:Thrap3
|
UTSW |
4 |
126,167,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5687:Thrap3
|
UTSW |
4 |
126,180,486 (GRCm38) |
unclassified |
probably benign |
|
|
R5993:Thrap3
|
UTSW |
4 |
126,175,460 (GRCm38) |
splice site |
probably null |
|
|
R6305:Thrap3
|
UTSW |
4 |
126,180,807 (GRCm38) |
unclassified |
probably benign |
|
|
R6917:Thrap3
|
UTSW |
4 |
126,180,492 (GRCm38) |
unclassified |
probably benign |
|
|
R7124:Thrap3
|
UTSW |
4 |
126,180,438 (GRCm38) |
missense |
unknown |
|
|
R7167:Thrap3
|
UTSW |
4 |
126,185,127 (GRCm38) |
intron |
probably benign |
|
|
R7227:Thrap3
|
UTSW |
4 |
126,173,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7343:Thrap3
|
UTSW |
4 |
126,178,430 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7695:Thrap3
|
UTSW |
4 |
126,180,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7889:Thrap3
|
UTSW |
4 |
126,178,062 (GRCm38) |
missense |
probably benign |
0.37 |
|
R7917:Thrap3
|
UTSW |
4 |
126,175,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8109:Thrap3
|
UTSW |
4 |
126,186,480 (GRCm38) |
missense |
unknown |
|
|
R9462:Thrap3
|
UTSW |
4 |
126,176,255 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAATATGCTGCCCCTCCCGAAG -3'
(R):5'- AACCACAGCAGAGTTGAGTCGTC -3'
Sequencing Primer
(F):5'- TCCCGAAGCAGCACTCTC -3'
(R):5'- TGAGTCGTCTAAGCGAAAGTCTAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation