Incidental Mutation 'IGL00579:Thumpd3'
| ID |
5393 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thumpd3
|
| Ensembl Gene |
ENSMUSG00000030264 |
| Gene Name |
THUMP domain containing 3 |
| Synonyms |
Gtrosa26as |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.375)
|
| Stock # |
IGL00579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
113023292-113045239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 113024622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 72
(R72H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032398]
[ENSMUST00000138278]
[ENSMUST00000155378]
[ENSMUST00000204866]
|
| AlphaFold |
P97770 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032398
AA Change: R72H
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: R72H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
|
THUMP
|
190 |
287 |
4.75e-12 |
SMART |
|
Pfam:UPF0020
|
294 |
480 |
1.2e-57 |
PFAM |
|
Pfam:Methyltransf_26
|
322 |
449 |
6.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137396
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138278
AA Change: R72H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155378
AA Change: R72H
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000120509
Gene: ENSMUSG00000030264
AA Change: R72H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
|
Blast:THUMP
|
190 |
222 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204866
AA Change: R72H
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205187
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,773,794 (GRCm39) |
E365G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,152,100 (GRCm39) |
Y197H |
probably benign |
Het |
| Cept1 |
A |
T |
3: 106,413,119 (GRCm39) |
V202E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,611 (GRCm39) |
K263* |
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,412,691 (GRCm39) |
I451T |
possibly damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,035,728 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
A |
3: 129,491,447 (GRCm39) |
H850L |
probably benign |
Het |
| Gm11595 |
T |
C |
11: 99,662,868 (GRCm39) |
T271A |
unknown |
Het |
| Gorab |
T |
C |
1: 163,222,256 (GRCm39) |
E142G |
probably damaging |
Het |
| Gpat4 |
A |
G |
8: 23,672,791 (GRCm39) |
S20P |
probably damaging |
Het |
| Gpr83 |
T |
C |
9: 14,771,897 (GRCm39) |
V23A |
probably benign |
Het |
| Il13ra2 |
A |
G |
X: 146,177,386 (GRCm39) |
Y146H |
probably damaging |
Het |
| Kcnj16 |
C |
T |
11: 110,916,034 (GRCm39) |
T232M |
probably benign |
Het |
| Mdfic |
A |
T |
6: 15,741,073 (GRCm39) |
I61F |
possibly damaging |
Het |
| Mmp3 |
G |
T |
9: 7,445,894 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,470,486 (GRCm39) |
R227K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,556,666 (GRCm39) |
I257F |
possibly damaging |
Het |
| Oxsr1 |
T |
A |
9: 119,088,277 (GRCm39) |
R43S |
probably damaging |
Het |
| Pacc1 |
T |
C |
1: 191,060,405 (GRCm39) |
V21A |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,103 (GRCm39) |
D382G |
probably damaging |
Het |
| Slc35b2 |
G |
T |
17: 45,875,886 (GRCm39) |
V81L |
probably damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,534 (GRCm39) |
T117I |
probably damaging |
Het |
| Vps13a |
T |
A |
19: 16,684,726 (GRCm39) |
T953S |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,320 (GRCm39) |
C311W |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,830 (GRCm39) |
T247A |
possibly damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,454 (GRCm39) |
V194D |
possibly damaging |
Het |
| Zfp639 |
A |
T |
3: 32,574,626 (GRCm39) |
E417V |
probably damaging |
Het |
|
| Other mutations in Thumpd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Thumpd3
|
APN |
6 |
113,037,021 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01525:Thumpd3
|
APN |
6 |
113,024,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01560:Thumpd3
|
APN |
6 |
113,040,120 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01734:Thumpd3
|
APN |
6 |
113,043,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01814:Thumpd3
|
APN |
6 |
113,040,112 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01901:Thumpd3
|
APN |
6 |
113,036,932 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01977:Thumpd3
|
APN |
6 |
113,036,927 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02697:Thumpd3
|
APN |
6 |
113,044,256 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02805:Thumpd3
|
APN |
6 |
113,043,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Thumpd3
|
UTSW |
6 |
113,036,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0139:Thumpd3
|
UTSW |
6 |
113,044,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0386:Thumpd3
|
UTSW |
6 |
113,042,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1975:Thumpd3
|
UTSW |
6 |
113,032,838 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2125:Thumpd3
|
UTSW |
6 |
113,043,749 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3709:Thumpd3
|
UTSW |
6 |
113,032,652 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5439:Thumpd3
|
UTSW |
6 |
113,043,825 (GRCm39) |
splice site |
silent |
|
|
R6074:Thumpd3
|
UTSW |
6 |
113,036,971 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6406:Thumpd3
|
UTSW |
6 |
113,032,924 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7411:Thumpd3
|
UTSW |
6 |
113,033,072 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7464:Thumpd3
|
UTSW |
6 |
113,032,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7465:Thumpd3
|
UTSW |
6 |
113,024,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Thumpd3
|
UTSW |
6 |
113,036,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8319:Thumpd3
|
UTSW |
6 |
113,040,107 (GRCm39) |
nonsense |
probably null |
|
|
R9268:Thumpd3
|
UTSW |
6 |
113,043,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Thumpd3
|
UTSW |
6 |
113,024,622 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
RF010:Thumpd3
|
UTSW |
6 |
113,033,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Thumpd3
|
UTSW |
6 |
113,032,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-04-20 |
Incidental Mutation