Incidental Mutation 'IGL01525:Thumpd3'
ID |
89548 |
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 # |
IGL01525
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113023292-113045239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113024597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 64
(S64P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032398]
[ENSMUST00000138278]
[ENSMUST00000155378]
[ENSMUST00000204866]
|
AlphaFold |
P97770 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032398
AA Change: S64P
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000032398 Gene: ENSMUSG00000030264 AA Change: S64P
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: S64P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152795
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155378
AA Change: S64P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120509 Gene: ENSMUSG00000030264 AA Change: S64P
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 damaging
Transcript: ENSMUST00000204866
AA Change: S64P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205187
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
A |
G |
15: 74,458,684 (GRCm39) |
E322G |
probably damaging |
Het |
Aldh8a1 |
A |
T |
10: 21,267,472 (GRCm39) |
I286F |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,924,616 (GRCm39) |
T404S |
possibly damaging |
Het |
Asb1 |
A |
G |
1: 91,479,846 (GRCm39) |
T190A |
probably damaging |
Het |
Atp8b1 |
G |
A |
18: 64,672,323 (GRCm39) |
R1014* |
probably null |
Het |
Dgcr8 |
T |
C |
16: 18,101,808 (GRCm39) |
D158G |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,043,169 (GRCm39) |
|
probably benign |
Het |
Fras1 |
C |
T |
5: 96,887,195 (GRCm39) |
T2659I |
probably damaging |
Het |
Galt |
A |
G |
4: 41,756,068 (GRCm39) |
T45A |
probably benign |
Het |
Gtpbp3 |
A |
G |
8: 71,943,078 (GRCm39) |
D164G |
probably damaging |
Het |
Ift70b |
A |
T |
2: 75,767,226 (GRCm39) |
M509K |
probably damaging |
Het |
Kmt2c |
T |
A |
5: 25,534,439 (GRCm39) |
|
probably benign |
Het |
Lrrc59 |
A |
T |
11: 94,525,522 (GRCm39) |
Q106L |
probably damaging |
Het |
Mgat4c |
A |
G |
10: 102,214,057 (GRCm39) |
I13M |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,770,877 (GRCm39) |
|
noncoding transcript |
Het |
Myo5b |
C |
T |
18: 74,873,620 (GRCm39) |
A1508V |
probably damaging |
Het |
Or2o1 |
A |
G |
11: 49,051,501 (GRCm39) |
Y220C |
probably damaging |
Het |
Or52ad1 |
T |
A |
7: 102,995,386 (GRCm39) |
I250F |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,980,221 (GRCm39) |
I47M |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,394,619 (GRCm39) |
E500G |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,759,936 (GRCm39) |
|
probably benign |
Het |
S100a8 |
A |
T |
3: 90,576,876 (GRCm39) |
S10C |
probably damaging |
Het |
Sdk1 |
T |
C |
5: 141,985,675 (GRCm39) |
V769A |
probably damaging |
Het |
Sorbs1 |
G |
T |
19: 40,338,422 (GRCm39) |
T326K |
probably damaging |
Het |
Spata31d1b |
T |
C |
13: 59,860,280 (GRCm39) |
I51T |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,332,197 (GRCm39) |
L843P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,108 (GRCm39) |
I13587N |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,945,908 (GRCm39) |
S90P |
possibly damaging |
Het |
|
Other mutations in Thumpd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00579:Thumpd3
|
APN |
6 |
113,024,622 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01113:Thumpd3
|
APN |
6 |
113,037,021 (GRCm39) |
missense |
probably benign |
0.36 |
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 |
2013-12-03 |