Incidental Mutation 'IGL01560:Thumpd3'
| ID |
90818 |
| 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: 0.297)
|
| Stock # |
IGL01560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
113023292-113045239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113040120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 335
(I335V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032398]
|
| AlphaFold |
P97770 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032398
AA Change: I335V
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: I335V
| 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: ENSMUST00000104243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204786
|
| 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 |
|---|
| Arhgap28 |
A |
T |
17: 68,203,066 (GRCm39) |
I129N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,944,106 (GRCm39) |
I266V |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,726,897 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,821,163 (GRCm39) |
V1118I |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,491,792 (GRCm38) |
V791D |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,783,495 (GRCm39) |
D78G |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,774,643 (GRCm39) |
Y271* |
probably null |
Het |
| Flnb |
T |
G |
14: 7,893,829 (GRCm38) |
I714S |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,037 (GRCm39) |
M515T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,547 (GRCm39) |
F1288Y |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,659,191 (GRCm39) |
I1868V |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,967 (GRCm39) |
D561G |
probably null |
Het |
| Mypn |
A |
T |
10: 62,970,743 (GRCm39) |
V887E |
probably benign |
Het |
| Or4c118 |
C |
T |
2: 88,974,947 (GRCm39) |
C140Y |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,467 (GRCm39) |
M158L |
probably benign |
Het |
| Or7g28 |
T |
C |
9: 19,271,842 (GRCm39) |
T270A |
probably benign |
Het |
| Osbpl5 |
C |
A |
7: 143,269,430 (GRCm39) |
E49* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,381,232 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Six6 |
T |
A |
12: 72,986,831 (GRCm39) |
M1K |
probably null |
Het |
| Slc13a4 |
A |
G |
6: 35,248,538 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,058,612 (GRCm39) |
I22N |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 130,145,918 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,602,016 (GRCm39) |
T18549A |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,399,698 (GRCm39) |
P270Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,105,352 (GRCm39) |
Y158* |
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,857,211 (GRCm39) |
E148V |
probably 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 |
|
IGL01525:Thumpd3
|
APN |
6 |
113,024,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation