Incidental Mutation 'IGL02805:Thumpd3'
| ID |
360376 |
| 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 # |
IGL02805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
113023292-113045239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113043758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 391
(D391G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032398]
|
| AlphaFold |
P97770 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032398
AA Change: D391G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: D391G
| 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: ENSMUST00000124246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167415
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,113,959 (GRCm39) |
|
probably benign |
Het |
| Ankdd1b |
A |
G |
13: 96,580,810 (GRCm39) |
S163P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,456,038 (GRCm39) |
|
probably benign |
Het |
| Asb14 |
A |
G |
14: 26,623,144 (GRCm39) |
N172S |
possibly damaging |
Het |
| Avil |
G |
A |
10: 126,843,486 (GRCm39) |
V139I |
possibly damaging |
Het |
| C130073F10Rik |
A |
T |
4: 101,748,171 (GRCm39) |
M1K |
probably null |
Het |
| Ccdc33 |
T |
A |
9: 58,005,874 (GRCm39) |
I37F |
probably benign |
Het |
| Ccdc9 |
T |
C |
7: 16,009,199 (GRCm39) |
M550V |
probably benign |
Het |
| Cfap119 |
T |
C |
7: 127,185,566 (GRCm39) |
D121G |
possibly damaging |
Het |
| Cgn |
T |
A |
3: 94,681,687 (GRCm39) |
L469F |
probably damaging |
Het |
| Dnaaf3 |
C |
T |
7: 4,526,704 (GRCm39) |
G458R |
possibly damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,359,195 (GRCm39) |
N151K |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,790,046 (GRCm39) |
V163A |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,406 (GRCm39) |
|
probably benign |
Het |
| Fanca |
A |
T |
8: 124,016,233 (GRCm39) |
I670N |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,823,839 (GRCm39) |
V6524A |
probably benign |
Het |
| Gm10985 |
T |
C |
3: 53,752,514 (GRCm39) |
|
probably null |
Het |
| Gm1818 |
C |
T |
12: 48,602,518 (GRCm39) |
|
noncoding transcript |
Het |
| Hars2 |
C |
T |
18: 36,920,630 (GRCm39) |
R158* |
probably null |
Het |
| Htr5b |
A |
G |
1: 121,455,617 (GRCm39) |
V101A |
probably damaging |
Het |
| Ipp |
A |
G |
4: 116,386,885 (GRCm39) |
I356V |
possibly damaging |
Het |
| Itga8 |
T |
A |
2: 12,194,291 (GRCm39) |
N703I |
possibly damaging |
Het |
| Or8b3 |
T |
A |
9: 38,315,132 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,542,428 (GRCm39) |
N406D |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,600,411 (GRCm39) |
|
probably benign |
Het |
| Rgs7 |
T |
C |
1: 174,977,262 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,344,203 (GRCm39) |
T446A |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,892 (GRCm39) |
D1562G |
probably damaging |
Het |
| Scaf11 |
A |
T |
15: 96,318,063 (GRCm39) |
D500E |
possibly damaging |
Het |
| Spock1 |
A |
G |
13: 58,055,391 (GRCm39) |
I4T |
possibly damaging |
Het |
| Srebf2 |
C |
A |
15: 82,054,045 (GRCm39) |
N35K |
probably benign |
Het |
| Srgap3 |
G |
T |
6: 112,704,224 (GRCm39) |
H922N |
probably damaging |
Het |
| Stk32c |
A |
C |
7: 138,701,762 (GRCm39) |
H112Q |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,926,630 (GRCm39) |
E994G |
probably damaging |
Het |
| Vmn2r38 |
T |
A |
7: 9,078,546 (GRCm39) |
H612L |
probably damaging |
Het |
| Vsig10l |
T |
G |
7: 43,114,666 (GRCm39) |
I289S |
probably damaging |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zscan4d |
T |
G |
7: 10,898,897 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation