Incidental Mutation 'IGL01901:Thumpd3'
ID |
179532 |
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 # |
IGL01901
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113023292-113045239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113036932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 277
(H277R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032398]
[ENSMUST00000155378]
|
AlphaFold |
P97770 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032398
AA Change: H277R
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000032398 Gene: ENSMUSG00000030264 AA Change: H277R
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: ENSMUST00000137396
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155378
|
SMART Domains |
Protein: ENSMUSP00000120509 Gene: ENSMUSG00000030264
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 |
noncoding transcript
Transcript: ENSMUST00000204786
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
G |
14: 66,272,678 (GRCm39) |
|
probably benign |
Het |
Aldh1a7 |
T |
G |
19: 20,695,103 (GRCm39) |
Y154S |
probably damaging |
Het |
Casc3 |
A |
G |
11: 98,713,947 (GRCm39) |
D393G |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,842,936 (GRCm39) |
I661V |
probably benign |
Het |
Cdh1 |
T |
C |
8: 107,384,392 (GRCm39) |
S287P |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,952,321 (GRCm39) |
N6S |
probably damaging |
Het |
Cstdc6 |
C |
A |
16: 36,154,625 (GRCm39) |
A11S |
probably damaging |
Het |
Cyp17a1 |
C |
T |
19: 46,659,531 (GRCm39) |
V100M |
possibly damaging |
Het |
Ddhd2 |
A |
G |
8: 26,238,621 (GRCm39) |
V53A |
probably damaging |
Het |
Elovl7 |
T |
A |
13: 108,410,927 (GRCm39) |
|
probably null |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm14180 |
A |
G |
11: 99,625,053 (GRCm39) |
S22P |
unknown |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Golga5 |
G |
A |
12: 102,446,061 (GRCm39) |
|
probably null |
Het |
Gpr162 |
A |
T |
6: 124,838,370 (GRCm39) |
F93L |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,201,148 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,492,169 (GRCm39) |
F358L |
probably damaging |
Het |
Mdn1 |
T |
G |
4: 32,669,591 (GRCm39) |
D409E |
probably damaging |
Het |
Ms4a10 |
T |
C |
19: 10,940,374 (GRCm39) |
D211G |
probably benign |
Het |
Ms4a3 |
T |
C |
19: 11,616,630 (GRCm39) |
E4G |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,418,260 (GRCm39) |
|
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,752 (GRCm39) |
V281A |
possibly damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,826 (GRCm39) |
I219V |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,177 (GRCm39) |
L88Q |
probably damaging |
Het |
Or51q1c |
A |
G |
7: 103,653,274 (GRCm39) |
H264R |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,896,947 (GRCm39) |
H242R |
probably damaging |
Het |
Or6c217 |
A |
G |
10: 129,737,722 (GRCm39) |
F286L |
probably benign |
Het |
Penk |
T |
C |
4: 4,134,465 (GRCm39) |
I61V |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,290,307 (GRCm39) |
K2860N |
probably benign |
Het |
Prtg |
C |
T |
9: 72,762,348 (GRCm39) |
P492S |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,721,665 (GRCm39) |
F1172L |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,225 (GRCm39) |
|
probably benign |
Het |
Terf2ip |
A |
G |
8: 112,738,700 (GRCm39) |
N196S |
probably benign |
Het |
Tgtp1 |
T |
C |
11: 48,878,382 (GRCm39) |
N108D |
possibly damaging |
Het |
Tshz2 |
T |
A |
2: 169,727,456 (GRCm39) |
L215Q |
possibly damaging |
Het |
Ube3c |
T |
A |
5: 29,873,005 (GRCm39) |
V1015E |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,516,672 (GRCm39) |
K2307N |
probably damaging |
Het |
Vmn1r75 |
A |
G |
7: 11,614,739 (GRCm39) |
Y157C |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
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 |
2014-05-07 |