Incidental Mutation 'IGL01750:Thumpd2'
| ID |
153100 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thumpd2
|
| Ensembl Gene |
ENSMUSG00000024246 |
| Gene Name |
THUMP domain containing 2 |
| Synonyms |
2810025A12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL01750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
81333761-81372511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81361815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 137
(A137V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025093]
|
| AlphaFold |
Q9CZB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025093
AA Change: A137V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000025093
Gene: ENSMUSG00000024246
AA Change: A137V
| Domain | Start | End | E-Value | Type |
|---|
|
THUMP
|
175 |
266 |
4.08e-2 |
SMART |
|
Pfam:UPF0020
|
272 |
425 |
3e-27 |
PFAM |
|
Pfam:CMAS
|
284 |
429 |
3e-7 |
PFAM |
|
Pfam:Ubie_methyltran
|
285 |
417 |
3e-10 |
PFAM |
|
Pfam:MTS
|
289 |
417 |
2.1e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
296 |
441 |
7.8e-14 |
PFAM |
|
Pfam:Methyltransf_11
|
303 |
406 |
1.9e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,742,030 (GRCm39) |
R616G |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,544,407 (GRCm39) |
P1260S |
probably damaging |
Het |
| Ccz1 |
A |
T |
5: 143,940,880 (GRCm39) |
Y225N |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,303,897 (GRCm39) |
P1101S |
probably damaging |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,570 (GRCm39) |
H97L |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,508 (GRCm39) |
S511F |
probably damaging |
Het |
| Fnbp1l |
G |
T |
3: 122,338,326 (GRCm39) |
Y351* |
probably null |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Hrob |
T |
C |
11: 102,145,777 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,049 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,627,177 (GRCm39) |
N123S |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,048,064 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,922,465 (GRCm39) |
E6558G |
probably damaging |
Het |
| Or2j6 |
T |
C |
7: 139,980,570 (GRCm39) |
T130A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
| Pitx1 |
A |
G |
13: 55,974,304 (GRCm39) |
Y176H |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,589 (GRCm39) |
V4116A |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,575,680 (GRCm39) |
V617A |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,060,268 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
G |
A |
5: 120,256,857 (GRCm39) |
A57T |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,102,064 (GRCm39) |
I134T |
possibly damaging |
Het |
| Tle4 |
T |
C |
19: 14,427,153 (GRCm39) |
Y756C |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,435 (GRCm39) |
L986P |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,540,023 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Zfp474 |
A |
G |
18: 52,772,349 (GRCm39) |
N334S |
possibly damaging |
Het |
|
| Other mutations in Thumpd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02409:Thumpd2
|
APN |
17 |
81,340,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02546:Thumpd2
|
APN |
17 |
81,361,884 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03357:Thumpd2
|
APN |
17 |
81,351,519 (GRCm39) |
splice site |
probably benign |
|
|
R1295:Thumpd2
|
UTSW |
17 |
81,363,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Thumpd2
|
UTSW |
17 |
81,372,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Thumpd2
|
UTSW |
17 |
81,351,557 (GRCm39) |
nonsense |
probably null |
|
|
R4805:Thumpd2
|
UTSW |
17 |
81,334,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4861:Thumpd2
|
UTSW |
17 |
81,334,230 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4861:Thumpd2
|
UTSW |
17 |
81,334,230 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5328:Thumpd2
|
UTSW |
17 |
81,351,591 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5359:Thumpd2
|
UTSW |
17 |
81,334,206 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6207:Thumpd2
|
UTSW |
17 |
81,363,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Thumpd2
|
UTSW |
17 |
81,360,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6484:Thumpd2
|
UTSW |
17 |
81,361,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6853:Thumpd2
|
UTSW |
17 |
81,372,459 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6855:Thumpd2
|
UTSW |
17 |
81,351,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Thumpd2
|
UTSW |
17 |
81,351,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7018:Thumpd2
|
UTSW |
17 |
81,363,326 (GRCm39) |
nonsense |
probably null |
|
|
R7916:Thumpd2
|
UTSW |
17 |
81,334,116 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7957:Thumpd2
|
UTSW |
17 |
81,334,157 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8422:Thumpd2
|
UTSW |
17 |
81,334,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Thumpd2
|
UTSW |
17 |
81,334,040 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9727:Thumpd2
|
UTSW |
17 |
81,345,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation