Incidental Mutation 'R4861:Thumpd2'
| ID |
380268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thumpd2
|
| Ensembl Gene |
ENSMUSG00000024246 |
| Gene Name |
THUMP domain containing 2 |
| Synonyms |
2810025A12Rik |
| MMRRC Submission |
042472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4861 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
81333761-81372511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81334230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 453
(S453P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025093]
|
| AlphaFold |
Q9CZB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025093
AA Change: S453P
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000025093
Gene: ENSMUSG00000024246
AA Change: S453P
| 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 |
|
| Meta Mutation Damage Score |
0.1221 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.2%
- 20x: 84.7%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
| Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
| Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
| Cept1 |
A |
C |
3: 106,413,048 (GRCm39) |
S226A |
probably damaging |
Het |
| Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
| Frmd6 |
T |
G |
12: 70,940,500 (GRCm39) |
S382A |
probably damaging |
Het |
| Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
| Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
| Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
| Ice2 |
T |
A |
9: 69,322,730 (GRCm39) |
S408R |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,027,045 (GRCm39) |
I131T |
possibly damaging |
Het |
| Mvk |
C |
T |
5: 114,598,258 (GRCm39) |
|
probably benign |
Het |
| Mzt1 |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
Het |
| Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
| Npy4r |
C |
T |
14: 33,868,840 (GRCm39) |
W149* |
probably null |
Het |
| Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
| Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,152,322 (GRCm39) |
Q51R |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
| Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
| Tas2r117 |
T |
C |
6: 132,780,092 (GRCm39) |
F77L |
probably benign |
Het |
| Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
| Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
probably benign |
Het |
|
| Other mutations in Thumpd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01750:Thumpd2
|
APN |
17 |
81,361,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATGGCATTCAGCTGAGG -3'
(R):5'- CGTTGTCTCGGAACATAGAAACC -3'
Sequencing Primer
(F):5'- TGGCATTCAGCTGAGGACAGTC -3'
(R):5'- TGTCTCGGAACATAGAAACCCTCATC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation