Incidental Mutation 'R6625:Thap12'
| ID |
524728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thap12
|
| Ensembl Gene |
ENSMUSG00000030753 |
| Gene Name |
THAP domain containing 12 |
| Synonyms |
2900052B10Rik, Dap4, Prkrir |
| MMRRC Submission |
044747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98352310-98367269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98365277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 482
(V482I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033009]
[ENSMUST00000126356]
[ENSMUST00000153566]
|
| AlphaFold |
Q9CUX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033009
AA Change: V482I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: V482I
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
92 |
8.38e-22 |
SMART |
|
DM3
|
21 |
91 |
1.49e-20 |
SMART |
|
Pfam:DUF4371
|
112 |
338 |
1.9e-22 |
PFAM |
|
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
|
Pfam:Dimer_Tnp_hAT
|
631 |
726 |
6.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126356
|
| SMART Domains |
Protein: ENSMUSP00000118403
Gene: ENSMUSG00000030753
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
78 |
3.21e-9 |
SMART |
|
DM3
|
21 |
78 |
1.89e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146473
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153566
|
| SMART Domains |
Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
92 |
8.38e-22 |
SMART |
|
DM3
|
21 |
91 |
1.49e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208543
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
91% (30/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
| Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
| Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
| Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
| G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
| Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
| Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
| Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
| Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
| Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
| Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
| Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
| Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
probably damaging |
Het |
|
| Other mutations in Thap12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Thap12
|
APN |
7 |
98,365,344 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01145:Thap12
|
APN |
7 |
98,362,110 (GRCm39) |
makesense |
probably null |
|
|
IGL01973:Thap12
|
APN |
7 |
98,365,706 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02404:Thap12
|
APN |
7 |
98,359,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Thap12
|
UTSW |
7 |
98,364,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4453001:Thap12
|
UTSW |
7 |
98,364,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0090:Thap12
|
UTSW |
7 |
98,365,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Thap12
|
UTSW |
7 |
98,364,488 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1344:Thap12
|
UTSW |
7 |
98,366,037 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1384:Thap12
|
UTSW |
7 |
98,352,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1418:Thap12
|
UTSW |
7 |
98,366,037 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1448:Thap12
|
UTSW |
7 |
98,365,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1493:Thap12
|
UTSW |
7 |
98,364,645 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1906:Thap12
|
UTSW |
7 |
98,365,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Thap12
|
UTSW |
7 |
98,366,045 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1992:Thap12
|
UTSW |
7 |
98,365,572 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2044:Thap12
|
UTSW |
7 |
98,365,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2092:Thap12
|
UTSW |
7 |
98,365,656 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2160:Thap12
|
UTSW |
7 |
98,359,333 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3850:Thap12
|
UTSW |
7 |
98,365,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4086:Thap12
|
UTSW |
7 |
98,365,701 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4162:Thap12
|
UTSW |
7 |
98,359,285 (GRCm39) |
intron |
probably benign |
|
|
R4554:Thap12
|
UTSW |
7 |
98,365,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4555:Thap12
|
UTSW |
7 |
98,365,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4556:Thap12
|
UTSW |
7 |
98,365,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4557:Thap12
|
UTSW |
7 |
98,365,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4659:Thap12
|
UTSW |
7 |
98,359,298 (GRCm39) |
intron |
probably benign |
|
|
R4734:Thap12
|
UTSW |
7 |
98,365,162 (GRCm39) |
nonsense |
probably null |
|
|
R4734:Thap12
|
UTSW |
7 |
98,365,161 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5794:Thap12
|
UTSW |
7 |
98,365,600 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5994:Thap12
|
UTSW |
7 |
98,365,237 (GRCm39) |
nonsense |
probably null |
|
|
R6298:Thap12
|
UTSW |
7 |
98,352,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6515:Thap12
|
UTSW |
7 |
98,356,302 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6624:Thap12
|
UTSW |
7 |
98,364,793 (GRCm39) |
nonsense |
probably null |
|
|
R6965:Thap12
|
UTSW |
7 |
98,364,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Thap12
|
UTSW |
7 |
98,359,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8182:Thap12
|
UTSW |
7 |
98,365,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Thap12
|
UTSW |
7 |
98,356,283 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8897:Thap12
|
UTSW |
7 |
98,364,534 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9099:Thap12
|
UTSW |
7 |
98,364,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Thap12
|
UTSW |
7 |
98,356,280 (GRCm39) |
nonsense |
probably null |
|
|
R9339:Thap12
|
UTSW |
7 |
98,364,323 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9467:Thap12
|
UTSW |
7 |
98,359,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9644:Thap12
|
UTSW |
7 |
98,364,495 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9789:Thap12
|
UTSW |
7 |
98,352,592 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCAGAATAGTGAAGAACGGGC -3'
(R):5'- AAATTTGTGGCTTCCTCAAACC -3'
Sequencing Primer
(F):5'- GAAATTTGTCATTCCCAGTGGACAGG -3'
(R):5'- TTTGTGGCTTCCTCAAACCAAAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation