Incidental Mutation 'IGL00556:Thap12'
ID |
5202 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Thap12
|
Ensembl Gene |
ENSMUSG00000030753 |
Gene Name |
THAP domain containing 12 |
Synonyms |
2900052B10Rik, Dap4, Prkrir |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
IGL00556
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
98352310-98367269 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98365344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 504
(V504D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033009]
[ENSMUST00000126356]
[ENSMUST00000153566]
|
AlphaFold |
Q9CUX1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033009
AA Change: V504D
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000033009 Gene: ENSMUSG00000030753 AA Change: V504D
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,392,916 (GRCm39) |
I108V |
probably benign |
Het |
Atad2 |
A |
G |
15: 57,963,476 (GRCm39) |
I723T |
probably damaging |
Het |
Cct4 |
T |
A |
11: 22,947,656 (GRCm39) |
V233E |
possibly damaging |
Het |
Ces1a |
A |
G |
8: 93,771,687 (GRCm39) |
Y37H |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,563,338 (GRCm39) |
R863Q |
probably benign |
Het |
Dnaaf9 |
T |
C |
2: 130,626,377 (GRCm39) |
D225G |
probably benign |
Het |
Fam13b |
T |
C |
18: 34,630,488 (GRCm39) |
D90G |
probably damaging |
Het |
Fhdc1 |
A |
T |
3: 84,364,549 (GRCm39) |
D232E |
possibly damaging |
Het |
Gm6370 |
A |
G |
5: 146,430,723 (GRCm39) |
T303A |
probably benign |
Het |
Gsdmc2 |
A |
G |
15: 63,700,120 (GRCm39) |
|
probably benign |
Het |
Kif13b |
T |
A |
14: 64,982,337 (GRCm39) |
N516K |
probably damaging |
Het |
Med1 |
A |
G |
11: 98,046,510 (GRCm39) |
|
probably benign |
Het |
Med4 |
T |
C |
14: 73,754,707 (GRCm39) |
M190T |
probably damaging |
Het |
Myo15b |
T |
C |
11: 115,782,742 (GRCm39) |
V1534A |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,081,961 (GRCm39) |
R1722G |
probably benign |
Het |
Obp2b |
A |
T |
2: 25,628,593 (GRCm39) |
I116F |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,320,070 (GRCm39) |
|
probably null |
Het |
Siglecg |
A |
T |
7: 43,061,219 (GRCm39) |
I431F |
probably benign |
Het |
Tlr7 |
A |
C |
X: 166,091,471 (GRCm39) |
M5R |
possibly damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,985,165 (GRCm39) |
V1641A |
probably damaging |
Het |
Ugt2b1 |
T |
A |
5: 87,074,055 (GRCm39) |
L101F |
probably benign |
Het |
Xdh |
A |
T |
17: 74,191,430 (GRCm39) |
*1336R |
probably null |
Het |
|
Other mutations in Thap12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R6625:Thap12
|
UTSW |
7 |
98,365,277 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
|
Posted On |
2012-04-20 |