Incidental Mutation 'IGL02404:Thap12'
ID |
292006 |
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 # |
IGL02404
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
98352310-98367269 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98359340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 73
(Y73C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033009]
[ENSMUST00000126356]
[ENSMUST00000153566]
|
AlphaFold |
Q9CUX1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033009
AA Change: Y73C
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000033009 Gene: ENSMUSG00000030753 AA Change: Y73C
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 damaging
Transcript: ENSMUST00000153566
AA Change: Y73C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118736 Gene: ENSMUSG00000030753 AA Change: Y73C
Domain | Start | End | E-Value | Type |
THAP
|
3 |
92 |
8.38e-22 |
SMART |
DM3
|
21 |
91 |
1.49e-20 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
T |
C |
15: 98,494,819 (GRCm39) |
I745V |
probably benign |
Het |
Alppl2 |
A |
G |
1: 87,016,585 (GRCm39) |
V163A |
possibly damaging |
Het |
Atad2b |
T |
A |
12: 4,991,972 (GRCm39) |
S190R |
probably benign |
Het |
Cep68 |
A |
G |
11: 20,190,004 (GRCm39) |
V336A |
possibly damaging |
Het |
Clcn4 |
A |
C |
7: 7,290,857 (GRCm39) |
N587K |
probably benign |
Het |
Clic1 |
A |
G |
17: 35,271,852 (GRCm39) |
E82G |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 18,895,047 (GRCm39) |
S232G |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,216,768 (GRCm39) |
I662T |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Daw1 |
A |
G |
1: 83,174,952 (GRCm39) |
T151A |
probably benign |
Het |
Dysf |
A |
G |
6: 84,093,043 (GRCm39) |
E1052G |
probably damaging |
Het |
Gpr12 |
G |
A |
5: 146,520,733 (GRCm39) |
A63V |
probably damaging |
Het |
Inmt |
C |
T |
6: 55,148,095 (GRCm39) |
R178Q |
possibly damaging |
Het |
Metap1 |
A |
T |
3: 138,195,069 (GRCm39) |
C22S |
probably damaging |
Het |
Mst1r |
A |
T |
9: 107,790,266 (GRCm39) |
|
probably benign |
Het |
Or2ag17 |
A |
C |
7: 106,389,566 (GRCm39) |
I214S |
probably damaging |
Het |
Phkb |
T |
C |
8: 86,604,744 (GRCm39) |
S58P |
possibly damaging |
Het |
Pigs |
T |
A |
11: 78,230,857 (GRCm39) |
I368N |
probably benign |
Het |
Plekhm1 |
C |
T |
11: 103,285,824 (GRCm39) |
D204N |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,764,431 (GRCm39) |
|
probably benign |
Het |
Rps4l |
A |
G |
6: 148,256,277 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
A |
15: 100,937,611 (GRCm39) |
M1660K |
probably damaging |
Het |
Sec31b |
A |
C |
19: 44,523,227 (GRCm39) |
V23G |
probably damaging |
Het |
Sorcs3 |
T |
C |
19: 48,692,809 (GRCm39) |
|
probably benign |
Het |
Thsd7b |
G |
A |
1: 129,540,888 (GRCm39) |
C254Y |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,770,322 (GRCm39) |
N2623I |
possibly damaging |
Het |
Ulk1 |
A |
T |
5: 110,944,100 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
C |
4: 144,875,305 (GRCm39) |
Y1734C |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,113,171 (GRCm39) |
D143G |
possibly damaging |
Het |
Wac |
A |
G |
18: 7,917,570 (GRCm39) |
T347A |
probably damaging |
Het |
Wdr62 |
G |
T |
7: 29,967,298 (GRCm39) |
R319S |
probably damaging |
Het |
Zfp668 |
T |
C |
7: 127,465,532 (GRCm39) |
K551E |
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 |
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 |
2015-04-16 |