Incidental Mutation 'R8713:Thap12'
ID |
669707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thap12
|
Ensembl Gene |
ENSMUSG00000030753 |
Gene Name |
THAP domain containing 12 |
Synonyms |
2900052B10Rik, Dap4, Prkrir |
MMRRC Submission |
068567-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R8713 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
98352310-98367269 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 98356283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 57
(L57F)
|
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: L57F
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000033009 Gene: ENSMUSG00000030753 AA Change: L57F
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 |
possibly damaging
Transcript: ENSMUST00000126356
AA Change: L57F
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118403 Gene: ENSMUSG00000030753 AA Change: L57F
Domain | Start | End | E-Value | Type |
THAP
|
3 |
78 |
3.21e-9 |
SMART |
DM3
|
21 |
78 |
1.89e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153566
AA Change: L57F
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118736 Gene: ENSMUSG00000030753 AA Change: L57F
Domain | Start | End | E-Value | Type |
THAP
|
3 |
92 |
8.38e-22 |
SMART |
DM3
|
21 |
91 |
1.49e-20 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
Adam18 |
T |
A |
8: 25,142,189 (GRCm39) |
M196L |
probably benign |
Het |
Ankrd10 |
A |
G |
8: 11,678,491 (GRCm39) |
S134P |
probably damaging |
Het |
Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
Arl6ip4 |
T |
C |
5: 124,254,825 (GRCm39) |
V4A |
unknown |
Het |
Cabp4 |
C |
T |
19: 4,186,159 (GRCm39) |
M247I |
probably benign |
Het |
Ccdc30 |
A |
T |
4: 119,261,404 (GRCm39) |
L11Q |
probably damaging |
Het |
Cdkl4 |
A |
G |
17: 80,841,292 (GRCm39) |
S288P |
possibly damaging |
Het |
Celsr3 |
A |
G |
9: 108,707,062 (GRCm39) |
I1182V |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,979,028 (GRCm39) |
D1788G |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,352,701 (GRCm39) |
D193G |
probably damaging |
Het |
Dym |
T |
G |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
Dync2h1 |
G |
A |
9: 7,141,008 (GRCm39) |
Q1340* |
probably null |
Het |
Elmo1 |
T |
C |
13: 20,458,791 (GRCm39) |
|
probably benign |
Het |
Fbxw15 |
A |
C |
9: 109,384,667 (GRCm39) |
F378V |
possibly damaging |
Het |
Fsip2 |
G |
A |
2: 82,811,453 (GRCm39) |
G2591R |
probably damaging |
Het |
Gps2 |
C |
A |
11: 69,806,180 (GRCm39) |
D148E |
probably benign |
Het |
Iars2 |
T |
C |
1: 185,023,615 (GRCm39) |
D772G |
possibly damaging |
Het |
Ifit1 |
T |
A |
19: 34,625,038 (GRCm39) |
L58Q |
probably benign |
Het |
Kctd4 |
A |
T |
14: 76,200,366 (GRCm39) |
Q112H |
probably benign |
Het |
Letm1 |
A |
G |
5: 33,919,849 (GRCm39) |
L230P |
probably damaging |
Het |
Lrch4 |
G |
T |
5: 137,638,125 (GRCm39) |
E136* |
probably null |
Het |
Macc1 |
T |
C |
12: 119,407,261 (GRCm39) |
|
probably benign |
Het |
Macrod1 |
T |
C |
19: 7,034,494 (GRCm39) |
L79P |
probably benign |
Het |
Map2 |
T |
A |
1: 66,453,781 (GRCm39) |
N890K |
probably damaging |
Het |
Mctp1 |
G |
A |
13: 76,789,922 (GRCm39) |
S270N |
probably benign |
Het |
Mrpl44 |
C |
T |
1: 79,755,708 (GRCm39) |
R105C |
probably damaging |
Het |
Mtg1 |
T |
A |
7: 139,717,688 (GRCm39) |
|
probably null |
Het |
Mtg1 |
T |
C |
7: 139,720,136 (GRCm39) |
F68L |
probably benign |
Het |
Nfil3 |
A |
G |
13: 53,122,047 (GRCm39) |
S286P |
possibly damaging |
Het |
Nutm1 |
A |
G |
2: 112,081,667 (GRCm39) |
V332A |
possibly damaging |
Het |
Obscn |
T |
A |
11: 59,026,792 (GRCm39) |
Q137L |
probably benign |
Het |
Pcnx2 |
T |
G |
8: 126,545,525 (GRCm39) |
E1162A |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,900,818 (GRCm39) |
D117G |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,513,345 (GRCm39) |
C215R |
probably benign |
Het |
Rrm1 |
T |
G |
7: 102,109,558 (GRCm39) |
Y461D |
probably damaging |
Het |
Sbk3 |
C |
T |
7: 4,972,991 (GRCm39) |
V60I |
possibly damaging |
Het |
Scube1 |
G |
T |
15: 83,494,471 (GRCm39) |
A852E |
possibly damaging |
Het |
Sec24d |
T |
A |
3: 123,137,541 (GRCm39) |
I561N |
probably damaging |
Het |
Slc16a4 |
T |
C |
3: 107,218,901 (GRCm39) |
*501Q |
probably null |
Het |
Slc6a19 |
C |
A |
13: 73,848,740 (GRCm39) |
V5L |
probably benign |
Het |
Spryd3 |
A |
G |
15: 102,041,920 (GRCm39) |
I34T |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,266,040 (GRCm39) |
L2191P |
probably damaging |
Het |
Tbrg1 |
A |
G |
9: 37,563,955 (GRCm39) |
C227R |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,935,910 (GRCm39) |
S1713P |
probably benign |
Het |
Top1 |
G |
A |
2: 160,559,360 (GRCm39) |
V628I |
probably damaging |
Het |
Trim67 |
A |
G |
8: 125,547,074 (GRCm39) |
M495V |
probably null |
Het |
Trio |
A |
C |
15: 27,744,037 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
A |
T |
6: 123,679,991 (GRCm39) |
Y71F |
|
Het |
Ywhah |
A |
G |
5: 33,184,535 (GRCm39) |
N246S |
probably benign |
Het |
Zcwpw1 |
T |
C |
5: 137,797,794 (GRCm39) |
I125T |
probably benign |
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 |
|
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 |
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'- CTGTGGACAGCAGTGTGTCT -3'
(R):5'- GGATGGGGCATCAGGAACT -3'
Sequencing Primer
(F):5'- CCTCCCAAGTACTGAGAGTATAGGTG -3'
(R):5'- CAGGAACTGAGGGTTTTAAAA -3'
|
Posted On |
2021-04-30 |