Incidental Mutation 'R1493:Thap12'
| ID |
165545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thap12
|
| Ensembl Gene |
ENSMUSG00000030753 |
| Gene Name |
THAP domain containing 12 |
| Synonyms |
2900052B10Rik, Dap4, Prkrir |
| MMRRC Submission |
039544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R1493 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98352310-98367269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98364645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 271
(H271R)
|
| 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: H271R
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: H271R
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,981,513 (GRCm39) |
D989V |
probably benign |
Het |
| Abcg8 |
T |
C |
17: 85,004,107 (GRCm39) |
S472P |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
| Adprm |
A |
G |
11: 66,932,702 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ankrd27 |
C |
T |
7: 35,307,790 (GRCm39) |
S343L |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,506,627 (GRCm39) |
S833P |
probably damaging |
Het |
| Arhgap42 |
T |
G |
9: 9,030,798 (GRCm39) |
E339D |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,174,271 (GRCm39) |
M799L |
probably benign |
Het |
| Cars2 |
A |
T |
8: 11,567,817 (GRCm39) |
|
probably null |
Het |
| Cd7 |
T |
C |
11: 120,928,967 (GRCm39) |
T95A |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,398,043 (GRCm39) |
T2200S |
probably benign |
Het |
| Cep44 |
A |
G |
8: 56,985,870 (GRCm39) |
S299P |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 21,956,866 (GRCm39) |
E1204V |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,828,050 (GRCm39) |
C17* |
probably null |
Het |
| Helz |
A |
G |
11: 107,504,751 (GRCm39) |
I413V |
probably benign |
Het |
| Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
| Hrh1 |
G |
A |
6: 114,457,838 (GRCm39) |
G373D |
probably damaging |
Het |
| Hs3st5 |
G |
A |
10: 36,708,870 (GRCm39) |
G135D |
probably damaging |
Het |
| Iqcf6 |
T |
C |
9: 106,504,641 (GRCm39) |
Y102H |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,758,202 (GRCm39) |
S1124R |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,904,859 (GRCm39) |
D387G |
probably damaging |
Het |
| Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
| Musk |
C |
T |
4: 58,354,003 (GRCm39) |
A352V |
probably benign |
Het |
| Myef2l |
A |
G |
3: 10,153,944 (GRCm39) |
K238E |
probably damaging |
Het |
| Nans |
G |
A |
4: 46,500,761 (GRCm39) |
E218K |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,581,841 (GRCm39) |
V479D |
probably damaging |
Het |
| Ninl |
T |
G |
2: 150,822,015 (GRCm39) |
D29A |
probably damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,041 (GRCm39) |
F426L |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,786,656 (GRCm39) |
C265* |
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
| Or51h1 |
T |
C |
7: 102,308,220 (GRCm39) |
L64P |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,709 (GRCm39) |
T77S |
probably damaging |
Het |
| Orai3 |
G |
A |
7: 127,373,077 (GRCm39) |
V193M |
possibly damaging |
Het |
| Prkag1 |
T |
C |
15: 98,711,551 (GRCm39) |
Y271C |
probably benign |
Het |
| Rfc4 |
T |
C |
16: 22,936,758 (GRCm39) |
I116V |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
| Rnmt |
G |
A |
18: 68,446,778 (GRCm39) |
D268N |
probably damaging |
Het |
| Rsph1 |
C |
T |
17: 31,484,873 (GRCm39) |
G139D |
probably damaging |
Het |
| Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
| Sgo2b |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
| Shmt2 |
A |
G |
10: 127,354,812 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,430,076 (GRCm39) |
T353A |
possibly damaging |
Het |
| Stk25 |
T |
C |
1: 93,553,322 (GRCm39) |
T260A |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,171,926 (GRCm39) |
S425G |
probably damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,247,405 (GRCm39) |
T256A |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,181,808 (GRCm39) |
I29N |
possibly damaging |
Het |
| Trpc2 |
A |
T |
7: 101,739,783 (GRCm39) |
N569I |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,546,350 (GRCm39) |
T1607A |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,613 (GRCm39) |
Y812C |
probably damaging |
Het |
| Zfp692 |
A |
T |
11: 58,204,866 (GRCm39) |
I409F |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,305 (GRCm39) |
C83Y |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,809 (GRCm39) |
S88P |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACAGCGGTCAACACATTATTC -3'
(R):5'- GCCAACCATGCATTTAAGGCACAG -3'
Sequencing Primer
(F):5'- CTGCTCTAAAACTCAGCAGAGG -3'
(R):5'- TTTGGAAGAAAATCCACTGGACAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation