Incidental Mutation 'R5794:Thap12'
ID |
447121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thap12
|
Ensembl Gene |
ENSMUSG00000030753 |
Gene Name |
THAP domain containing 12 |
Synonyms |
Prkrir, Dap4, 2900052B10Rik |
MMRRC Submission |
043385-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R5794 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
98703103-98718062 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98716393 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 589
(D589E)
|
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: D589E
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000033009 Gene: ENSMUSG00000030753 AA Change: D589E
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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aftph |
T |
C |
11: 20,726,955 (GRCm38) |
|
probably null |
Het |
Ank2 |
T |
C |
3: 126,930,020 (GRCm38) |
N923S |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,894,524 (GRCm38) |
T76S |
probably benign |
Het |
Carmil1 |
G |
T |
13: 24,092,550 (GRCm38) |
N204K |
probably damaging |
Het |
Cep126 |
T |
G |
9: 8,103,439 (GRCm38) |
N190T |
possibly damaging |
Het |
Clasrp |
A |
T |
7: 19,591,109 (GRCm38) |
D198E |
probably damaging |
Het |
Cma1 |
T |
C |
14: 55,944,520 (GRCm38) |
T18A |
probably benign |
Het |
Ece1 |
A |
G |
4: 137,956,533 (GRCm38) |
I565M |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,806,512 (GRCm38) |
F1135L |
probably damaging |
Het |
Fbxw20 |
T |
C |
9: 109,223,290 (GRCm38) |
N325S |
probably damaging |
Het |
Fbxw20 |
A |
T |
9: 109,233,600 (GRCm38) |
C53S |
possibly damaging |
Het |
Gnb2 |
T |
C |
5: 137,528,699 (GRCm38) |
D203G |
probably benign |
Het |
Gprc5c |
G |
T |
11: 114,864,267 (GRCm38) |
V257L |
possibly damaging |
Het |
Hoxd9 |
T |
A |
2: 74,699,273 (GRCm38) |
F291Y |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,709,445 (GRCm38) |
S1004G |
probably benign |
Het |
Irgm1 |
T |
C |
11: 48,866,237 (GRCm38) |
Y249C |
probably damaging |
Het |
Kcnh3 |
A |
C |
15: 99,232,974 (GRCm38) |
I491L |
probably benign |
Het |
Kctd10 |
G |
A |
5: 114,367,337 (GRCm38) |
R199W |
probably damaging |
Het |
Klk1b4 |
A |
T |
7: 44,209,645 (GRCm38) |
N29I |
probably damaging |
Het |
Klrc1 |
C |
T |
6: 129,675,354 (GRCm38) |
R188Q |
probably damaging |
Het |
Krt32 |
C |
A |
11: 100,084,986 (GRCm38) |
C275F |
probably damaging |
Het |
Krt73 |
T |
A |
15: 101,794,829 (GRCm38) |
T449S |
probably benign |
Het |
Napepld |
T |
A |
5: 21,683,431 (GRCm38) |
S7C |
possibly damaging |
Het |
Nfia |
G |
T |
4: 97,783,601 (GRCm38) |
V183L |
possibly damaging |
Het |
Or5g27 |
T |
C |
2: 85,579,341 (GRCm38) |
V34A |
probably benign |
Het |
Or6c3 |
A |
C |
10: 129,473,426 (GRCm38) |
I245L |
possibly damaging |
Het |
Psma3 |
A |
G |
12: 70,990,497 (GRCm38) |
T111A |
probably benign |
Het |
Psmd11 |
T |
A |
11: 80,471,492 (GRCm38) |
D125E |
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,502,902 (GRCm38) |
D523E |
probably benign |
Het |
Rttn |
G |
T |
18: 88,995,569 (GRCm38) |
R454L |
probably benign |
Het |
Serpine2 |
T |
C |
1: 79,821,439 (GRCm38) |
N33D |
probably benign |
Het |
Six4 |
A |
T |
12: 73,112,350 (GRCm38) |
S271T |
possibly damaging |
Het |
Smoc2 |
T |
A |
17: 14,369,048 (GRCm38) |
C260S |
possibly damaging |
Het |
Snai2 |
A |
T |
16: 14,706,726 (GRCm38) |
Y32F |
probably benign |
Het |
Tapt1 |
C |
T |
5: 44,177,134 (GRCm38) |
G505D |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,550 (GRCm38) |
T30K |
possibly damaging |
Het |
Vmn2r116 |
T |
C |
17: 23,385,968 (GRCm38) |
I85T |
probably damaging |
Het |
Zfp592 |
G |
T |
7: 81,025,033 (GRCm38) |
V582L |
probably benign |
Het |
Zfp827 |
T |
C |
8: 79,070,442 (GRCm38) |
W386R |
probably damaging |
Het |
|
Other mutations in Thap12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00556:Thap12
|
APN |
7 |
98,716,137 (GRCm38) |
missense |
possibly damaging |
0.82 |
IGL01145:Thap12
|
APN |
7 |
98,712,903 (GRCm38) |
makesense |
probably null |
|
IGL01973:Thap12
|
APN |
7 |
98,716,499 (GRCm38) |
missense |
possibly damaging |
0.58 |
IGL02404:Thap12
|
APN |
7 |
98,710,133 (GRCm38) |
missense |
probably damaging |
1.00 |
H8562:Thap12
|
UTSW |
7 |
98,715,107 (GRCm38) |
missense |
probably damaging |
0.98 |
PIT4453001:Thap12
|
UTSW |
7 |
98,715,038 (GRCm38) |
missense |
probably benign |
0.00 |
R0090:Thap12
|
UTSW |
7 |
98,715,893 (GRCm38) |
missense |
probably damaging |
1.00 |
R0254:Thap12
|
UTSW |
7 |
98,715,281 (GRCm38) |
missense |
probably benign |
0.03 |
R1344:Thap12
|
UTSW |
7 |
98,716,830 (GRCm38) |
missense |
probably damaging |
0.97 |
R1384:Thap12
|
UTSW |
7 |
98,703,438 (GRCm38) |
missense |
probably damaging |
0.98 |
R1418:Thap12
|
UTSW |
7 |
98,716,830 (GRCm38) |
missense |
probably damaging |
0.97 |
R1448:Thap12
|
UTSW |
7 |
98,716,023 (GRCm38) |
missense |
probably benign |
0.01 |
R1493:Thap12
|
UTSW |
7 |
98,715,438 (GRCm38) |
missense |
probably benign |
0.30 |
R1906:Thap12
|
UTSW |
7 |
98,716,740 (GRCm38) |
missense |
probably damaging |
1.00 |
R1932:Thap12
|
UTSW |
7 |
98,716,838 (GRCm38) |
missense |
possibly damaging |
0.77 |
R1992:Thap12
|
UTSW |
7 |
98,716,365 (GRCm38) |
missense |
possibly damaging |
0.68 |
R2044:Thap12
|
UTSW |
7 |
98,716,620 (GRCm38) |
missense |
probably damaging |
1.00 |
R2092:Thap12
|
UTSW |
7 |
98,716,449 (GRCm38) |
missense |
possibly damaging |
0.70 |
R2160:Thap12
|
UTSW |
7 |
98,710,126 (GRCm38) |
missense |
probably damaging |
0.97 |
R3850:Thap12
|
UTSW |
7 |
98,716,663 (GRCm38) |
missense |
probably damaging |
1.00 |
R4086:Thap12
|
UTSW |
7 |
98,716,494 (GRCm38) |
missense |
possibly damaging |
0.94 |
R4162:Thap12
|
UTSW |
7 |
98,710,078 (GRCm38) |
intron |
probably benign |
|
R4554:Thap12
|
UTSW |
7 |
98,715,845 (GRCm38) |
missense |
probably benign |
0.00 |
R4555:Thap12
|
UTSW |
7 |
98,715,845 (GRCm38) |
missense |
probably benign |
0.00 |
R4556:Thap12
|
UTSW |
7 |
98,715,845 (GRCm38) |
missense |
probably benign |
0.00 |
R4557:Thap12
|
UTSW |
7 |
98,715,845 (GRCm38) |
missense |
probably benign |
0.00 |
R4659:Thap12
|
UTSW |
7 |
98,710,091 (GRCm38) |
intron |
probably benign |
|
R4734:Thap12
|
UTSW |
7 |
98,715,955 (GRCm38) |
nonsense |
probably null |
|
R4734:Thap12
|
UTSW |
7 |
98,715,954 (GRCm38) |
missense |
probably damaging |
0.98 |
R5994:Thap12
|
UTSW |
7 |
98,716,030 (GRCm38) |
nonsense |
probably null |
|
R6298:Thap12
|
UTSW |
7 |
98,703,405 (GRCm38) |
missense |
probably damaging |
1.00 |
R6515:Thap12
|
UTSW |
7 |
98,707,095 (GRCm38) |
missense |
probably damaging |
0.97 |
R6624:Thap12
|
UTSW |
7 |
98,715,586 (GRCm38) |
nonsense |
probably null |
|
R6625:Thap12
|
UTSW |
7 |
98,716,070 (GRCm38) |
missense |
probably benign |
0.00 |
R6965:Thap12
|
UTSW |
7 |
98,715,462 (GRCm38) |
missense |
probably damaging |
1.00 |
R7560:Thap12
|
UTSW |
7 |
98,710,231 (GRCm38) |
missense |
probably damaging |
0.99 |
R8182:Thap12
|
UTSW |
7 |
98,716,377 (GRCm38) |
missense |
probably damaging |
1.00 |
R8713:Thap12
|
UTSW |
7 |
98,707,076 (GRCm38) |
missense |
probably benign |
0.30 |
R8897:Thap12
|
UTSW |
7 |
98,715,327 (GRCm38) |
missense |
probably benign |
0.38 |
R9099:Thap12
|
UTSW |
7 |
98,715,393 (GRCm38) |
missense |
probably damaging |
1.00 |
R9260:Thap12
|
UTSW |
7 |
98,707,073 (GRCm38) |
nonsense |
probably null |
|
R9339:Thap12
|
UTSW |
7 |
98,715,116 (GRCm38) |
missense |
possibly damaging |
0.95 |
R9467:Thap12
|
UTSW |
7 |
98,710,141 (GRCm38) |
missense |
probably damaging |
0.99 |
R9644:Thap12
|
UTSW |
7 |
98,715,288 (GRCm38) |
missense |
probably damaging |
0.97 |
R9789:Thap12
|
UTSW |
7 |
98,703,385 (GRCm38) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTTTTGGTTTGAGGAAGCCAC -3'
(R):5'- AGGGCTTCATAAATGGTGGAC -3'
Sequencing Primer
(F):5'- TGGTTTGAGGAAGCCACAAATTTAGC -3'
(R):5'- GACGGGAGCTCGATATCTTTCC -3'
|
Posted On |
2016-12-15 |