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 |
Incidental Mutation