Incidental Mutation 'R3850:Thap12'
| ID |
275874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thap12
|
| Ensembl Gene |
ENSMUSG00000030753 |
| Gene Name |
THAP domain containing 12 |
| Synonyms |
2900052B10Rik, Dap4, Prkrir |
| MMRRC Submission |
040898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R3850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98352310-98367269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 98365870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 679
(K679N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033009]
[ENSMUST00000126356]
[ENSMUST00000153566]
|
| AlphaFold |
Q9CUX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033009
AA Change: K679N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: K679N
| 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
|
| Meta Mutation Damage Score |
0.7559 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,061,481 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,190,906 (GRCm39) |
S815T |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,490,215 (GRCm39) |
L99Q |
possibly damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,718,377 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
C |
A |
14: 33,789,338 (GRCm39) |
H309Q |
probably benign |
Het |
| Ap1g2 |
T |
C |
14: 55,342,363 (GRCm39) |
M165V |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,344,473 (GRCm39) |
D22G |
possibly damaging |
Het |
| Cdh17 |
A |
G |
4: 11,785,201 (GRCm39) |
D331G |
probably damaging |
Het |
| Csmd1 |
C |
G |
8: 16,129,936 (GRCm39) |
V1729L |
probably benign |
Het |
| Cul5 |
T |
G |
9: 53,529,286 (GRCm39) |
M800L |
probably benign |
Het |
| Cwf19l1 |
T |
C |
19: 44,119,937 (GRCm39) |
Y68C |
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,355 (GRCm39) |
Q1658* |
probably null |
Het |
| Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
| Fan1 |
T |
C |
7: 64,022,119 (GRCm39) |
Y378C |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,061,410 (GRCm39) |
V4331D |
probably benign |
Het |
| Fbxl8 |
T |
C |
8: 105,993,781 (GRCm39) |
S46P |
probably benign |
Het |
| Golgb1 |
C |
A |
16: 36,719,095 (GRCm39) |
Q334K |
probably benign |
Het |
| Hoxc10 |
T |
C |
15: 102,875,879 (GRCm39) |
V196A |
probably benign |
Het |
| Hsf4 |
T |
C |
8: 105,997,469 (GRCm39) |
F101L |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,290,561 (GRCm39) |
I3340T |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,426 (GRCm39) |
R123H |
probably benign |
Het |
| Mov10l1 |
A |
T |
15: 88,889,898 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,183,729 (GRCm39) |
|
probably null |
Het |
| Muc5b |
G |
A |
7: 141,416,375 (GRCm39) |
C3107Y |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
| Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,559,471 (GRCm39) |
T214A |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,405,378 (GRCm39) |
R231G |
probably damaging |
Het |
| Or5aq1b |
T |
A |
2: 86,902,310 (GRCm39) |
H56L |
possibly damaging |
Het |
| Or7d10 |
A |
T |
9: 19,832,105 (GRCm39) |
Y200F |
probably damaging |
Het |
| Pcdhga10 |
C |
T |
18: 37,882,074 (GRCm39) |
P612S |
probably damaging |
Het |
| Picalm |
A |
G |
7: 89,840,912 (GRCm39) |
N456S |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,025,084 (GRCm39) |
F5S |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,270,004 (GRCm39) |
F563S |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,424,598 (GRCm39) |
E29G |
probably benign |
Het |
| Pm20d2 |
A |
G |
4: 33,174,414 (GRCm39) |
V403A |
probably damaging |
Het |
| Proz |
A |
G |
8: 13,123,533 (GRCm39) |
E268G |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,337 (GRCm39) |
V1252D |
probably benign |
Het |
| Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,986,903 (GRCm39) |
H41Q |
possibly damaging |
Het |
| Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,299,357 (GRCm39) |
Y910C |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,512,375 (GRCm39) |
L171F |
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,361,505 (GRCm39) |
E239G |
probably damaging |
Het |
| Smim33 |
G |
A |
18: 35,861,767 (GRCm39) |
V84I |
probably benign |
Het |
| Snx27 |
G |
T |
3: 94,427,542 (GRCm39) |
T311K |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,469,424 (GRCm39) |
L4459Q |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,095,396 (GRCm39) |
L5241P |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,859 (GRCm39) |
H275L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp229 |
C |
A |
17: 21,964,843 (GRCm39) |
H358N |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,915,225 (GRCm39) |
D1092G |
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 |
|
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 |
|
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'- GTGATGGGGCAGCTCAAATTTAAC -3'
(R):5'- AGAGTTTGATGTATGTGTCCACC -3'
Sequencing Primer
(F):5'- TGGGGCAGCTCAAATTTAACACATC -3'
(R):5'- TGATGTATGTGTCCACCATTAAATC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation