Incidental Mutation 'R0927:Thap1'
| ID |
80509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thap1
|
| Ensembl Gene |
ENSMUSG00000037214 |
| Gene Name |
THAP domain containing, apoptosis associated protein 1 |
| Synonyms |
4833431A01Rik |
| MMRRC Submission |
039074-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0927 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26648197-26654179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26652733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 157
(V157A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036807]
[ENSMUST00000130231]
[ENSMUST00000131138]
|
| AlphaFold |
Q8CHW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036807
AA Change: V180A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042464
Gene: ENSMUSG00000037214
AA Change: V180A
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
86 |
6.6e-20 |
SMART |
|
DM3
|
22 |
86 |
3.01e-16 |
SMART |
|
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130231
AA Change: V157A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121153
Gene: ENSMUSG00000037214
AA Change: V157A
| Domain | Start | End | E-Value | Type |
|---|
|
DM3
|
2 |
63 |
1.13e-11 |
SMART |
|
THAP
|
2 |
63 |
6.77e-8 |
SMART |
|
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
|
SCOP:d1lxa__
|
121 |
173 |
8e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131138
|
| SMART Domains |
Protein: ENSMUSP00000115452
Gene: ENSMUSG00000109850
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
|
SCOP:d1fbva4
|
85 |
135 |
1e-6 |
SMART |
|
Blast:RING
|
115 |
135 |
3e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209926
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO is embryonic lethal. Heterozygous KO affects motor control and the morphology of the cerebellum dentate nucleus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,607,317 (GRCm39) |
L363P |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,599,959 (GRCm39) |
H85L |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,621 (GRCm39) |
H341Q |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,160 (GRCm39) |
M688K |
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,754,133 (GRCm39) |
L322P |
probably damaging |
Het |
| Adcy5 |
T |
A |
16: 34,976,613 (GRCm39) |
S49T |
probably benign |
Het |
| Arfgap2 |
T |
C |
2: 91,104,150 (GRCm39) |
S374P |
probably benign |
Het |
| Arpp19 |
G |
A |
9: 74,944,967 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,941,773 (GRCm39) |
K1478E |
probably damaging |
Het |
| Cdc27 |
G |
T |
11: 104,396,467 (GRCm39) |
A812E |
possibly damaging |
Het |
| Chtf8 |
G |
A |
8: 107,612,150 (GRCm39) |
T263I |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,113,849 (GRCm39) |
N70D |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,349,553 (GRCm39) |
T289S |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,795,840 (GRCm39) |
N177S |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,465,313 (GRCm39) |
|
probably null |
Het |
| Enam |
T |
A |
5: 88,641,919 (GRCm39) |
N244K |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,770 (GRCm39) |
K874E |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,578,239 (GRCm39) |
E432G |
possibly damaging |
Het |
| Grin3b |
G |
A |
10: 79,807,062 (GRCm39) |
R110Q |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,845,748 (GRCm39) |
V423D |
possibly damaging |
Het |
| Ifit2 |
A |
T |
19: 34,550,984 (GRCm39) |
T175S |
probably benign |
Het |
| Kcnj8 |
T |
G |
6: 142,511,627 (GRCm39) |
I327L |
possibly damaging |
Het |
| Kcns2 |
A |
T |
15: 34,839,242 (GRCm39) |
I202F |
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,087,010 (GRCm39) |
R305G |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,154,576 (GRCm39) |
D362G |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,687,540 (GRCm39) |
I2815T |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,843 (GRCm39) |
M433I |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,462,040 (GRCm39) |
D312G |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,344,758 (GRCm39) |
I382N |
probably damaging |
Het |
| Nudt6 |
C |
T |
3: 37,459,502 (GRCm39) |
R161H |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,631,816 (GRCm39) |
W8R |
probably damaging |
Het |
| Or11g2 |
A |
C |
14: 50,856,044 (GRCm39) |
M122L |
possibly damaging |
Het |
| Or4m1 |
A |
T |
14: 50,558,186 (GRCm39) |
Y35* |
probably null |
Het |
| Or7e166 |
C |
T |
9: 19,624,945 (GRCm39) |
A274V |
probably benign |
Het |
| Pmf1 |
A |
T |
3: 88,303,369 (GRCm39) |
V64D |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,009,048 (GRCm39) |
V29D |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,380,790 (GRCm39) |
H411L |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,378 (GRCm39) |
D38E |
probably benign |
Het |
| Prex1 |
C |
T |
2: 166,428,457 (GRCm39) |
A925T |
probably benign |
Het |
| Pus3 |
A |
G |
9: 35,476,327 (GRCm39) |
Y72C |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,176 (GRCm39) |
S247P |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,305,396 (GRCm39) |
D542E |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,063,895 (GRCm39) |
D786G |
probably benign |
Het |
| Sirt6 |
A |
T |
10: 81,458,475 (GRCm39) |
D219E |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,072,411 (GRCm39) |
I67N |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,264,248 (GRCm39) |
F57S |
probably damaging |
Het |
| Spg11 |
T |
A |
2: 121,924,968 (GRCm39) |
T756S |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,071,591 (GRCm39) |
R1447L |
probably damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,907,387 (GRCm39) |
M340V |
probably damaging |
Het |
| Ubash3b |
G |
A |
9: 40,934,853 (GRCm39) |
Q354* |
probably null |
Het |
| Ubtd1 |
G |
A |
19: 42,020,460 (GRCm39) |
W68* |
probably null |
Het |
| Wdr64 |
G |
T |
1: 175,620,647 (GRCm39) |
R793L |
probably damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,327,432 (GRCm39) |
T106I |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,337 (GRCm39) |
N233S |
possibly damaging |
Het |
| Zcchc24 |
A |
T |
14: 25,757,585 (GRCm39) |
N99K |
possibly damaging |
Het |
|
| Other mutations in Thap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Thap1
|
APN |
8 |
26,652,759 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00990:Thap1
|
APN |
8 |
26,650,910 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02491:Thap1
|
APN |
8 |
26,650,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03097:Thap1
|
UTSW |
8 |
26,652,498 (GRCm39) |
missense |
probably benign |
|
|
IGL03098:Thap1
|
UTSW |
8 |
26,652,498 (GRCm39) |
missense |
probably benign |
|
|
R0755:Thap1
|
UTSW |
8 |
26,648,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Thap1
|
UTSW |
8 |
26,652,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Thap1
|
UTSW |
8 |
26,650,874 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4803:Thap1
|
UTSW |
8 |
26,650,882 (GRCm39) |
frame shift |
probably null |
|
|
R4978:Thap1
|
UTSW |
8 |
26,650,882 (GRCm39) |
frame shift |
probably null |
|
|
R6424:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R6447:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R6503:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R6995:Thap1
|
UTSW |
8 |
26,652,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7169:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R7923:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R8209:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R8419:Thap1
|
UTSW |
8 |
26,648,502 (GRCm39) |
nonsense |
probably null |
|
|
R8519:Thap1
|
UTSW |
8 |
26,650,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8732:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R8832:Thap1
|
UTSW |
8 |
26,648,261 (GRCm39) |
intron |
probably benign |
|
|
R8863:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9205:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9271:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9319:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9332:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9332:Thap1
|
UTSW |
8 |
26,650,882 (GRCm39) |
frame shift |
probably null |
|
|
R9380:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9414:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9430:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9441:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9460:Thap1
|
UTSW |
8 |
26,650,884 (GRCm39) |
frame shift |
probably null |
|
|
R9739:Thap1
|
UTSW |
8 |
26,650,990 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCCCAGGTTGATGCTGCTATTG -3'
(R):5'- TGAAAGGCTCTGTCCTATGCTCTCAC -3'
Sequencing Primer
(F):5'- CTGCTATTGGGCTGCTAATGC -3'
(R):5'- GTCCTATGCTCTCACTTAAACATCTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation