Incidental Mutation 'R6503:Thap1'
| ID |
519849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thap1
|
| Ensembl Gene |
ENSMUSG00000037214 |
| Gene Name |
THAP domain containing, apoptosis associated protein 1 |
| Synonyms |
4833431A01Rik |
| MMRRC Submission |
044635-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6503 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26648197-26654179 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CAGCATCTGCTCGGAGCA to CAGCA
at 26650884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036807]
[ENSMUST00000130231]
[ENSMUST00000131138]
|
| AlphaFold |
Q8CHW1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036807
|
| SMART Domains |
Protein: ENSMUSP00000042464
Gene: ENSMUSG00000037214
| 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 null
Transcript: ENSMUST00000130231
|
| SMART Domains |
Protein: ENSMUSP00000121153
Gene: ENSMUSG00000037214
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
T |
7: 78,747,580 (GRCm39) |
A784S |
probably benign |
Het |
| Anxa4 |
A |
G |
6: 86,721,649 (GRCm39) |
S204P |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,883,054 (GRCm39) |
N625D |
possibly damaging |
Het |
| Cage1 |
G |
A |
13: 38,209,425 (GRCm39) |
T78I |
possibly damaging |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,285 (GRCm39) |
C259S |
probably benign |
Het |
| Enah |
C |
T |
1: 181,746,076 (GRCm39) |
G402R |
probably damaging |
Het |
| Epha6 |
T |
A |
16: 60,025,984 (GRCm39) |
H486L |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,036,406 (GRCm39) |
M3353V |
probably benign |
Het |
| Gulp1 |
A |
T |
1: 44,812,540 (GRCm39) |
Q170L |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,943,549 (GRCm39) |
G216S |
probably damaging |
Het |
| Krt8 |
T |
A |
15: 101,906,369 (GRCm39) |
Y380F |
possibly damaging |
Het |
| Mettl18 |
T |
C |
1: 163,824,687 (GRCm39) |
V336A |
possibly damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,531,715 (GRCm39) |
D146V |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,926,042 (GRCm39) |
D342G |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,447,922 (GRCm39) |
S205P |
possibly damaging |
Het |
| Parp10 |
G |
A |
15: 76,126,684 (GRCm39) |
R195C |
probably damaging |
Het |
| Pcdha1 |
G |
A |
18: 37,064,724 (GRCm39) |
V463M |
probably damaging |
Het |
| Prb1c |
C |
A |
6: 132,338,655 (GRCm39) |
G188* |
probably null |
Het |
| Rb1 |
T |
C |
14: 73,443,320 (GRCm39) |
I778V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,448,810 (GRCm39) |
S3619T |
probably benign |
Het |
| St18 |
A |
T |
1: 6,865,621 (GRCm39) |
D33V |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,302,682 (GRCm39) |
S1014P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,163,658 (GRCm39) |
D40G |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,848,251 (GRCm39) |
S300P |
probably benign |
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 |
|
R0927:Thap1
|
UTSW |
8 |
26,652,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- TCAGAGTCTCCTTAGGATGGGG -3'
(R):5'- CCCATGAACACATTAGCTTCAG -3'
Sequencing Primer
(F):5'- GTAAGGTAGTTCTTTAGTAAGCCGG -3'
(R):5'- ATCAGGAGTTCCGATTCAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation