Incidental Mutation 'R6447:Thap1'
ID |
519231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thap1
|
Ensembl Gene |
ENSMUSG00000037214 |
Gene Name |
THAP domain containing, apoptosis associated protein 1 |
Synonyms |
4833431A01Rik |
MMRRC Submission |
044389-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6447 (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: 98.0%
- 20x: 93.9%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
A |
G |
3: 59,772,819 (GRCm39) |
I108V |
probably damaging |
Het |
Axl |
C |
A |
7: 25,469,708 (GRCm39) |
R476I |
probably damaging |
Het |
Casr |
A |
G |
16: 36,315,907 (GRCm39) |
L721P |
probably damaging |
Het |
Cntn6 |
A |
T |
6: 104,836,409 (GRCm39) |
H925L |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,960,527 (GRCm39) |
Y3296C |
probably damaging |
Het |
Dnah3 |
G |
A |
7: 119,522,277 (GRCm39) |
T3972M |
probably benign |
Het |
Ect2 |
A |
G |
3: 27,169,633 (GRCm39) |
F740S |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,494 (GRCm39) |
D126G |
unknown |
Het |
Exoc1 |
T |
A |
5: 76,691,364 (GRCm39) |
D222E |
probably damaging |
Het |
Hdac2 |
T |
C |
10: 36,869,812 (GRCm39) |
V258A |
possibly damaging |
Het |
Lrrk1 |
A |
G |
7: 65,952,476 (GRCm39) |
S487P |
probably benign |
Het |
Lyplal1 |
A |
T |
1: 185,821,639 (GRCm39) |
|
probably null |
Het |
Nwd2 |
T |
A |
5: 63,964,898 (GRCm39) |
I1494N |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,269 (GRCm39) |
E579G |
possibly damaging |
Het |
Samd8 |
T |
C |
14: 21,842,624 (GRCm39) |
|
probably null |
Het |
Sccpdh |
A |
G |
1: 179,506,453 (GRCm39) |
*131W |
probably null |
Het |
Smarcal1 |
C |
T |
1: 72,625,033 (GRCm39) |
S60L |
probably damaging |
Het |
Stau2 |
A |
T |
1: 16,460,049 (GRCm39) |
V264E |
possibly damaging |
Het |
T |
T |
C |
17: 8,660,463 (GRCm39) |
I217T |
possibly damaging |
Het |
Tbc1d1 |
C |
T |
5: 64,490,836 (GRCm39) |
L896F |
probably damaging |
Het |
Tmprss11f |
T |
C |
5: 86,676,086 (GRCm39) |
Y365C |
probably damaging |
Het |
Trdv4 |
A |
G |
14: 54,312,931 (GRCm39) |
T102A |
probably damaging |
Het |
Vmn1r205 |
G |
T |
13: 22,776,912 (GRCm39) |
N63K |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,572,272 (GRCm39) |
V963A |
probably benign |
Het |
Zswim2 |
T |
C |
2: 83,745,457 (GRCm39) |
|
probably null |
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 |
|
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'- TCAGAGTCTCCTTAGGATGGGG -3'
(R):5'- TCCCATGAACACATTAGCTTCAG -3'
Sequencing Primer
(F):5'- GTAAGGTAGTTCTTTAGTAAGCCGG -3'
(R):5'- ATCAGGAGTTCCGATTCAGC -3'
|
Posted On |
2018-05-24 |