Incidental Mutation 'R4645:Thap1'
ID |
350171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thap1
|
Ensembl Gene |
ENSMUSG00000037214 |
Gene Name |
THAP domain containing, apoptosis associated protein 1 |
Synonyms |
4833431A01Rik |
MMRRC Submission |
041906-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4645 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
26648197-26654179 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26652597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 135
(T135A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036807]
[ENSMUST00000130231]
[ENSMUST00000131138]
|
AlphaFold |
Q8CHW1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036807
AA Change: T135A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042464 Gene: ENSMUSG00000037214 AA Change: T135A
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: T112A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000121153 Gene: ENSMUSG00000037214 AA Change: T112A
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
|
Meta Mutation Damage Score |
0.1145 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
98% (53/54) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,635,700 (GRCm39) |
E101G |
probably damaging |
Het |
Adgrf5 |
A |
G |
17: 43,748,416 (GRCm39) |
E29G |
probably damaging |
Het |
Agfg2 |
T |
A |
5: 137,682,854 (GRCm39) |
|
probably benign |
Het |
Ap4b1 |
A |
G |
3: 103,728,765 (GRCm39) |
S468G |
probably benign |
Het |
AY702103 |
G |
T |
17: 50,546,941 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc14 |
T |
C |
16: 34,542,110 (GRCm39) |
L536S |
probably damaging |
Het |
Ccr9 |
G |
T |
9: 123,608,658 (GRCm39) |
M101I |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,800,957 (GRCm39) |
V2496E |
probably benign |
Het |
Celsr2 |
C |
A |
3: 108,303,285 (GRCm39) |
G2486V |
probably damaging |
Het |
Cntnap3 |
A |
G |
13: 64,926,602 (GRCm39) |
|
probably null |
Het |
Erlin1 |
T |
C |
19: 44,057,759 (GRCm39) |
Y22C |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,334,189 (GRCm39) |
T1002A |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Glud1 |
T |
C |
14: 34,033,063 (GRCm39) |
V70A |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,349,842 (GRCm39) |
|
probably benign |
Het |
Immt |
T |
C |
6: 71,833,923 (GRCm39) |
L184P |
probably damaging |
Het |
Iqsec1 |
T |
G |
6: 90,644,995 (GRCm39) |
K983T |
probably damaging |
Het |
Klhl6 |
A |
T |
16: 19,765,897 (GRCm39) |
N568K |
probably damaging |
Het |
Lbhd1 |
T |
G |
19: 8,861,452 (GRCm39) |
|
probably benign |
Het |
Lrit2 |
C |
T |
14: 36,794,432 (GRCm39) |
R499C |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,461,213 (GRCm39) |
D748G |
probably damaging |
Het |
Lrriq4 |
A |
G |
3: 30,704,892 (GRCm39) |
K292E |
probably benign |
Het |
Ly96 |
G |
T |
1: 16,761,940 (GRCm39) |
E49* |
probably null |
Het |
Lztr1 |
C |
T |
16: 17,341,955 (GRCm39) |
|
probably benign |
Het |
Mmp12 |
A |
G |
9: 7,347,515 (GRCm39) |
M31V |
probably benign |
Het |
Mok |
A |
T |
12: 110,774,873 (GRCm39) |
|
probably benign |
Het |
Mpi |
T |
C |
9: 57,458,040 (GRCm39) |
H54R |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Or4c101 |
T |
C |
2: 88,390,722 (GRCm39) |
I292T |
probably damaging |
Het |
Pomt1 |
G |
T |
2: 32,132,888 (GRCm39) |
|
probably benign |
Het |
Ptpn20 |
G |
A |
14: 33,353,169 (GRCm39) |
V303I |
probably benign |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Shank2 |
A |
G |
7: 143,964,159 (GRCm39) |
K799R |
possibly damaging |
Het |
Sim1 |
A |
T |
10: 50,860,093 (GRCm39) |
T652S |
probably benign |
Het |
Slc8a2 |
C |
T |
7: 15,868,164 (GRCm39) |
T132I |
probably damaging |
Het |
Spaca6 |
A |
T |
17: 18,056,307 (GRCm39) |
|
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tenm4 |
G |
T |
7: 96,544,949 (GRCm39) |
G2322W |
probably damaging |
Het |
Traf3 |
T |
C |
12: 111,228,400 (GRCm39) |
V537A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,578,680 (GRCm39) |
D24071G |
probably damaging |
Het |
Tysnd1 |
G |
T |
10: 61,531,962 (GRCm39) |
V205L |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,079,081 (GRCm39) |
S1749P |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,162 (GRCm39) |
*846C |
probably null |
Het |
Vmn2r74 |
C |
T |
7: 85,606,317 (GRCm39) |
S343N |
probably benign |
Het |
Zfyve28 |
T |
G |
5: 34,379,787 (GRCm39) |
|
probably benign |
Het |
Zmym2 |
T |
C |
14: 57,165,764 (GRCm39) |
S696P |
probably damaging |
Het |
Zscan4e |
T |
C |
7: 11,041,002 (GRCm39) |
Y290C |
possibly damaging |
Het |
Zswim2 |
G |
T |
2: 83,745,891 (GRCm39) |
H516N |
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 |
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'- GTTACTAACCCCACGTGCTTG -3'
(R):5'- AGTCTTGTCCCACTAACACATC -3'
Sequencing Primer
(F):5'- GTCTGTTGCTGTCTAGAAGGAAGACC -3'
(R):5'- CATTTGGTAGGATCACGTAGCCC -3'
|
Posted On |
2015-10-08 |