Incidental Mutation 'R8863:Thap1'
| ID |
675772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thap1
|
| Ensembl Gene |
ENSMUSG00000037214 |
| Gene Name |
THAP domain containing, apoptosis associated protein 1 |
| Synonyms |
4833431A01Rik |
| MMRRC Submission |
068679-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8863 (G1)
|
| Quality Score |
200.468 |
|
Status
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
G |
7: 127,836,123 (GRCm39) |
S157P |
possibly damaging |
Het |
| Aasdhppt |
C |
A |
9: 4,309,424 (GRCm39) |
A5S |
possibly damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,042 (GRCm39) |
L14P |
probably benign |
Het |
| Asb16 |
T |
C |
11: 102,168,058 (GRCm39) |
Y373H |
probably damaging |
Het |
| Axin1 |
T |
C |
17: 26,362,375 (GRCm39) |
S240P |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,987,088 (GRCm39) |
I505V |
possibly damaging |
Het |
| Camk2g |
A |
G |
14: 20,810,244 (GRCm39) |
L305P |
probably damaging |
Het |
| Ccm2 |
A |
G |
11: 6,535,211 (GRCm39) |
K156E |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,212,613 (GRCm39) |
Y1600* |
probably null |
Het |
| Cyp2c29 |
A |
G |
19: 39,261,810 (GRCm39) |
Q16R |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,774,666 (GRCm39) |
V221E |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,831,006 (GRCm39) |
D73G |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,591,262 (GRCm39) |
E125G |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igfbp3 |
A |
G |
11: 7,163,568 (GRCm39) |
C75R |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,875,898 (GRCm39) |
C478* |
probably null |
Het |
| L3mbtl4 |
T |
A |
17: 68,986,419 (GRCm39) |
C488S |
probably benign |
Het |
| Lysmd4 |
T |
C |
7: 66,873,493 (GRCm39) |
S43P |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,962,815 (GRCm39) |
K167E |
probably damaging |
Het |
| Mpl |
C |
A |
4: 118,314,602 (GRCm39) |
V23F |
|
Het |
| Muc4 |
A |
T |
16: 32,570,280 (GRCm39) |
I447F |
possibly damaging |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,711,864 (GRCm39) |
*526W |
probably null |
Het |
| Oas1a |
C |
T |
5: 121,043,943 (GRCm39) |
G63D |
probably damaging |
Het |
| Or2q1 |
A |
T |
6: 42,794,780 (GRCm39) |
Y125F |
probably damaging |
Het |
| Or5ac15 |
G |
T |
16: 58,939,712 (GRCm39) |
C240* |
probably null |
Het |
| Or8c17 |
T |
C |
9: 38,180,655 (GRCm39) |
V274A |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,631,383 (GRCm39) |
N409S |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,433,382 (GRCm39) |
Q3421* |
probably null |
Het |
| Plekha7 |
T |
A |
7: 115,753,875 (GRCm39) |
D664V |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,437,233 (GRCm39) |
M66T |
possibly damaging |
Het |
| Pon2 |
C |
T |
6: 5,265,480 (GRCm39) |
|
probably null |
Het |
| Pop4 |
G |
A |
7: 37,962,649 (GRCm39) |
A205V |
possibly damaging |
Het |
| Ppp6r3 |
T |
A |
19: 3,521,030 (GRCm39) |
E590D |
probably damaging |
Het |
| Ptpn6 |
T |
A |
6: 124,709,309 (GRCm39) |
I96F |
probably damaging |
Het |
| Rfk |
T |
A |
19: 17,372,590 (GRCm39) |
N37K |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,049,527 (GRCm39) |
Q7535K |
probably damaging |
Het |
| Tcf15 |
A |
T |
2: 151,986,023 (GRCm39) |
I160F |
probably damaging |
Het |
| Tmem160 |
T |
C |
7: 16,186,889 (GRCm39) |
M1T |
probably null |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Trnt1 |
T |
C |
6: 106,751,443 (GRCm39) |
F140S |
probably damaging |
Het |
| Ttf1 |
T |
C |
2: 28,969,492 (GRCm39) |
|
probably null |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,210 (GRCm39) |
I32F |
probably benign |
Het |
| Vwc2l |
T |
A |
1: 70,768,063 (GRCm39) |
N42K |
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 |
|
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 |
|
|
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 |
|
|
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 |
2021-07-15 |
Incidental Mutation