Incidental Mutation 'R5690:Thap4'
| ID |
443609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thap4
|
| Ensembl Gene |
ENSMUSG00000026279 |
| Gene Name |
THAP domain containing 4 |
| Synonyms |
2010320B01Rik |
| MMRRC Submission |
043323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R5690 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93633113-93682560 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 93644352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112905]
[ENSMUST00000112905]
[ENSMUST00000112905]
[ENSMUST00000112905]
[ENSMUST00000189728]
[ENSMUST00000189728]
[ENSMUST00000189728]
[ENSMUST00000189728]
[ENSMUST00000189728]
[ENSMUST00000189728]
[ENSMUST00000189728]
[ENSMUST00000189728]
[ENSMUST00000190116]
[ENSMUST00000190116]
[ENSMUST00000190116]
[ENSMUST00000190116]
|
| AlphaFold |
Q6P3Z3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112905
|
| SMART Domains |
Protein: ENSMUSP00000108526
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
91 |
4.74e-21 |
SMART |
|
DM3
|
24 |
90 |
2.99e-11 |
SMART |
|
internal_repeat_1
|
197 |
254 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
301 |
358 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF1794
|
413 |
566 |
1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112905
|
| SMART Domains |
Protein: ENSMUSP00000108526
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
91 |
4.74e-21 |
SMART |
|
DM3
|
24 |
90 |
2.99e-11 |
SMART |
|
internal_repeat_1
|
197 |
254 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
301 |
358 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF1794
|
413 |
566 |
1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112905
|
| SMART Domains |
Protein: ENSMUSP00000108526
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
91 |
4.74e-21 |
SMART |
|
DM3
|
24 |
90 |
2.99e-11 |
SMART |
|
internal_repeat_1
|
197 |
254 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
301 |
358 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF1794
|
413 |
566 |
1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112905
|
| SMART Domains |
Protein: ENSMUSP00000108526
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
91 |
4.74e-21 |
SMART |
|
DM3
|
24 |
90 |
2.99e-11 |
SMART |
|
internal_repeat_1
|
197 |
254 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
301 |
358 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF1794
|
413 |
566 |
1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187445
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189472
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189472
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189472
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189472
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189472
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189472
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189472
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189472
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189728
|
| SMART Domains |
Protein: ENSMUSP00000143943
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1794
|
9 |
162 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189728
|
| SMART Domains |
Protein: ENSMUSP00000143943
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1794
|
9 |
162 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189728
|
| SMART Domains |
Protein: ENSMUSP00000143943
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1794
|
9 |
162 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189728
|
| SMART Domains |
Protein: ENSMUSP00000143943
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1794
|
9 |
162 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189728
|
| SMART Domains |
Protein: ENSMUSP00000143943
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1794
|
9 |
162 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189728
|
| SMART Domains |
Protein: ENSMUSP00000143943
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1794
|
9 |
162 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189728
|
| SMART Domains |
Protein: ENSMUSP00000143943
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1794
|
9 |
162 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189728
|
| SMART Domains |
Protein: ENSMUSP00000143943
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1794
|
9 |
162 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190116
|
| SMART Domains |
Protein: ENSMUSP00000140761
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
91 |
4.74e-21 |
SMART |
|
DM3
|
24 |
90 |
2.99e-11 |
SMART |
|
internal_repeat_1
|
197 |
254 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
301 |
358 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF1794
|
412 |
567 |
1.3e-52 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190116
|
| SMART Domains |
Protein: ENSMUSP00000140761
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
91 |
4.74e-21 |
SMART |
|
DM3
|
24 |
90 |
2.99e-11 |
SMART |
|
internal_repeat_1
|
197 |
254 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
301 |
358 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF1794
|
412 |
567 |
1.3e-52 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190116
|
| SMART Domains |
Protein: ENSMUSP00000140761
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
91 |
4.74e-21 |
SMART |
|
DM3
|
24 |
90 |
2.99e-11 |
SMART |
|
internal_repeat_1
|
197 |
254 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
301 |
358 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF1794
|
412 |
567 |
1.3e-52 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190116
|
| SMART Domains |
Protein: ENSMUSP00000140761
Gene: ENSMUSG00000026279
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
91 |
4.74e-21 |
SMART |
|
DM3
|
24 |
90 |
2.99e-11 |
SMART |
|
internal_repeat_1
|
197 |
254 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
301 |
358 |
9.38e-12 |
PROSPERO |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
Pfam:DUF1794
|
412 |
567 |
1.3e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,759,144 (GRCm39) |
|
probably benign |
Het |
| Acadl |
T |
C |
1: 66,892,445 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,792,129 (GRCm39) |
|
probably null |
Het |
| Ap1s1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
5: 137,066,233 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp6v1e1 |
A |
T |
6: 120,785,317 (GRCm39) |
|
probably null |
Het |
| Axin1 |
A |
G |
17: 26,413,911 (GRCm39) |
Y792C |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,607,996 (GRCm39) |
N233S |
probably benign |
Het |
| Ccer2 |
C |
A |
7: 28,455,629 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,218,269 (GRCm39) |
S1481P |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,806,019 (GRCm39) |
T2277S |
probably benign |
Het |
| Ctsl |
T |
A |
13: 64,513,022 (GRCm39) |
N300I |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,382,370 (GRCm39) |
I1247V |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,655,108 (GRCm39) |
Q135L |
probably benign |
Het |
| Efcab14 |
G |
A |
4: 115,617,244 (GRCm39) |
V318M |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,810,647 (GRCm39) |
S910N |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frmd4b |
T |
C |
6: 97,330,164 (GRCm39) |
E133G |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,453 (GRCm39) |
F2514S |
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,576,272 (GRCm39) |
D261G |
possibly damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,318 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
C |
2: 40,640,906 (GRCm39) |
|
probably null |
Het |
| Mrpl45 |
C |
A |
11: 97,212,412 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,220,101 (GRCm39) |
E150G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,386,285 (GRCm39) |
V737D |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,341,296 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,732 (GRCm39) |
V277E |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,784,769 (GRCm39) |
S343T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pnpla1 |
A |
T |
17: 29,097,346 (GRCm39) |
I171F |
probably damaging |
Het |
| Rab5if |
G |
A |
2: 156,707,234 (GRCm39) |
V58I |
probably benign |
Het |
| Rdh8 |
A |
G |
9: 20,736,785 (GRCm39) |
N259S |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,229,735 (GRCm39) |
L927S |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,586,878 (GRCm39) |
M496T |
probably benign |
Het |
| Slc8b1 |
G |
A |
5: 120,651,270 (GRCm39) |
W10* |
probably null |
Het |
| Smarcc2 |
G |
A |
10: 128,320,276 (GRCm39) |
G887S |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,996,974 (GRCm39) |
S549P |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,085,802 (GRCm39) |
M1181V |
probably benign |
Het |
| Tbx15 |
T |
C |
3: 99,216,166 (GRCm39) |
S76P |
probably damaging |
Het |
| Tbx2 |
A |
T |
11: 85,727,879 (GRCm39) |
I271F |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,074,306 (GRCm39) |
Y333C |
probably damaging |
Het |
| Trcg1 |
C |
T |
9: 57,149,094 (GRCm39) |
P222L |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,148,045 (GRCm39) |
V326A |
probably benign |
Het |
| Unc80 |
A |
C |
1: 66,679,731 (GRCm39) |
I2101L |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,780 (GRCm39) |
L111S |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
| Xpo4 |
T |
C |
14: 57,828,446 (GRCm39) |
I805V |
probably benign |
Het |
|
| Other mutations in Thap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1839:Thap4
|
UTSW |
1 |
93,678,009 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2190:Thap4
|
UTSW |
1 |
93,678,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Thap4
|
UTSW |
1 |
93,652,934 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2235:Thap4
|
UTSW |
1 |
93,652,934 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4502:Thap4
|
UTSW |
1 |
93,678,709 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4673:Thap4
|
UTSW |
1 |
93,642,588 (GRCm39) |
intron |
probably benign |
|
|
R5011:Thap4
|
UTSW |
1 |
93,677,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5647:Thap4
|
UTSW |
1 |
93,642,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6375:Thap4
|
UTSW |
1 |
93,652,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6899:Thap4
|
UTSW |
1 |
93,678,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Thap4
|
UTSW |
1 |
93,678,223 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8910:Thap4
|
UTSW |
1 |
93,642,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9457:Thap4
|
UTSW |
1 |
93,678,028 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAGGACTATGTGGTCAGTC -3'
(R):5'- CAGTACATCTAGTGGGACAGCC -3'
Sequencing Primer
(F):5'- GGACCTATCCTTTGGGCATGTAC -3'
(R):5'- AGCCCTTTGAGGCTGCATATC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation