Incidental Mutation 'R3040:Trip12'
| ID |
264909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trip12
|
| Ensembl Gene |
ENSMUSG00000026219 |
| Gene Name |
thyroid hormone receptor interactor 12 |
| Synonyms |
6720416K24Rik, 1110036I07Rik, Gtl6 |
| MMRRC Submission |
040556-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3040 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
84721189-84840516 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84742245 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 309
(V309A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027421]
[ENSMUST00000186465]
[ENSMUST00000186648]
[ENSMUST00000189670]
[ENSMUST00000189841]
|
| AlphaFold |
G5E870 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027421
AA Change: V1504A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: V1504A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
427 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
446 |
660 |
5e-20 |
SMART |
|
PDB:1WA5|B
|
447 |
641 |
1e-5 |
PDB |
|
Pfam:WWE
|
765 |
831 |
7.6e-22 |
PFAM |
|
low complexity region
|
983 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1073 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1362 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
1363 |
1417 |
8e-8 |
BLAST |
|
Blast:HECTc
|
1573 |
1629 |
2e-24 |
BLAST |
|
HECTc
|
1636 |
2025 |
1.29e-177 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186465
AA Change: V1504A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: V1504A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
427 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
446 |
660 |
5e-20 |
SMART |
|
PDB:1WA5|B
|
447 |
641 |
1e-5 |
PDB |
|
Pfam:WWE
|
761 |
831 |
2.2e-22 |
PFAM |
|
low complexity region
|
983 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1073 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1362 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
1363 |
1417 |
8e-8 |
BLAST |
|
Blast:HECTc
|
1573 |
1629 |
2e-24 |
BLAST |
|
HECTc
|
1636 |
2025 |
1.29e-177 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186648
AA Change: V1471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: V1471A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
440 |
654 |
5e-20 |
SMART |
|
PDB:1WA5|B
|
441 |
635 |
1e-5 |
PDB |
|
low complexity region
|
950 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1300 |
1311 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1329 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
1330 |
1384 |
7e-8 |
BLAST |
|
Blast:HECTc
|
1540 |
1596 |
2e-24 |
BLAST |
|
HECTc
|
1603 |
1992 |
6.2e-180 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189670
AA Change: V309A
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140789
Gene: ENSMUSG00000026219
AA Change: V309A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
138 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
168 |
222 |
5e-8 |
BLAST |
|
Blast:HECTc
|
378 |
434 |
1e-24 |
BLAST |
|
HECTc
|
441 |
830 |
6.2e-180 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189841
|
| SMART Domains |
Protein: ENSMUSP00000140879
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
63 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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 is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted allele exhibit complete embryonic lethality during organogenesis associated with embryonic growth retardation and abnormal placenta development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
A |
C |
9: 14,572,773 |
V498G |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 108,076,416 |
Y602H |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,916,406 |
P169S |
probably damaging |
Het |
| Ccar1 |
G |
T |
10: 62,756,494 |
H760N |
possibly damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,098,126 |
N319S |
probably benign |
Het |
| Dcdc2c |
G |
C |
12: 28,552,182 |
A41G |
probably damaging |
Het |
| Dzip3 |
G |
A |
16: 48,928,324 |
S1083F |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,604,919 |
R498Q |
probably damaging |
Het |
| Fam198b |
T |
A |
3: 79,887,125 |
I300N |
possibly damaging |
Het |
| Fbn2 |
A |
T |
18: 58,093,387 |
C772S |
probably damaging |
Het |
| Gdap2 |
T |
C |
3: 100,188,035 |
|
probably null |
Het |
| Gm10436 |
A |
T |
12: 88,178,348 |
S69R |
probably benign |
Het |
| Iqcj |
T |
C |
3: 68,055,342 |
S79P |
probably damaging |
Het |
| Isg20l2 |
T |
C |
3: 87,931,995 |
V171A |
probably benign |
Het |
| Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,406,788 |
|
probably null |
Het |
| Luc7l |
A |
T |
17: 26,277,619 |
|
probably benign |
Het |
| Mepe |
T |
G |
5: 104,338,122 |
L376R |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,334,337 |
R721Q |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,669,961 |
F23L |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,239,831 |
S22P |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,657,567 |
V470A |
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,735,518 |
Q323K |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,980,569 |
D1157G |
probably damaging |
Het |
| Styxl1 |
C |
T |
5: 135,757,033 |
A197T |
probably damaging |
Het |
| Tmem70 |
C |
T |
1: 16,667,765 |
T100M |
possibly damaging |
Het |
| Unc80 |
G |
A |
1: 66,639,305 |
V2082I |
probably benign |
Het |
| Vmn1r122 |
G |
C |
7: 21,133,446 |
P228R |
probably benign |
Het |
|
| Other mutations in Trip12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Trip12
|
APN |
1 |
84730541 |
missense |
probably damaging |
1.00 |
|
IGL00430:Trip12
|
APN |
1 |
84763861 |
missense |
probably damaging |
0.96 |
|
IGL00465:Trip12
|
APN |
1 |
84763861 |
missense |
probably damaging |
0.96 |
|
IGL00819:Trip12
|
APN |
1 |
84754272 |
missense |
probably damaging |
1.00 |
|
IGL00900:Trip12
|
APN |
1 |
84724764 |
missense |
possibly damaging |
0.56 |
|
IGL00990:Trip12
|
APN |
1 |
84751884 |
missense |
probably damaging |
0.99 |
|
IGL01087:Trip12
|
APN |
1 |
84757859 |
missense |
probably damaging |
0.99 |
|
IGL01400:Trip12
|
APN |
1 |
84751978 |
missense |
probably damaging |
0.99 |
|
IGL01521:Trip12
|
APN |
1 |
84766198 |
splice site |
probably benign |
|
|
IGL01619:Trip12
|
APN |
1 |
84814910 |
missense |
probably damaging |
0.99 |
|
IGL01796:Trip12
|
APN |
1 |
84728278 |
missense |
probably benign |
0.42 |
|
IGL01975:Trip12
|
APN |
1 |
84814813 |
splice site |
probably benign |
|
|
IGL02190:Trip12
|
APN |
1 |
84766070 |
missense |
probably damaging |
0.98 |
|
IGL02474:Trip12
|
APN |
1 |
84794133 |
missense |
probably benign |
|
|
IGL02517:Trip12
|
APN |
1 |
84743814 |
unclassified |
probably benign |
|
|
IGL02631:Trip12
|
APN |
1 |
84766008 |
missense |
possibly damaging |
0.91 |
|
IGL02991:Trip12
|
APN |
1 |
84738815 |
missense |
probably damaging |
1.00 |
|
IGL03161:Trip12
|
APN |
1 |
84761132 |
unclassified |
probably benign |
|
|
IGL03388:Trip12
|
APN |
1 |
84743186 |
missense |
probably damaging |
0.99 |
|
cardamom
|
UTSW |
1 |
84749276 |
missense |
probably damaging |
0.99 |
|
pungent
|
UTSW |
1 |
84793915 |
missense |
possibly damaging |
0.70 |
|
spices
|
UTSW |
1 |
84793875 |
missense |
probably benign |
0.10 |
|
sulfuric
|
UTSW |
1 |
84759050 |
missense |
probably benign |
0.19 |
|
Turmeric
|
UTSW |
1 |
84754343 |
missense |
probably benign |
0.07 |
|
LCD18:Trip12
|
UTSW |
1 |
84754482 |
unclassified |
probably benign |
|
|
R0090:Trip12
|
UTSW |
1 |
84732136 |
splice site |
probably benign |
|
|
R0111:Trip12
|
UTSW |
1 |
84759133 |
unclassified |
probably benign |
|
|
R0471:Trip12
|
UTSW |
1 |
84726207 |
missense |
probably damaging |
1.00 |
|
R0486:Trip12
|
UTSW |
1 |
84761084 |
nonsense |
probably null |
|
|
R0557:Trip12
|
UTSW |
1 |
84724747 |
missense |
probably damaging |
1.00 |
|
R0570:Trip12
|
UTSW |
1 |
84751548 |
missense |
probably damaging |
1.00 |
|
R0614:Trip12
|
UTSW |
1 |
84757761 |
missense |
probably damaging |
1.00 |
|
R0627:Trip12
|
UTSW |
1 |
84768597 |
missense |
probably damaging |
1.00 |
|
R0630:Trip12
|
UTSW |
1 |
84793915 |
missense |
possibly damaging |
0.70 |
|
R0657:Trip12
|
UTSW |
1 |
84759050 |
missense |
probably benign |
0.19 |
|
R0741:Trip12
|
UTSW |
1 |
84745181 |
missense |
probably benign |
0.09 |
|
R0862:Trip12
|
UTSW |
1 |
84744009 |
missense |
probably damaging |
0.99 |
|
R0864:Trip12
|
UTSW |
1 |
84744009 |
missense |
probably damaging |
0.99 |
|
R1124:Trip12
|
UTSW |
1 |
84737037 |
missense |
probably damaging |
1.00 |
|
R1252:Trip12
|
UTSW |
1 |
84776350 |
nonsense |
probably null |
|
|
R1455:Trip12
|
UTSW |
1 |
84759100 |
missense |
probably benign |
0.01 |
|
R1487:Trip12
|
UTSW |
1 |
84768631 |
missense |
probably damaging |
1.00 |
|
R1702:Trip12
|
UTSW |
1 |
84745063 |
missense |
probably damaging |
1.00 |
|
R1781:Trip12
|
UTSW |
1 |
84730621 |
missense |
probably benign |
0.01 |
|
R1847:Trip12
|
UTSW |
1 |
84749269 |
missense |
probably damaging |
1.00 |
|
R1854:Trip12
|
UTSW |
1 |
84728145 |
missense |
probably damaging |
1.00 |
|
R1866:Trip12
|
UTSW |
1 |
84745060 |
missense |
probably damaging |
1.00 |
|
R1926:Trip12
|
UTSW |
1 |
84749291 |
missense |
probably damaging |
0.98 |
|
R1935:Trip12
|
UTSW |
1 |
84794101 |
missense |
possibly damaging |
0.46 |
|
R1950:Trip12
|
UTSW |
1 |
84760801 |
missense |
probably damaging |
1.00 |
|
R1994:Trip12
|
UTSW |
1 |
84749172 |
missense |
probably damaging |
1.00 |
|
R2014:Trip12
|
UTSW |
1 |
84760866 |
nonsense |
probably null |
|
|
R2391:Trip12
|
UTSW |
1 |
84814790 |
frame shift |
probably null |
|
|
R2423:Trip12
|
UTSW |
1 |
84814790 |
frame shift |
probably null |
|
|
R2433:Trip12
|
UTSW |
1 |
84743823 |
missense |
possibly damaging |
0.84 |
|
R2905:Trip12
|
UTSW |
1 |
84754343 |
missense |
probably benign |
0.07 |
|
R3735:Trip12
|
UTSW |
1 |
84814790 |
frame shift |
probably null |
|
|
R3907:Trip12
|
UTSW |
1 |
84732106 |
missense |
possibly damaging |
0.53 |
|
R4394:Trip12
|
UTSW |
1 |
84725741 |
missense |
probably damaging |
1.00 |
|
R4540:Trip12
|
UTSW |
1 |
84749276 |
missense |
probably damaging |
0.99 |
|
R4859:Trip12
|
UTSW |
1 |
84793810 |
missense |
probably damaging |
0.99 |
|
R5240:Trip12
|
UTSW |
1 |
84794133 |
missense |
probably benign |
|
|
R5278:Trip12
|
UTSW |
1 |
84762147 |
missense |
probably damaging |
1.00 |
|
R5377:Trip12
|
UTSW |
1 |
84757431 |
missense |
probably damaging |
1.00 |
|
R5510:Trip12
|
UTSW |
1 |
84768680 |
missense |
probably damaging |
1.00 |
|
R5542:Trip12
|
UTSW |
1 |
84749344 |
missense |
probably damaging |
1.00 |
|
R5550:Trip12
|
UTSW |
1 |
84761099 |
missense |
probably damaging |
0.99 |
|
R5886:Trip12
|
UTSW |
1 |
84730458 |
intron |
probably benign |
|
|
R5893:Trip12
|
UTSW |
1 |
84759163 |
unclassified |
probably benign |
|
|
R5914:Trip12
|
UTSW |
1 |
84763458 |
missense |
probably damaging |
1.00 |
|
R5925:Trip12
|
UTSW |
1 |
84749253 |
nonsense |
probably null |
|
|
R5985:Trip12
|
UTSW |
1 |
84725771 |
missense |
probably damaging |
0.99 |
|
R6135:Trip12
|
UTSW |
1 |
84760838 |
missense |
probably benign |
0.00 |
|
R6158:Trip12
|
UTSW |
1 |
84761012 |
missense |
possibly damaging |
0.84 |
|
R6419:Trip12
|
UTSW |
1 |
84793870 |
missense |
probably damaging |
1.00 |
|
R6816:Trip12
|
UTSW |
1 |
84793714 |
missense |
probably damaging |
0.99 |
|
R7144:Trip12
|
UTSW |
1 |
84793714 |
missense |
probably damaging |
0.99 |
|
R7194:Trip12
|
UTSW |
1 |
84794222 |
missense |
probably benign |
0.07 |
|
R7355:Trip12
|
UTSW |
1 |
84814883 |
missense |
probably damaging |
1.00 |
|
R7361:Trip12
|
UTSW |
1 |
84750442 |
missense |
probably damaging |
0.98 |
|
R7588:Trip12
|
UTSW |
1 |
84760883 |
missense |
probably damaging |
0.99 |
|
R7705:Trip12
|
UTSW |
1 |
84777449 |
missense |
probably damaging |
1.00 |
|
R7818:Trip12
|
UTSW |
1 |
84760806 |
missense |
probably damaging |
1.00 |
|
R7918:Trip12
|
UTSW |
1 |
84745063 |
missense |
probably damaging |
0.98 |
|
R8127:Trip12
|
UTSW |
1 |
84738742 |
missense |
probably damaging |
0.99 |
|
R8221:Trip12
|
UTSW |
1 |
84766050 |
missense |
possibly damaging |
0.80 |
|
R8336:Trip12
|
UTSW |
1 |
84766041 |
missense |
probably benign |
0.37 |
|
R8373:Trip12
|
UTSW |
1 |
84795767 |
missense |
probably damaging |
0.98 |
|
R8719:Trip12
|
UTSW |
1 |
84745069 |
missense |
probably damaging |
0.98 |
|
R8771:Trip12
|
UTSW |
1 |
84743297 |
unclassified |
probably benign |
|
|
R8997:Trip12
|
UTSW |
1 |
84793875 |
missense |
probably benign |
0.10 |
|
R9146:Trip12
|
UTSW |
1 |
84794160 |
missense |
possibly damaging |
0.89 |
|
R9236:Trip12
|
UTSW |
1 |
84725829 |
missense |
probably damaging |
1.00 |
|
R9338:Trip12
|
UTSW |
1 |
84749298 |
missense |
probably damaging |
0.99 |
|
R9391:Trip12
|
UTSW |
1 |
84795752 |
missense |
probably benign |
0.00 |
|
R9516:Trip12
|
UTSW |
1 |
84757494 |
missense |
probably damaging |
1.00 |
|
X0023:Trip12
|
UTSW |
1 |
84760787 |
missense |
probably benign |
0.12 |
|
X0065:Trip12
|
UTSW |
1 |
84749163 |
missense |
probably benign |
0.21 |
|
Z1088:Trip12
|
UTSW |
1 |
84766168 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCCTGGACAATAAATGATAAAGGG -3'
(R):5'- ACATGGTGAATTCTCTGAGTCTG -3'
Sequencing Primer
(F):5'- GCATTTAATCATTGCAACAGAAACC -3'
(R):5'- CTCTGAGTCTGTATGCTATTGTTAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation