Incidental Mutation 'IGL01619:Trip12'
ID |
92484 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trip12
|
Ensembl Gene |
ENSMUSG00000026219 |
Gene Name |
thyroid hormone receptor interactor 12 |
Synonyms |
6720416K24Rik, 1110036I07Rik, Gtl6 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01619
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
84721189-84840516 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84814910 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 4
(R4L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027421]
[ENSMUST00000185909]
[ENSMUST00000186465]
[ENSMUST00000186648]
[ENSMUST00000186894]
[ENSMUST00000187818]
[ENSMUST00000189496]
[ENSMUST00000190067]
|
AlphaFold |
G5E870 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027421
AA Change: R4L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027421 Gene: ENSMUSG00000026219 AA Change: R4L
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: ENSMUST00000185909
AA Change: R4L
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000139986 Gene: ENSMUSG00000026219 AA Change: R4L
Domain | Start | End | E-Value | Type |
low complexity region
|
195 |
214 |
N/A |
INTRINSIC |
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186465
AA Change: R4L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140224 Gene: ENSMUSG00000026219 AA Change: R4L
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 damaging
Transcript: ENSMUST00000186648
AA Change: R4L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139563 Gene: ENSMUSG00000026219 AA Change: R4L
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 damaging
Transcript: ENSMUST00000186894
AA Change: R4L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140267 Gene: ENSMUSG00000026219 AA Change: R4L
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 |
3e-20 |
SMART |
PDB:1WA5|B
|
447 |
641 |
7e-6 |
PDB |
Blast:ARM
|
476 |
516 |
6e-6 |
BLAST |
WWE
|
764 |
839 |
6.9e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187818
AA Change: R4L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000140917 Gene: ENSMUSG00000026219 AA Change: R4L
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189496
AA Change: R4L
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139682 Gene: ENSMUSG00000026219 AA Change: R4L
Domain | Start | End | E-Value | Type |
low complexity region
|
195 |
214 |
N/A |
INTRINSIC |
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190067
AA Change: R4L
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140817 Gene: ENSMUSG00000026219 AA Change: R4L
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd46 |
T |
C |
15: 36,485,967 |
T47A |
possibly damaging |
Het |
Asxl3 |
T |
G |
18: 22,523,328 |
V1465G |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,837,404 |
H1995R |
probably benign |
Het |
Celsr3 |
A |
T |
9: 108,834,557 |
D1657V |
probably damaging |
Het |
Cntn6 |
G |
A |
6: 104,728,374 |
|
probably benign |
Het |
Def6 |
C |
T |
17: 28,207,864 |
L8F |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,831,615 |
K1940* |
probably null |
Het |
Dock10 |
A |
G |
1: 80,634,298 |
|
probably benign |
Het |
Fam166b |
G |
A |
4: 43,427,814 |
T170I |
possibly damaging |
Het |
Fam72a |
A |
G |
1: 131,533,912 |
I112V |
probably benign |
Het |
Fgl1 |
A |
T |
8: 41,196,971 |
W258R |
probably damaging |
Het |
Ints6l |
G |
T |
X: 56,496,744 |
|
probably benign |
Het |
Lifr |
A |
T |
15: 7,191,162 |
N1091I |
probably damaging |
Het |
Mga |
T |
C |
2: 119,931,828 |
I1100T |
possibly damaging |
Het |
Mrpl40 |
T |
A |
16: 18,872,544 |
M139L |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,044,476 |
|
probably benign |
Het |
Olfr164 |
T |
A |
16: 19,286,159 |
T195S |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,322,939 |
F791L |
probably damaging |
Het |
Prss29 |
T |
C |
17: 25,321,139 |
|
probably null |
Het |
Ranbp2 |
A |
G |
10: 58,464,078 |
|
probably null |
Het |
Serpinb9e |
A |
G |
13: 33,255,125 |
K178R |
probably damaging |
Het |
Shtn1 |
A |
G |
19: 59,028,169 |
S233P |
probably damaging |
Het |
Smpd1 |
G |
A |
7: 105,555,342 |
V143M |
possibly damaging |
Het |
Terb1 |
G |
A |
8: 104,473,014 |
H433Y |
probably benign |
Het |
Traf6 |
C |
T |
2: 101,690,098 |
Q164* |
probably null |
Het |
Ttn |
G |
A |
2: 76,863,535 |
P208S |
possibly damaging |
Het |
Ube2c |
T |
C |
2: 164,771,312 |
I50T |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,161,694 |
D1174G |
probably damaging |
Het |
Vmn2r121 |
T |
G |
X: 124,132,300 |
M387L |
probably benign |
Het |
Vmn2r18 |
T |
A |
5: 151,586,764 |
N48I |
probably benign |
Het |
Zc3h15 |
T |
C |
2: 83,660,173 |
L217P |
probably damaging |
Het |
Zyg11a |
T |
A |
4: 108,205,217 |
E129V |
probably damaging |
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 |
|
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 |
R3040:Trip12
|
UTSW |
1 |
84742245 |
missense |
probably benign |
0.13 |
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 |
|
Posted On |
2013-12-09 |