Incidental Mutation 'R5550:Trip12'
| ID |
435074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trip12
|
| Ensembl Gene |
ENSMUSG00000026219 |
| Gene Name |
thyroid hormone receptor interactor 12 |
| Synonyms |
6720416K24Rik, 1110036I07Rik, Gtl6 |
| MMRRC Submission |
043107-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5550 (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 84761099 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 709
(C709R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027421]
[ENSMUST00000185909]
[ENSMUST00000186465]
[ENSMUST00000186648]
[ENSMUST00000186894]
|
| AlphaFold |
G5E870 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027421
AA Change: C709R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: C709R
| 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 |
noncoding transcript
Transcript: ENSMUST00000185567
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185909
|
| SMART Domains |
Protein: ENSMUSP00000139986
Gene: ENSMUSG00000026219
| 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: C709R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: C709R
| 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: C703R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: C703R
| 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: C709R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140267
Gene: ENSMUSG00000026219
AA Change: C709R
| 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: ENSMUST00000190464
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 120,009,303 |
I1295M |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 130,014,934 |
|
probably null |
Het |
| Adig |
A |
T |
2: 158,507,960 |
|
probably benign |
Het |
| Atp5o |
C |
A |
16: 91,930,404 |
V15F |
probably damaging |
Het |
| Bdh2 |
A |
G |
3: 135,288,313 |
K52R |
probably benign |
Het |
| Bud23 |
A |
G |
5: 135,063,890 |
V27A |
probably benign |
Het |
| Ces2b |
A |
G |
8: 104,838,437 |
D551G |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,185,357 |
S446C |
probably damaging |
Het |
| Dio3 |
A |
T |
12: 110,280,126 |
T299S |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,316,708 |
I139F |
probably benign |
Het |
| Dpy30 |
A |
G |
17: 74,315,925 |
Y21H |
probably benign |
Het |
| Gbp4 |
C |
T |
5: 105,122,045 |
V306M |
probably damaging |
Het |
| Gcat |
G |
A |
15: 79,042,211 |
V94M |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,953,868 |
Y69C |
probably damaging |
Het |
| Hist3h2ba |
A |
G |
11: 58,949,320 |
*127W |
probably null |
Het |
| Kank4 |
A |
G |
4: 98,771,441 |
F800S |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,498,177 |
T2141S |
unknown |
Het |
| Map3k4 |
G |
A |
17: 12,243,558 |
R1143* |
probably null |
Het |
| Mdc1 |
A |
G |
17: 35,845,884 |
D61G |
possibly damaging |
Het |
| Nfkbid |
T |
A |
7: 30,426,001 |
L303Q |
probably damaging |
Het |
| Olfr697 |
T |
C |
7: 106,741,133 |
N267S |
probably benign |
Het |
| Olfr790 |
A |
G |
10: 129,501,783 |
N300D |
probably damaging |
Het |
| P2ry1 |
T |
C |
3: 61,003,811 |
C124R |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,624,784 |
C153Y |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,429,100 |
T2983S |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,646,138 |
P163S |
probably benign |
Het |
| Tdpoz4 |
A |
T |
3: 93,797,499 |
T368S |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,862,346 |
V78E |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,234,492 |
V828D |
possibly 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 |
|
|
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 |
|
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 |
|
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'- GGTAAACATGGCATAAGTTCACTG -3'
(R):5'- GGATGTTTATTCAGCATGGAAGTCC -3'
Sequencing Primer
(F):5'- AGTTCACTGAAAGTAAAACGTGC -3'
(R):5'- CTCTGGTGAATGATTGCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation